This trial is active, not recruiting.

Condition stargardt disease
Sponsor Foundation Fighting Blindness Clinical Research Institute
Collaborator Foundation Fighting Blindness
Start date August 2013
End date January 2017
Trial size 200 participants
Trial identifier NCT01977846, FFBCRI-PROGSTAR-01/02


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.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Observational model case-only

Primary Outcomes

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

Secondary Outcomes

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
To assess the yearly rate of loss of retinal sensitivity as measured by microperimetry.
time frame: 4 to 7 years
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
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
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
To assess the yearly rate of loss of retinal sensitivity as measured by scotopic microperimetry.
time frame: 2 years

Eligibility Criteria

Male or female participants at least 6 years old.

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.

Additional Information

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
Trial information was received from ClinicalTrials.gov and was last updated in October 2015.
Information provided to ClinicalTrials.gov by Foundation Fighting Blindness Clinical Research Institute.