RECLUTAN PACIENTES PARA ENSAYOS CLÍNICOS DE VARIAS DISTROFIAS RETINA

A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies (ProgSTAR)
This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 by Foundation Fighting Blindness Clinical Research Institute
Sponsor:
Foundation Fighting Blindness Clinical Research Institute
Collaborators:
Foundation Fighting Blindness
Department of Defense
Information provided by (Responsible Party):
Foundation Fighting Blindness Clinical Research Institute
ClinicalTrials.gov Identifier:
NCT01977846
First received: October 31, 2013
Last updated: September 12, 2014
Last verified: September 2014
History of Changes
Full Text ViewTabular View No Study Results PostedDisclaimerHow to Read a Study Record
No Study Results Posted on ClinicalTrials.gov for this Study
About Study Results Reporting on ClinicalTrials.gov
Study Status: This study is currently recruiting participants.
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: December 2016 (Final data collection date for primary outcome measure)

 

Purpose
Stargardt disease is currently an incurable and untreatable macular dystrophy that causes severe visual loss in children and young adults, thereby causing enormous morbidity with economic, psychological, emotional, and social implications. There are no FDA approved therapeutic treatments for this disease. Therefore, the objective of this study is to collect natural history data from a large population of children and adults in order to evaluate possible efficacy measures for planned clinical trials.

Participants will be recruited from each Investigator’s own patient population as the study requires the availability of both multiyear retrospective data, as well as ongoing prospectively collected data. A concurrent ancillary study (SMART study) is also being conducted with a subset of the prospective study patients during their regular ProgSTAR study visits to expand the collection of retinal images to include microperimetry measurements gathered under scotopic (low light) conditions.
Condition
Stargardt Disease

Study Type: Observational
Study Design: Observational Model: Case-Only
Official Title: Natural History of Progression of Atrophy Secondary to Stargardt Disease: Retrospective, and Prospective Longitudinal Observational Study Incl. Ancillary SMART Study- Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease

Resource links provided by NLM:

Genetics Home Reference related topics: age-related macular degeneration Stargardt macular degeneration
Genetic and Rare Diseases Information Center resources: Stargardt Disease
U.S. FDA Resources

Further study details as provided by Foundation Fighting Blindness Clinical Research Institute:

Primary Outcome Measures:
To assess the yearly rate of progression of STGD using the growth of atrophic lesions as measured by fundus autofluorescence (FAF) imaging. [ Time Frame: 4-7 years ] [ Designated as safety issue: No ]
From 2 to 5 years of retrospective fundus autofluorescence imaging linked with 2 years of standardized prospective fundus autofluorescence imaging will be collected.
Secondary Outcome Measures:
To assess the yearly rate of progression of STGD using spectral-domain optical coherence tomography (sd-OCT) to measure the rates of retinal thinning and the loss of photoreceptors [ Time Frame: 4-7 years ] [ Designated as safety issue: No ]
From 2 to 5 years of retrospective spectral-domain optical coherence tomography imaging linked with 2 years of standardized prospective spectral-domain optical coherence tomography imaging will be collected

To assess the yearly rate of loss of retinal sensitivity as measured by microperimetry. [ Time Frame: 4 to 7 years ] [ Designated as safety issue: No ]
Up to 2 to 5 years of retrospective microperimetry imaging linked with 2 years of standardized prospective microperimetry imaging will be collected.

To assess the yearly rate of visual acuity changes as measured by best corrected visual acuity (BCVA) using the Early Treatment Diabetic Retinopathy Study (ETDRS) protocol [ Time Frame: 4-7 years ] [ Designated as safety issue: No ]
From 2 to 5 years of retrospective visual acuity measurements will be linked with 2 years of standardized prospective visual acuity measurements will be collected

To correlate the presence and progression of morphological abnormalities in FAF and sd-OCT images with visual function as measured by microperimetry and visual acuity. [ Time Frame: 4-7 years ] [ Designated as safety issue: No ]
From 2 to 5 years of retrospective spectral-domain optical coherence tomography and fundus autofluorescence imaging linked with 2 years of standardized prospective spectral-domain optical coherence tomography and fundus autofluorescence imaging will be analyzed for correlation

To perform exploratory analysis of factors associated with STGD progression, such as participant’s use of vitamin A supplementation, and mutations in the ABCA4 gene. [ Time Frame: 4-7 years ] [ Designated as safety issue: No ]
From 2 to 5 years of retrospectively collected information linked with 2 years of standardized prospectively collected information will be collected and assessed.

To assess the yearly rate of loss of retinal sensitivity as measured by scotopic microperimetry. [ Time Frame: 2 years ] [ Designated as safety issue: No ]
Up to 2 years of standardized prospective microperimetry imaging, gathered under scotopic conditions, will be collected in a subset of prospective patients (SMART Study).
Estimated Enrollment: 200
Study Start Date: August 2013
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: December 2016 (Final data collection date for primary outcome measure)
Eligibility

Ages Eligible for Study: 6 Years and older
Genders Eligible for Study: Both
Accepts Healthy Volunteers: No
Sampling Method: Non-Probability Sample
Study Population
The study population shall consist of up to 250 Stargardt disease patients (minimum of 150 patients) recruited at up to 14 clinical centers across the US and Europe. Must be at least 6 years old, able to cooperate in performing the examinations and be willing to attend regular 6 month follow-up visits for up to 24 months. Must present with atrophic lesions secondary to STGD and previously genotyped (at least 2 confirmed pathogenic mutations in the ABCA4 gene). If only 1 ABCA4 allele contains a pathogenic mutation, then the patient needs typical phenotype, i.e. at least one eye must have flecks at the level of the retinal pigment epithelium typical for STGD. Best-corrected visual acuity (BCVA) must be 20 ETDRS letters (20/400 Snellen equivalent) or better.

