Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt Disease

Study Overview
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Brief Summary
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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.

Detailed Description
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This study will evaluate whether more sophisticated testing and analytic methodologies, including fundus autofluorescence (FAF) and a novel non-invasive method to measure retinal flavoprotein fluorescence (FPF) may be used to better predict Stargardt macular dystrophy progression and monitor treatment effects than conventional modalities such visual acuity and visual field. This method involves the use of novel statistical methods to assess the heterogeneity of fundus autofluorescence images. Participants will complete 3 visits to the University of Michigan Kellogg Eye Center. Each visit will take approximately 2.5 hours. The initial visit will include a routine clinical eye examination, measurement of best-corrected visual acuity, indirect ophthalmoscopy, microperimetry, frequency-domain optical coherence tomography, Goldmann visual fields, fundus flavoprotein fluorescence (FPF) imaging, and fundus autofluorescence (FAF) and fundus photography. Patients will return for evaluation at 6 and 12 months after their initial visit to repeat testing and imaging.

Official Title
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Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin Fluorescence to Detect Progression in Stargardt Disease

Conditions
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Stargardt Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Between the age of 5 and 18 years old Clinical diagnosis of Stargardt Disease Molecular confirmation of Stargardt Disease (with 2 identified mutations in ABCA4) Visual acuity better than 20/100 Exclusion Criteria: Limited central vision, defined as visual acuity worse than 20/100 A diagnosis of any other retinal degenerative disease

Ages Eligible for Study
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Minimum Age: 5 Years
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change from baseline in pixel intensity quantification of fundus autofluorescence at 6 months |  | 0 months, 6 months | 
| Change from baseline in pixel intensity quantification of flavoprotein autofluorescence at 6 months |  | 0 months, 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change from baseline in pixel intensity quantification of fundus autofluorescence at 12 months |  | 0 months, 12 months | 
| Change from baseline in pixel intensity quantification of flavoprotein autofluorescence at 12 months |  | 0 months, 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Stargardt Disease, Macular degeneration, Retinal dystrophy