View clinical trials related to Stargardt Disease.
Filter by:Primary Objective: To evaluate the long-term safety and tolerability of SAR422459 in patients with Stargardt's Macular Degeneration. Secondary Objective: To assess: - Safety - Biological activity
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 12 visits to the National Eye Institute clinic over 10 years. In the first year, there will be three visits. After the first year, participants will have one visit a year for 9 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.
The purpose of this study is to utilize flavoprotein fluorescence and fundus autofluorescence to detect progression of Stargardt macular dystrophy in a pediatric population over the course of a year with the hope of aiding future therapeutic risk-benefit decisions and assessment of outcomes. Stargardt macular dystrophy is the most common of the juvenile-onset macular dystrophies. Despite determination of ABCA4 as the causative gene, clinicians have been challenged by variability in clinical phenotypes. Given the recent initiation of clinical trials to assess novel treatments (e.g. gene therapy), there is a need to identify patients with the worst prognosis. The investigators have observed that pediatric patients lose central visual function faster than their adult counterparts. Thus, they present an ideal cohort with which to determine the utility of novel modalities to detect early change. These include flavoprotein fluorescence, a new imaging technique for detecting mitochondrial dysfunction developed at the University of Michigan. Fundus autofluorescence (FAF) is another commonly utilized technique of evaluating hereditary eye diseases. The investigators have developed a novel means of quantifying FAF signatures that will allow documentation of severity as well as detection of progression.
The purpose of this study is to evaluate the safety and tolerability of RPE cellular therapy in patients with SMD
Primary Objective: To assess the safety and tolerability of ascending doses of SAR422459 in participants with Stargardt's Macular Degeneration (SMD). Secondary Objective: To evaluate for possible biological activity of SAR422459.