Criteria
Inclusion Criteria:

Provide a signed informed consent form and authorization allowing the disclosure and use of protected health information.
The designated primary study eye must have at least one well-demarcated area of atrophy as imaged by fundus autofluorescence with a minimum diameter of 300 microns and all lesions together must add to less than or equal to 12 mm2 (equivalent to no more than 5 disc areas in a least one eye) and a BCVA of 20 ETDRS letters (20/400 Snellen equivalent) or better.
Two (2) pathogenic mutations confirmed present, in the ABCA4 gene. If only one ABCA4 allele contains a pathogenic mutation, the patient shall have a typical Stargardt phenotype, namely at least one eye must have flecks at the level of the retinal pigment epithelium typical for STGD.
The primary study eye must have clear ocular media and adequate pupillary dilation to permit good quality FAF and sd-OCT imaging in the opinion of the investigator.
Be able to cooperate in performing the examinations.
Be willing to undergo ocular examinations once every 6 months for up to 24 months.
Be at least six years old.
Both eyes can be included if inclusion criteria are fulfilled for both eyes.
Exclusion Criteria:

Ocular disease, such as choroidal neovascularization, glaucoma and diabetic retinopathy, in either eye that may confound assessment of the retina morphologically and functionally.
Intraocular surgery in the primary study eye within 90 days prior to baseline visit.
Current or previous participation in an interventional study to treat STGD such as gene therapy or stem cell therapy. Current participation in a drug trial or previous participation in a drug trial within six months before enrollment. The use of oral supplements of vitamins and minerals are permitted although the current use of Vitamin A supplementation shall be documented.
The site Principal Investigator may declare any patient at their site ineligible to participate in the study for a sound medical reason prior to the patient’s enrollment into the study.
Any systemic disease with a limited survival prognosis (e.g. cancer, severe/unstable cardiovascular disease).
Any condition that would interfere with the patient attending their regular follow-up visits every 6 months for up to 24 months, e.g. personality disorder, use of major tranquilizers such as Haldol or Phenothiazine, chronic alcoholism, Alzheimer’s Disease or drug abuse.
Evidence of significant uncontrolled concomitant diseases such as cardiovascular, neurological, pulmonary, renal, hepatic, endocrine or gastro-intestinal disorders.
Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01977846

Contacts
Contact: Rupert Strauss, MD rstrau12@jhmi.edu

Locations
United States, Maryland
Greater Baltimore Medical Center Recruiting
Baltimore, Maryland, United States, 21204
Contact: Carol Applegate, MLA, COT capplegate@gbmc.org
Principal Investigator: Janet Sunness, MD
Wilmer Eye Institute, Johns Hopkins University Recruiting
Baltimore, Maryland, United States, 21287
Contact: Mohamed Ahmed m.ahmed@jhmi.edu
Principal Investigator: Hendrik Scholl, MD, MA
Sub-Investigator: Rupert Strauss, MD
United States, Ohio
Cole Eye Institute, Cleveland Clinic Recruiting
Cleveland, Ohio, United States, 44195
Contact: Meghan Marino, MS marinom2@ccf.org
Principal Investigator: Elias Traboulsi, MD
United States, Pennsylvania
Scheie Eye Institute, University of Pennsylvania Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Sharon Wolfe-Schwartz, MS sharon.wolfe@uphs.upenn.edu
Principal Investigator: Artur Cideciyan, PhD
United States, Texas
Retina Foundation of the Southwest Recruiting
Dallas, Texas, United States, 75231
Contact: Karen Hernandez khernandez@retinafoundation.org
Principal Investigator: David Birch, PhD
United States, Utah
Moran Eye Center, University of Utah Recruiting
Salt Lake City, Utah, United States, 84132
Contact: Kimberley Wegner, BS kimberley.wegner@hsc.utah.edu
Principal Investigator: Paul Bernstein, MD, PhD
France
Institut de la Vision Recruiting
Paris, France, 75012
Contact: Mathias Chapon, COT mchapon@cicoph.org
Principal Investigator: Jose-Alain Sahel, MD
Germany
Center for Ophthalmic Research, University of Teubingen Recruiting
Teubingen, Germany, 72076
Contact: Tilman Koenig tilman.koenig@stz-eyetrial.de
Principal Investigator: Eberthart Zrenner, PhD
United Kingdom
Moorfields Eye Hospital Recruiting
London, United Kingdom, EC1V 2PD
Contact: Vicky McCudden Vicky.Mccudden@moorfields.nhs.uk
Principal Investigator: Michel Michaelides, MD
Sponsors and Collaborators
Foundation Fighting Blindness Clinical Research Institute
Foundation Fighting Blindness
Department of Defense
Investigators
Study Chair: Hendrik Scholl, MD Wilmer Eye Institute at the Johns Hopkins University
More Information

Additional Information:
Study Website This link exits the ClinicalTrials.gov site
Study Sponsor website This link exits the ClinicalTrials.gov site

No publications provided

Responsible Party: Foundation Fighting Blindness Clinical Research Institute
ClinicalTrials.gov Identifier: NCT01977846 History of Changes
Other Study ID Numbers: FFBCRI-PROGSTAR-01/02
Study First Received: October 31, 2013
Last Updated: September 12, 2014
Health Authority: United States: Food and Drug Administration
Germany: Federal Institute for Drugs and Medical Devices
France: Institutional Ethical Committee
United Kingdom: Research Ethics Committee

Keywords provided by Foundation Fighting Blindness Clinical Research Institute:
genetic testing
ABCA4
Stargardt
retina
retinal degeneration

Additional relevant MeSH terms:
Macular Degeneration
Eye Diseases
Retinal Degeneration
Retinal Diseases

ClinicalTrials.gov processed this record on February 08, 2015

 

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Phase I/IIa Study of StarGen in Patients With Stargardt Macular Degeneration
This study is currently recruiting participants.

