A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies (ProgSTAR)

October 30, 2019 updated by: Foundation Fighting Blindness

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

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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

259

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75012
        • Institut de la Vision
  • Germany
      • Tübingen, Germany, 72076
        • Center for Ophthalmic Research, University of Teubingen
  • United Kingdom
      • London, United Kingdom, EC1V 2PD
        • Moorfields Eye Hospital
  • United States
    • Maryland
      • Baltimore, Maryland, United States, 21204
        • Greater Baltimore Medical Center
      • Baltimore, Maryland, United States, 21287
        • Wilmer Eye Institute, Johns Hopkins University
    • Ohio
      • Cleveland, Ohio, United States, 44195
        • Cole Eye Institute, Cleveland Clinic
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Scheie Eye Institute, University of Pennsylvania
    • Texas
      • Dallas, Texas, United States, 75231
        • Retina Foundation of the Southwest
    • Utah
      • Salt Lake City, Utah, United States, 84132
        • Moran Eye Center, University of Utah

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

4 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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.

Description

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 fundus autofluorescence (FAF) and Spectral-Domain optical coherence tomography (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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Yearly Progression Rate of Atrophic Lesions Using Fundus Autofluorescence (FAF) Images
Time Frame: 2-12 years
Yearly increase in area of decreased auto-fluorescence (DAF) which is defined as the sum of definite and questionable decreased auto-fluorescence
2-12 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Yearly Rate of Loss of Retinal Sensitivity as Measured by Scotopic Microperimetry (MP)
Time Frame: 2 years
The yearly rate of change in retinal sensitivity. Sensitivity tested with a Nidek MP-1 machine using a modified Humphrey 10-2 grid. The sensitivity was the average sensitivity from a 68-points test pattern (Prospective cohort only)
2 years
Yearly Rate of Visual Acuity Loss
Time Frame: 2-12 years
Yearly change of visual acuity. Visual acuity measures of best-corrected or presenting VA extracted from medical record charts. Prospective cohort is best-corrected visual acuity using Early-Treatment Diabetic Retinopathy study methods
2-12 years
Difference in the Rate of Retinal Sensitivity Change Per Year Between Photopic and Scotopic Micro-perimetry Testing
Time Frame: 2 years
Difference in the yearly rate of change in retinal sensitivity under photopic and scotopic conditions. Sensitivity tested with a Nidek MP-1. Scotopic sensitivity was obtained using a 40 points test pattern, and photopic sensitivity was obtained using a 68 points test pattern in a subset of Prospective cohort patients
2 years
Yearly Rate of Loss of Overall Retinal Thickness
Time Frame: Participants followed at Baseline, 6 months, 12 months and 24 months
Yearly decrease of overall retinal thickness using spectral domain optical coherence tomography (SD-OCT) scans from a 20° x 20° scan area centered on the fovea. Data are only available for the Prospective cohort.
Participants followed at Baseline, 6 months, 12 months and 24 months
Yearly Rate of Loss of Outer Ring Retinal Thickness
Time Frame: Participants followed at Baseline, 6 months, 12 months and 24 months
Yearly decrease of outer ring retinal thickness using SD-OCT scans from a 20° x 20° scan area centered on the fovea. Outer ring defined as ETDRS fields 1-4.
Participants followed at Baseline, 6 months, 12 months and 24 months
Yearly Rate of Loss of the Inner Ring Retinal Thickness
Time Frame: Participants followed at Baseline, 6 months, 12 months and 24 months
Yearly decrease of the inner ring retinal thickness using SD-OCT scans from a 20° x 20° scan area centered on the fovea. Inner ring defined as ETDRS fields 5-8. Data are only available for the Prospective cohort.
Participants followed at Baseline, 6 months, 12 months and 24 months
Yearly Rate of Loss of the Central Ring Retinal Thickness
Time Frame: Participants followed at Baseline, 6 months, 12 months and 24 months
Yearly decrease of the central ring retinal thickness using SD-OCT scans from a 20° x 20° scan area centered on the fovea. Central area defined as ETDRS fields 9. Data are only available for the Prospective cohort.
Participants followed at Baseline, 6 months, 12 months and 24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Foundation Fighting Blindness

Collaborators

United States Department of Defense

Investigators

  • Study Chair: Hendrik Scholl, MD, Wilmer Eye Institute at the Johns Hopkins University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

August 1, 2013

Primary Completion (Actual)

February 1, 2017

Study Completion (Actual)

February 1, 2017

Study Registration Dates

First Submitted

October 31, 2013

First Submitted That Met QC Criteria

October 31, 2013

First Posted (Estimate)

November 7, 2013

Study Record Updates

Last Update Posted (Actual)

November 1, 2019

Last Update Submitted That Met QC Criteria

October 30, 2019

Last Verified

July 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • FFBCRI-PROGSTAR-01/02

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Stargardt Disease

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Tanzania

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe