The Natural History of the Progression of Atrophy Secondary to Stargardt Disease: A Prospective Longitudinal Observational Study (the PROGSTAR study)

Overview

Status: Enrolling by invitation
Keywords: Stargardt Disease , Natural history
IRB Number: 00064475
Specialty: Ophthalmology
Sub Specialties: Retinal Diseases

Brief Summary

Stargardt disease is currently an incurable and untreatable macular dystrophy that causes severe visual loss in children and young adults, thereby causing enrmous 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.

This study is an observational study of the natural course of Stargardt disease. It will include data from the results of both psychophysical examinations (visual acuity testing, fundus photography, and microperimetry) and retinal imaging examinations (optical coherence tomography and fundus autofluorescence), which are an integral part of current standard of care routine in patients with STGD.

The primary objective is to assess the yearly rate of progression of Stargardt disease using the growth of atrophic lesions as measured by fundus autofluorescence imaging.

The secondary objectives are:

To assess the yearly rate of progression of Stargardt disease using the rate of retinal thinning and the rate of loss of photoreceptors as measured by spectral-domain optical coherence tomography

To assess the yearly rate of loss of retinal sensitivity as measured by microperimetry

To correlate the presence and progression of morphological abnormalities in fundus autofluorescence and spectral-domain optical coherence tomography images with visual function as measured by microperimetry and visual acuity.

To perform exploratory analysis that examines factors associated with effects on Stargardt disease progression, such as the use of vitamin A supplementation and mutations in the ABCA4 gene

Principal Investigator: Paul Bernstein
Department: Ophthalmology-Services
Co Investigator:

Contact Information

Name:Kimberley Wegner
Phone: 801-581-6265
Email: kimberley.wegner@hsc.utah.edu

Inclusion Criteria

1. Provide a signed informed consent form and authorization allowing the disclosure and use of protected health information.

2. 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.

3. 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.

4. 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.

5. Be able to cooperate in performing the examinations.

6. Be willing to undergo ocular examinations once every 6 months for up to 24 months.

7. Be at least six years old.

8. Both eyes can be included if inclusion criteria are fulfilled for both eyes.

Exclusion Criteria

1. Ocular disease, such as choroidal neovascularization, glaucoma and diabetic retinopathy, in either eye that may confound assessment of the retina morphologically and functionally.

2. Intraocular surgery in the primary study eye within 90 days prior to baseline visit.

3. 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.

4. 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.

5. Any systemic disease with a limited survival prognosis (e.g. cancer, severe/unstable cardiovascular disease).

6. 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.

7. Evidence of significant uncontrolled concomitant diseases such as cardiovascular, neurological, pulmonary, renal, hepatic, endocrine or gastro-intestinal disorders.