(see Contacts and Locations)
Verified January 2015 by Sanofi
Sponsor:
Sanofi
Information provided by (Responsible Party):
Sanofi
ClinicalTrials.gov Identifier:
NCT01367444
First received: June 3, 2011
Last updated: January 20, 2015
Last verified: January 2015
History of Changes
Full Text View Tabular ViewNo Study Results PostedDisclaimerHow to Read a Study Record
Purpose
The purpose of this first in man study is to examine the safety of an experimental gene transfer agent, StarGen, designed to treat StarGardt Macular Degeneration.
Condition Intervention Phase
Stargardt Disease
Genetic: StarGen
Phase 1
Phase 2

Study Type: Interventional
Study Design: Endpoint Classification: Safety Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: A Phase I/IIa Dose Escalation Safety Study of Subretinally Injected StarGen Administered to Patients With Stargardt Macular Degeneration

Resource links provided by NLM:

Genetics Home Reference related topics: age-related macular degeneration Stargardt macular degeneration
MedlinePlus related topics: Genes and Gene Therapy Macular Degeneration
Genetic and Rare Diseases Information Center resources: Stargardt Disease
U.S. FDA Resources

Further study details as provided by Sanofi:

Primary Outcome Measures:
The incidence of adverse events [ Time Frame: 48 weeks ] [ Designated as safety issue: Yes ]
The number and percentage of patients with treatment emergent adverse events.
Secondary Outcome Measures:
Delay in retinal degeneration [ Time Frame: 48 weeks ] [ Designated as safety issue: No ]
Changes from baseline function relative to the contralateral eye utilising retinal analytical techniques.
Estimated Enrollment: 28
Study Start Date: June 2011
Estimated Study Completion Date: February 2017
Estimated Primary Completion Date: February 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Subretinal injection StarGen
Dose escalation of subretinally injected StarGen
Genetic: StarGen
3 dose cohorts, gene therapy

Detailed Description:
There are two parts to the study. A dose-escalation phase looking at three doses of StarGen, eight patients will be recruited at the first dose level, and four each at the next two dose levels. This will be followed by a dose confirmation phase where the highest dose that is safe and well tolerated will be examined in an additional twelve patients.

Eligibility

Ages Eligible for Study: 18 Years and older
Genders Eligible for Study: Both
Accepts Healthy Volunteers: No
Criteria
Inclusion Criteria:

Clinical diagnosis of Stargardt Disease with at least one pathogenic mutation in the ABCA 4 gene on each chromosome.
Women of childbearing potential must agree to use effective contraception.
Males must agree to use to use two forms of contraception if their study partner is of child-bearing potential for three months after treatment.
Exclusion Criteria:

Pre-existing eye conditions that would preclude surgery.
Cataract surgery within six months.
Aphakia or prior vitrectomy to the study eye.
Concomitant systemic diseases that can alter visual function.
Any contraindications to pupil dilation.
Any known allergy to any of the components of StarGen or diagnostic agents.
Any injectable intravitreal treatment within the six months prior to screen.
Any periocular steroids within four months prior to screen.
Any laboratory abnormality which make the patient unsuitable for the study.
Men or women who do not agree to use contraception as specified in the inclusion criteria.
Contraindications to anesthesia.
History of prior gene transfer treatment.
Enrollment in any other clinical study during the 48 week study period.
Treatment with anticoagulants or anti-retroviral agents
Past history of HIV or hepatitis A, B or C.
Inability to comply with the demands of the study.
Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01367444

Contacts
Contact: David Wilson, M.D 503 494 3795

Locations
United States, Oregon
Oregon Health & Science University Recruiting
Portland, Oregon, United States, 97239-3098
Principal Investigator: David Wilson, MD
France
Centre Hospitalier Nationale d’Ophthalmologie des Quinze-Vingts Recruiting
Paris, France, 75571
Contact: Jose Sahel, MD. Ph.D
Principal Investigator: Jose Sahel, MD.Ph.D
Sponsors and Collaborators
Sanofi
Investigators
Principal Investigator: David Wilson, MD Oregon Health & Science University, Portland, Oregon
Principal Investigator: Jose-Alain Sahel, MD. Ph.D Hopital Nationale des Quinze-Vingt, Paris France
More Information

No publications provided

Responsible Party: Sanofi
ClinicalTrials.gov Identifier: NCT01367444 History of Changes
Other Study ID Numbers: TDU13583, SG1/001/10
Study First Received: June 3, 2011
Last Updated: January 20, 2015
Health Authority: United States: Food and Drug Administration

Keywords provided by Sanofi:
Stargardt Disease

Additional relevant MeSH terms:
Macular Degeneration
Eye Diseases
Retinal Degeneration
Retinal Diseases

ClinicalTrials.gov processed this record on February 08, 2015

 

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Sub-retinal Transplantation of hESC Derived RPE(MA09-hRPE)Cells in Patients With Stargardt’s Macular Dystrophy
This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2014 by Ocata Therapeutics
Sponsor:
Ocata Therapeutics
Information provided by (Responsible Party):
Ocata Therapeutics
ClinicalTrials.gov Identifier:
NCT01345006
First received: April 28, 2011
Last updated: November 3, 2014
Last verified: November 2014
History of Changes
Full Text View Tabular ViewNo Study Results PostedDisclaimerHow to Read a Study Record
Purpose
This is a safety and tolerability trial to evaluate the effect of subretinal injection of human embryonic stem cell derived retinal pigment epithelium cells in patients with Stargardt’s Macular Dystrophy (SMD).
Condition Intervention Phase
Stargardt’s Macular Dystrophy
Biological: MA09-hRPE
Phase 1
Phase 2

Study Type: Interventional
Study Design: Endpoint Classification: Safety Study
Intervention Model: Single Group Assignment
Masking: Open Label
Official Title: A Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (MA09-hRPE) Cells in Patients With Stargardt’s Macular Dystrophy (SMD)

Resource links provided by NLM:

Genetics Home Reference related topics: age-related macular degeneration Stargardt macular degeneration
MedlinePlus related topics: Macular Degeneration
Genetic and Rare Diseases Information Center resources: Stargardt Disease
U.S. FDA Resources

Further study details as provided by Ocata Therapeutics:

Primary Outcome Measures:
The safety and tolerance of transplantation of hESC-derived RPE cells MA09-hRPE [ Time Frame: 12 months ] [ Designated as safety issue: Yes ]
The transplantation of hESC-derived RPE cells MA09-hRPE will be considered safe and tolerated in the absence of:
Any grade 2 (NCI grading system) or greater adverse event related to the cell product
Any evidence that the cells are contaminated with an infectious agent
Any evidence that the cells show tumorigenic potential

Safety Assessments [ Time Frame: 12 months ] [ Designated as safety issue: Yes ]
Adverse Event and Serious Adverse Event assessment
Clinical monitoring
Serial vital signs
Clinical laboratory tests
Directed ophthalmological monitoring
Monitoring of RPE cells acceptance/integrity/rejection
Monitoring of local and systemic infection
Monitoring of tumorigenic cell transformation
Secondary Outcome Measures:
Evidence of successful engraftment [ Time Frame: 12 months ] [ Designated as safety issue: No ]
Evidence of successful engraftment will consist of:
Structural evidence (OCT imaging, fluorescein angiography, autofluorescence photography, slit-lamp examination with fundus photography) that cells have been implanted in the correct location
Electroretinographic evidence (mfERG) showing enhanced activity in the implant location
Estimated Enrollment: 16
Study Start Date: April 2011
Estimated Study Completion Date: December 2014
Estimated Primary Completion Date: November 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: MA09-hRPE
Patients will undergo subretinal injection of MA09-hRPE
Biological: MA09-hRPE
Cohort 1 50,000 cells

Cohort 2 100,000 cells

Cohort 2a Better Vision 100,000 cells

Cohort 3 150,000 cells

Cohort 4 200,000 cells
Detailed Description:
This study is a Phase I/II, open-label, non randomized, sequential, multi-center clinical trial. There will be 5 cohorts, the 4 low vision cohorts will contain 3 patients, the better vision cohort will contain 4 patients. The enrolled cohorts will be as follows:

Three SMD patients- 50,000 MA09-hRPE cells transplanted

Three SMD patients- 100,000 MA09-hRPE cells transplanted

Four Better Vison SMD patients- 100,000 MA09-hRPE cells transplanted

Three SMD patients- 150,000 MA09-hRPE cells transplanted

Three SMD patients- 200,000 MA09-hRPE cells transplanted

Patients will be enrolled sequentially, and within each cohort of 3 patients, each patient’s clinical course over the first 6 weeks following cell transplantation will be reviewed by an independent (DSMB) before enrollment is opened for the next 2 patients. A full safety assessment of all 3 patients in each cohort will be made by the DSMB when the 3rd patient in each cohort completes 4 weeks of follow-up, and before the first patient in the next cohort receives a cell transplant. The exception is the better vision group where all patients may be enrolled once DSMB approval has been received.

Each cohort will be enrolled sequentially in turn, with the exception of the better vision cohort which may be enrolled in parallel with the other cohorts.

The day of the cell implantation will be Day 0, and patients will remain in the study until the last visit at 12 months.

Eligibility

Ages Eligible for Study: 18 Years and older
Genders Eligible for Study: Both
Accepts Healthy Volunteers: No
Criteria
Inclusion Criteria:

Adult male or female over 18 years of age.
Clinical diagnosis of advanced SMD.
If known, the patient’s genotype will be recorded in the medical history, if unknown, patient will allow for the submission of a sample for genotyping.Clinical findings consistent with SMD.
The visual acuity of the eye to receive the transplant will be no better than 20/400. The visual acuity of the eye in the better vision cohort to receive the transplant will be no better than 20/100.
The visual acuity of the eye that is not to receive the transplant will be no better than 20/400 for the worse vision patients and no worse than 20/100 for the better vision patients.
Peripheral visual field constriction documented on standard kinetic visual field testing.
Electrophysiological findings consistent with SMD.
Medically suitable to undergo vitrectomy and subretinal injection.
Medically suitable for general anesthesia or waking sedation, if needed.
Medically suitable for transplantation of an embryonic stem cell line:
Normal serum chemistry (sequential multi-channel analyzer 20 [SMA- 20]) and hematology (complete blood count [CBC], prothrombin time [PT], and activated partial thromboplastin time [aPTT]) screening tests.
Negative urine screen for drugs of abuse.
Negative human immunodeficiency virus (HIV), hepatitis B (HBV), hepatitis C (HCV) serologies.
No history of malignancy,with the exception of successfully treated basal cell or squamous cell carcinoma of the skin.
Negative cancer screening within previous 6 months:
complete history & physical examination;
dermatological screening exam for malignant lesions;
negative fecal occult blood test & if over age 50 years, negative colonoscopy within previous 7 years;
negative chest roentgenogram (CXR);
normal CBC & manual differential;
negative urinalysis (U/A);
normal thyroid exam;
if male, normal testicular examination; if over age 40, digital rectal examination (DRE) and prostate specific antigen (PSA);
if female, normal pelvic examination with Papanicolaou smear; and
if female, normal clinical breast exam and if 40 years of age or older, negative mammogram.
If female and of childbearing potential, willing to use two effective forms of birth control during the study.
If male, willing to use barrier and spermicide contraception during the study.
Willing to defer all future blood, blood component or tissue donation. -Able to understand and willing to sign the informed consent.
Exclusion Criteria:

History of malignancy,with the exception of successfully treated basal cell or squamous cell carcinoma of the skin.
History of myocardial infarction in previous 12 months.
History of diabetes mellitus.
Any immunodeficiency.
Any current immunosuppressive therapy other than intermittent or low dose corticosteroids.
Serologic evidence of infection with Hepatitis B, Hepatitis C, or HIV.
Current participation in any other clinical trial.
Participation within previous 6 months in any clinical trial of a drug by ocular or systemic administration.
Any other sight-threatening ocular disease.
Any chronic ocular medications.
Any history of retinal vascular disease (compromised blood-retinal barrier.
Glaucoma.
Uveitis or other intraocular inflammatory disease.
Significant lens opacities or other media opacity.
Ocular lens removal within previous 3 months.
If female, pregnancy or lactation.
Any other medical condition, which, in the Investigator’s judgment, will interfere with the patient’s ability to comply with the protocol, compromises patient safety, or interferes with the interpretation of the study results.
Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01345006

Locations
United States, California
Jules Stein Eye Institute, UCLA School of Medicine Recruiting
Los Angeles, California, United States, 90095
Contact: Logan Hitchcock 310-825-3046
Principal Investigator: Steven Schwartz, MD
United States, Florida
Bascom Palmer Eye institute Recruiting
Miami, Florida, United States, 33136
Contact: Alexis Morante, MS 305-482-5186 AMorante@med.miami.edu
Principal Investigator: Byron Lam, MD
United States, Pennsylvania
Wills Eye Institute-Mid Atlantic Retina Recruiting
Philadelphia, Pennsylvania, United States, 19107
Contact: Shellie Markun research@midatlanticretina.com
Principal Investigator: Carl D Regillo, MD
Sponsors and Collaborators
Ocata Therapeutics
Investigators
Principal Investigator: Steven Schwartz, MD Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA
Principal Investigator: Carl Regillo, MD Wills Eye Institute, Philadelphia, PA
Principal Investigator: Byron Lam, MD Bascom Palmer Eye Institute, Miami, FL
More Information

No publications provided by Ocata Therapeutics

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Schwartz SD, Hubschman JP, Heilwell G, Franco-Cardenas V, Pan CK, Ostrick RM, Mickunas E, Gay R, Klimanskaya I, Lanza R. Embryonic stem cell trials for macular degeneration: a preliminary report. Lancet. 2012 Feb 25;379(9817):713-20. doi: 10.1016/S0140-6736(12)60028-2. Epub 2012 Jan 24.

Responsible Party: Ocata Therapeutics
ClinicalTrials.gov Identifier: NCT01345006 History of Changes
Other Study ID Numbers: ACT SMD 01 MA09-hRPE
Study First Received: April 28, 2011
Last Updated: November 3, 2014
Health Authority: United States: Food and Drug Administration

Keywords provided by Ocata Therapeutics:
SMD
fundus flavimaculatus
juvenile macular dystrophy

Additional relevant MeSH terms:
Macular Degeneration
Eye Diseases
Retinal Degeneration
Retinal Diseases

ClinicalTrials.gov processed this record on February 08, 2015

 

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High Resolution Retinal Imaging (AOSLO)
This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2014 by University of Pennsylvania
Sponsor:
University of Pennsylvania
Collaborator:
National Eye Institute (NEI)
Information provided by (Responsible Party):
University of Pennsylvania
ClinicalTrials.gov Identifier:
NCT01866371
First received: May 28, 2013
Last updated: December 12, 2014
Last verified: December 2014
History of Changes
Full Text View Tabular ViewNo Study Results PostedDisclaimerHow to Read a Study Record
Purpose
Studying the morphology and function of the normal and diseased retina in vivo is needed for advancing the detection, diagnosis, and treatment of retinal disease. This protocol uses an adaptive optics scanning laser ophthalmoscope (AOSLO) to image the normal and diseased retina with individual cellular resolution non-invasively. The primary objective of this study is to obtain and analyze high-resolution images of the retina, in particular by imaging the cone photoreceptor mosaic, the retinal vasculature and other retinal layers. The study design will involve case-control studies, where cases are followed over time. Subjects age 7 and older may be invited to participate. The main research procedure involves retinal imaging with the AOSLO. The primary endpoint is the observation of differences in retinal images between subjects with and without retinal diseases. These changes will be quantified by examining the cell density, size, spacing and regularity of the cone photoreceptor mosaic, as well as examining the differences between other retinal layers.
Condition Intervention
Stargardts
Retinitis Pigmentosa
Age-related Macular Degeneration
Choroideremia
Geographic Atrophy
Procedure: Retinal imaging

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: High Resolution Retinal Imaging

Resource links provided by NLM:

Genetics Home Reference related topics: age-related macular degeneration choroideremia Lenz microphthalmia syndrome oculofaciocardiodental syndrome retinitis pigmentosa
MedlinePlus related topics: Macular Degeneration
Genetic and Rare Diseases Information Center resources: Choroideremia Cone-rod Dystrophy Cone-rod Dystrophy 2 Pigmentary Retinopathy Retinitis Pigmentosa Uveal Diseases
U.S. FDA Resources

Further study details as provided by University of Pennsylvania:

Primary Outcome Measures:
high-resolution images of retina [ Time Frame: 1 day (initial visit) ] [ Designated as safety issue: No ]
The primary objective of this study is to obtain and analyze high-resolution images of the retina in normal and diseased eyes non-invasively.
Secondary Outcome Measures:
Cone mosaic parameters [ Time Frame: 1 day (initial visit) ] [ Designated as safety issue: No ]
Imaging the cone photoreceptor mosaic, and analyzing cell density, size, spacing, regularity, and other mosaic parameters in normal retina compared to diseased retina.
Estimated Enrollment: 600
Study Start Date: May 2013
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Retinal degeneration
This group will include patients with retinal degeneration and vision abnormalities. The group will participate in retinal imaging procedures including adaptive optics imaging, optical coherence tomography and fundus photography. Vision may be assessed using microperimetry, visual fields, and visual acuity.
Procedure: Retinal imaging
Retinal imaging procedures include adaptive optics imaging, optical coherence tomography and fundus photography.
Normal control
This group will include individuals without retinal degeneration. The group will participate in retinal imaging procedures including adaptive optics imaging, optical coherence tomography and fundus photography. Vision may be assessed using microperimetry, visual fields, and visual acuity.
Procedure: Retinal imaging
Retinal imaging procedures include adaptive optics imaging, optical coherence tomography and fundus photography.

Eligibility

Ages Eligible for Study: 7 Years and older
Genders Eligible for Study: Both
Accepts Healthy Volunteers: Yes
Sampling Method: Non-Probability Sample
Study Population
Individuals age 7 and older will be recruited for purposes of this study. Adults must have the capacity to give informed consent. Subjects age 7 to 17 will need parent/guardian consent to participate in the study. Subjects aged 7 to 17 will need to assent to participate in the study. We will recruit subjects with both normal (disease-free) retinas and subjects with retinal degenerations including Leber’s Congenital Amaurosis, Stargardt’s Dystrophy, retinitis pigmentosa, age-related macular degeneration, Choroideremia, Geographic Atrophy, etc. Subjects will not be excluded based on ethnic or racial background; we expect that enrollment will be split evenly between males and females.

Criteria
Inclusion Criteria:

Males or females age 7 years or older.
Parental/guardian permission (informed consent) and if appropriate, child assent. Child subjects age 7-17 must give assent.
Reasonable compliance with an imaging protocol as determined by the study personnel.
Exclusion Criteria:

Individuals that are at risk to acute glaucoma.
Individuals that are photophobic and experience adverse psychological reactions to flashes of light.
Ocular opacities, high refractive error, and high frequency of nystagmus as determined by the study team.
Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01866371

Contacts
Contact: Jessica IW Morgan, PhD 215-614-4196 jwmorgan@mail.med.upenn.edu

Locations
United States, Pennsylvania
University of Pennsylvania Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Jessica IW Morgan, PhD 215-614-4196 jwmorgan@mail.med.upenn.edu
Sponsors and Collaborators
University of Pennsylvania
National Eye Institute (NEI)
Investigators
Principal Investigator: Jessica IW Morgan, PhD University of Pennsylvania
More Information

No publications provided by University of Pennsylvania

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Morgan JI, Han G, Klinman E, Maguire WM, Chung DC, Maguire AM, Bennett J. High-resolution adaptive optics retinal imaging of cellular structure in choroideremia. Invest Ophthalmol Vis Sci. 2014 Sep 4;55(10):6381-97. doi: 10.1167/iovs.13-13454.

Responsible Party: University of Pennsylvania
ClinicalTrials.gov Identifier: NCT01866371 History of Changes
Other Study ID Numbers: 817019, R24EY019861
Study First Received: May 28, 2013
Last Updated: December 12, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by University of Pennsylvania:
Retina
imaging
retinal degeneration

Additional relevant MeSH terms:
Choroideremia
Geographic Atrophy
Macular Degeneration
Retinitis Pigmentosa
Choroid Diseases
Eye Diseases
Eye Diseases, Hereditary
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Retinal Degeneration
Retinal Diseases
Retinal Dystrophies
Uveal Diseases

ClinicalTrials.gov processed this record on February 08, 2015

 

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Stem Cell Ophthalmology Treatment Study (SCOTS)
This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2014 by Retina Associates of South Florida
Sponsor:
Retina Associates of South Florida
Collaborator:
MD Stem Cells
Information provided by (Responsible Party):
Retina Associates of South Florida
ClinicalTrials.gov Identifier:
NCT01920867
First received: August 8, 2013
Last updated: December 29, 2014
Last verified: November 2014
History of Changes
Full Text View Tabular ViewNo Study Results PostedDisclaimerHow to Read a Study Record
Purpose
This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease.
Condition Intervention
Retinal Disease
Macular Degeneration
Hereditary Retinal Dystrophy
Optic Nerve Disease
Glaucoma
Procedure: RB (Retrobulbar)
Procedure: ST (Subtenon)
Procedure: IV (Intravenous)
Procedure: IVIT (Intravitreal)
Procedure: IO (Intraocular)

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Endpoint Classification: Efficacy Study
Intervention Model: Parallel Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Bone Marrow Derived Stem Cell Ophthalmology Treatment Study

Resource links provided by NLM:

Genetics Home Reference related topics: age-related macular degeneration early-onset glaucoma neuromyelitis optica retinitis pigmentosa Stargardt macular degeneration
MedlinePlus related topics: Macular Degeneration Neurologic Diseases Retinal Disorders
Genetic and Rare Diseases Information Center resources: Cone Dystrophy Cone-rod Dystrophy Cone-rod Dystrophy 2 Cone-rod Dystrophy 6 Devic Disease Optic Neuropathy, Anterior Ischemic Pigmentary Retinopathy Retinitis Pigmentosa Stargardt Disease
U.S. FDA Resources

Further study details as provided by Retina Associates of South Florida:

Primary Outcome Measures:
Visual acuity [ Time Frame: 1 day to 12 months ] [ Designated as safety issue: No ]
Best corrected visual acuity will be measured with Snellen Eye Chart and the ETDRS (Early Treatment Diabetic Retinopathy Study)Eye Chart when available at each post- procedure visit. Intervals at minimum will be first post- procedure day,then 3 months, 6 months and 12 months post-procedure day. Recommended visit 1 month post -procedure day.
Secondary Outcome Measures:
Visual fields [ Time Frame: 1 day to 12 months ] [ Designated as safety issue: No ]
Visual fields will be evaluated with automated perimetry during post- procedure visits as needed and specifically at 6 months and 12 months.
Estimated Enrollment: 300
Study Start Date: August 2013
Estimated Study Completion Date: August 2017
Estimated Primary Completion Date: August 2016 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Active Comparator: RB, ST, IV
Injections of BMSC retrobulbar (RB), subtenon (ST) and intravenous (IV)
Procedure: RB (Retrobulbar)
Retrobulbar injection of Bone Marrow Derived Stem Cells (BMSC)
Other Name: Retrobulbar injection of stem cells
Procedure: ST (Subtenon)
Subtenon injection of Bone Marrow Derived Stem Cells (BMSC)
Other Name: Subtenon injection of stem cells
Procedure: IV (Intravenous)
Intravenous injection of Bone Marrow Derived Stem Cells (BMSC)
Other Name: Intravenous injection of stem cells
Active Comparator: RB, ST, IV, IVIT
Injections of BMSC retrobulbar, subtenon, intravenous and intravitreal (IVIT)
Procedure: RB (Retrobulbar)
Retrobulbar injection of Bone Marrow Derived Stem Cells (BMSC)
Other Name: Retrobulbar injection of stem cells
Procedure: ST (Subtenon)
Subtenon injection of Bone Marrow Derived Stem Cells (BMSC)
Other Name: Subtenon injection of stem cells
Procedure: IV (Intravenous)
Intravenous injection of Bone Marrow Derived Stem Cells (BMSC)
Other Name: Intravenous injection of stem cells
Procedure: IVIT (Intravitreal)
Intravitreal injection of Bone Marrow Derived Stem Cells (BMSC)
Other Name: Intravitreal injection of stem cells
Active Comparator: RB, ST, IV, IO
Injection of BMSC retrobulbar, subtenon, intravenous and intraocular (IO) with vitrectomy
Procedure: RB (Retrobulbar)
Retrobulbar injection of Bone Marrow Derived Stem Cells (BMSC)
Other Name: Retrobulbar injection of stem cells
Procedure: ST (Subtenon)
Subtenon injection of Bone Marrow Derived Stem Cells (BMSC)
Other Name: Subtenon injection of stem cells
Procedure: IV (Intravenous)
Intravenous injection of Bone Marrow Derived Stem Cells (BMSC)
Other Name: Intravenous injection of stem cells
Procedure: IO (Intraocular)
Intraocular injection of Bone Marrow Derived Stem Cells (BMSC) with vitrectomy prior to intraocular injection. For example, may include larger amount of stem cells in the intravitreal cavity, intraneuronal injections or subretinal injections of stem cells.
Other Name: Intraocular injection of stem cells with vitrectomy

Detailed Description:
Eyes with loss of vision from retinal or optic nerve conditions generally considered irreversible will be treated with a combination of injections of autologous bone marrow derived stem cells isolated from the bone marrow using standard medical and surgical practices. Retinal conditions may include degenerative, ischemic or physical damage ( examples may include macular degeneration, hereditary retinal dystrophies such as retinitis pigmentosa, stargardt, non-perfusion retinopathies, post retinal detachment. Optic Nerve conditions may include degenerative, ischemic or physical damage ( examples may include optic nerve damage from glaucoma, compression, ischemic optic neuropathy, optic atrophy ). Injections may include retrobulbar, subtenon, intravitreal, intraocular, subretinal and intravenous. Patients will be followed for 12 months with serial comprehensive eye examinations including relevant imaging and diagnostic ophthalmic testing.

Eligibility

Ages Eligible for Study: 18 Years and older
Genders Eligible for Study: Both
Accepts Healthy Volunteers: No
Criteria
Inclusion Criteria:

Have objective, documented damage to the retina or optic nerve unlikely to improve OR
Have objective, documented damage to the retina or optic nerve that is progressive
AND have less than or equal to 20/40 best corrected central visual acuity in one or both eyes AND/OR an abnormal visual field in one or both eyes.
Be at least 3 months post-surgical treatment intended to treat any ophthalmologic disease and stable.
If under current medical therapy ( pharmacologic treatment) for a retinal or optic nerve disease be considered stable on that treatment and unlikely to have visual function improvement ( for example, glaucoma with intraocular pressure stable on topical medications but visual field damage ).
Have the potential for improvement with BMSC treatment and be at minimal risk of any potential harm from the procedure.
Be over the age of 18
Be medically stable and able to be medically cleared by their primary care physician or a licensed primary care practitioner for the procedure. Medical clearance means that in the estimation of the primary care practitioner, the patient can reasonably be expected to undergo the procedure without significant medical risk to health.
Exclusion Criteria:

Patients who are not capable of an adequate ophthalmologic examination or evaluation to document the pathology.
Patients who are not capable or not willing to undergo follow up eye exams with the principle investigator or their ophthalmologist or optometrist as outlined in the protocol.
Patients who are not capable of providing informed consent.
Patients who may be at significant risk to general health or to the eyes and visual function should they undergo the procedure.
Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01920867

Contacts
Contact: Steven Levy, MD 203-423-9494 info@mdstemcells.com

Locations
United States, Florida
Retina Associates of South Florida Recruiting
Margate, Florida, United States, 33063
Contact: Steven Levy, MD 203-423-9494 info@mdstemcells.com
Principal Investigator: Jeffrey Weiss, MD
Sub-Investigator: Steven Levy, MD
Sponsors and Collaborators
Retina Associates of South Florida
MD Stem Cells
Investigators
Principal Investigator: Jeffrey Weiss, MD Retina Associates of South Florida
Study Director: Steven Levy, MD MD Stem Cells
More Information

No publications provided

Responsible Party: Retina Associates of South Florida
ClinicalTrials.gov Identifier: NCT01920867 History of Changes
Other Study ID Numbers: ICMS-2013-0019.
Study First Received: August 8, 2013
Last Updated: December 29, 2014
Health Authority: United States: Institutional Review Board
United States: Federal Government
United States: Data and Safety Monitoring Board

Keywords provided by Retina Associates of South Florida:
Stargardt Disease
Stem Cells
Bone Marrow Derived Stem Cells
BMSC
BMC (Bone Marrow Cell)
Mesenchymal Stem Cells
MSC
Eye Disease
Eye Stem Cells
Ophthalmology
Ophthalmic Disease
Retina
Retinal Disease
Macular Degeneration
Age Related Macular Degeneration
Myopic Macular Degeneration
Geographic Atrophy
Dry Macular Degeneration
Wet Macular Degeneration
Retinal Atrophy
Retinal Dystrophy
Hereditary Retinal Dystrophy
Retinitis Pigmentosa
Cone Dystrophy
Cone Rod Dystrophy
Maculopathy
Optic Nerve Disease
Optic Nerve Atrophy
Optic Atrophy
Ischemic Optic Neuropathy

Additional relevant MeSH terms:
Macular Degeneration
Nervous System Diseases
Optic Nerve Diseases
Retinal Diseases
Retinal Dystrophies
Cranial Nerve Diseases
Eye Diseases
Retinal Degeneration

ClinicalTrials.gov processed this record on February 08, 2015

 

……………………………………………………………………………………………….

 

Natural History of Eye Diseases Related to ABCA4 Mutations
This study is currently recruiting participants.

(see Contacts and Locations)
Verified June 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
National Eye Institute (NEI)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )
ClinicalTrials.gov Identifier:
NCT01736293
First received: November 27, 2012
Last updated: August 15, 2014
Last verified: June 2014
History of Changes
Full Text View Tabular ViewNo Study Results PostedDisclaimerHow to Read a Study Record
Purpose
Background:

The ABCA4 gene contains a blueprint for the ABCA4 protein. When this protein is absent or faulty (such as in Stargardt s disease), waste material from dead cells collects in the eye. The waste material may cause other cells in the eye to die. This can lead to the loss of vision. Researchers want to look at blood and skin samples from people with ABCA4 gene mutations to study related eye diseases.

Objectives:

To study eye diseases that are related to mutations in the ABCA4 gene.

Eligibility:

– Individuals at least 12 years of age who have ABCA4 gene mutations.

Design:

The study requires seven visits to the National Eye Institute clinic over 5 years. In the first year, there will be three visits. After the first year, participants will have one visit a year for 4 more years.
Participants will be screened with a physical exam, full eye exam, and medical history. The eye exam will check eye pressure, light and color sensitivity, and retina function.
Participants will provide a blood sample and a skin tissue sample for study.
No treatment will be provided as part of this study.

Condition
Retinal Degeneration
ABCA4-Related Retinopathies

Study Type: Observational
Official Title: Natural History of ABCA4-Related Retinopathies

Resource links provided by NLM:

MedlinePlus related topics: Eye Diseases Retinal Disorders
U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
The primary outcome for this study is the establishment of a cohort of participants with ABCA4-related retinopathies.

Secondary Outcome Measures:
Additional, exploratory outlines are listed in the precis.
The secondary outcome for this study is the creation of a repository of plasma, DNA, and skin fibroblast samples from the accrued cohort of ABCA4-related retinopathy participants.

Estimated Enrollment: 45
Study Start Date: September 2012
Detailed Description:
Objectives: The objectives of this study are to 1) establish a cohort of participants with ABCA4-related retinopathies in anticipation of future clinical trials, 2) create a repository of plasma, DNA, and skin fibroblast samples from the accrued cohort of ABCA4-related retinopathy participants, 3) formulate clinical outcome measures for future studies, and 4) acquire and perform preliminary analyses of data that may advance our understanding of genotype-phenotype correlations in ABCA4-related retinopathies.

In addition, the skin fibroblast samples collected from participants may be used to generate iPS cells, which may be differentiated into RPE and/or neural retinal cells. These cells, if produced, will be used to analyze molecular mechanisms involved in disease pathogenesis and to perform high throughput (HTP) drug screens to identify novel potential therapeutic compounds.

Study Population: Forty (45) participants, age 12 or above, with ABCA4-related retinopathies will be accrued for this study.

Design: In this natural history study, participants will be followed for five years. Because three years may be required to enroll 45 participants, this study will last up to eight years. Participants will be recruited through other pre-existing NIH protocols, such as the NEI Evaluation and Treatment Trial (08-EI-0169), the NEI Screening Protocol (08-EI-0102), and the National Ophthalmic Disease Genotyping and Phenotyping Network, Phase II protocol (eyeGENE II, 10-EI-N164), or through referral from an outside clinician after a review of pertinent medical records and genetic testing. All participants will undergo a standardized medical/ophthalmic history and a complete baseline eye examination, including non-invasive electrophysiology (e.g., electroretinography), psychophysiology (e.g., microperimetry, static perimetry), and diagnostic imaging examinations (e.g., optical coherence tomography).

The participants will be examined three times over the course of the first year (i.e., baseline examination, Month 6, and Month 12). After the first year, they will return to the NEI clinic on an annual basis for the next four years. This study will require a minimum of seven study visits. Participants may be seen at more frequent intervals at the investigators discretion, depending on the clinical and research situation. Participants will be required to submit a blood sample as part of the study for DNA and serum banking, and they will have the option to provide a 3 mm punch skin biopsy to facilitate research at a cellular level.

Outcome Measures: The primary outcome for this study is the establishment of a cohort of participants with ABCA4-related retinopathies, and the secondary outcome is the creation of a repository of plasma, DNA, and skin fibroblast samples from the accrued cohort of ABCA4-related retinopathy participants. Exploratory outcomes for this study include: 1) the formulation of clinical outcome measures for future studies and 2) the acquisition and preliminary analysis of data that may advance our understanding of genotype-phenotype correlations in ABCA4-related retinopathies. Potential exploratory outcomes include: 1) the generation of iPS cells from the skin fibroblast samples, 2) the differentiation of the generated iPS cells into RPE and/or neural retinal cells, and 3) the use of the participant-specific RPE and/or neural retinal cells to perform HTP drug screens to identify novel potential therapeutic compounds. The cells obtained in this protocol may be genetically modified and may be used for in vivo research.

Eligibility

Ages Eligible for Study: 12 Years and older
Genders Eligible for Study: Both
Accepts Healthy Volunteers: No
Criteria
NCLUSION CRITERIA:
Participant must be 12 years of age or older.

Participant (or legal guardian) must understand and sign the protocol s informed consent document.

Participant must be able to cooperate with detailed psychophysics and electrophysiology testing.

Participant must be able to provide a blood sample.

Participant has either:

-Two (or more) clear mutations in the ABCA4 gene (ascertained with CLIA-certified testing) that are known to be associated with retinal disease,

OR

-One clear mutation in ABCA4 associated with a classic presentation of fundus flavimaculatus/Stargardt macular dystrophy (e.g., flecks, macular atrophy).

EXCLUSION CRITERIA:

Participant has evidence of a systemic condition or ocular disease not related to ABCA4 mutations that would complicate the analysis of psychophysical, electrophysiological, or imaging data. For example, a participant with advanced diabetes mellitus and significant diabetic retinopathy may display changes in retinal function that could be related to either his/her diabetic retinopathy or ABCA4 mutations.

Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01736293

Contacts
Contact: Allison T Bamji, R.N. (301) 451-3437 bamjia@nei.nih.gov
Contact: Brian P Brooks, M.D. (301) 496-3577 brooksb@mail.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 prpl@mail.cc.nih.gov
Sponsors and Collaborators
National Eye Institute (NEI)
Investigators
Principal Investigator: Brian P Brooks, M.D. National Eye Institute (NEI)
More Information

Additional Information:
NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:
Allikmets R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997 Sep;17(1):122.
Gomes NL, Greenstein VC, Carlson JN, Tsang SH, Smith RT, Carr RE, Hood DC, Chang S. A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease. Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3953-9. doi: 10.1167/iovs.08-2657. Epub 2009 Mar 25.
González F, Boué S, Izpisúa Belmonte JC. Methods for making induced pluripotent stem cells: reprogramming à la carte. Nat Rev Genet. 2011 Apr;12(4):231-42. doi: 10.1038/nrg2937. Epub 2011 Feb 22. Review.

Responsible Party: National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )
ClinicalTrials.gov Identifier: NCT01736293 History of Changes
Other Study ID Numbers: 120203, 12-EI-0203
Study First Received: November 27, 2012
Last Updated: August 15, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Retinal Degeneration

Additional relevant MeSH terms:
Retinal Degeneration
Retinal Diseases
Eye Diseases

ClinicalTrials.gov processed this record on February 08, 2015

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