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

NCT01977846 | Completed Results

• 1 other identifier: FFBCRI-PROGSTAR-01/02
• Study Type: observational
• Target: 259
• Locations: 4 countries
• Sites: 9

Brief Summary

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.

Conditions

Stargardt Disease

Keywords

genetic testing; ABCA4; Stargardt; retina; retinal degeneration

Outcome Measures

Primary Outcomes (1)

• Yearly Progression Rate of Atrophic Lesions Using Fundus Autofluorescence (FAF) Images

  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 Outcomes (7)

• Yearly Rate of Loss of Retinal Sensitivity as Measured by Scotopic Microperimetry (MP)

  2 years

• Yearly Rate of Visual Acuity Loss

  2-12 years

• Difference in the Rate of Retinal Sensitivity Change Per Year Between Photopic and Scotopic Micro-perimetry Testing

  2 years

• Yearly Rate of Loss of Overall Retinal Thickness

  Participants followed at Baseline, 6 months, 12 months and 24 months

• Yearly Rate of Loss of Outer Ring Retinal Thickness

  Participants followed at Baseline, 6 months, 12 months and 24 months

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Foundation Fighting Blindness: lead
• United States Department of Defense: collaborator

Study Sites (9)

Greater Baltimore Medical Center

Baltimore, Maryland, 21204, United States

Location

Wilmer Eye Institute, Johns Hopkins University

Baltimore, Maryland, 21287, United States

Location

Cole Eye Institute, Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

Scheie Eye Institute, University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

Retina Foundation of the Southwest

Dallas, Texas, 75231, United States

Location

Moran Eye Center, University of Utah

Salt Lake City, Utah, 84132, United States

Location

Institut de la Vision

Paris, 75012, France

Location

Center for Ophthalmic Research, University of Teubingen

Tübingen, 72076, Germany

Location

Moorfields Eye Hospital

London, EC1V 2PD, United Kingdom

Location

Related Publications (9)

• Schonbach EM, Ibrahim MA, Strauss RW, Birch DG, Cideciyan AV, Hahn GA, Ho A, Kong X, Nasser F, Sunness JS, Zrenner E, Sadda SR, West SK, Scholl HPN; Progression of Stargardt Disease Study Group. Fixation Location and Stability Using the MP-1 Microperimeter in Stargardt Disease: ProgStar Report No. 3. Ophthalmol Retina. 2017 Jan-Feb;1(1):68-76. doi: 10.1016/j.oret.2016.08.009. Epub 2016 Oct 31.

  PMID: 31047397 BACKGROUND

• Kong X, West SK, Strauss RW, Munoz B, Cideciyan AV, Michaelides M, Ho A, Ahmed M, Schonbach EM, Cheetham JK, Ervin AM, Scholl HPN; ProgStar study group. Progression of Visual Acuity and Fundus Autofluorescence in Recent-Onset Stargardt Disease: ProgStar Study Report #4. Ophthalmol Retina. 2017 Nov-Dec;1(6):514-523. doi: 10.1016/j.oret.2017.02.008. Epub 2017 Apr 28.

  PMID: 31047445 BACKGROUND

• Strauss RW, Munoz B, Ho A, Jha A, Michaelides M, Mohand-Said S, Cideciyan AV, Birch D, Hariri AH, Nittala MG, Sadda S, Scholl HPN; ProgStar Study Group. Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5. JAMA Ophthalmol. 2017 Jul 1;135(7):687-695. doi: 10.1001/jamaophthalmol.2017.1121.

  PMID: 28542697 BACKGROUND

• Schonbach EM, Wolfson Y, Strauss RW, Ibrahim MA, Kong X, Munoz B, Birch DG, Cideciyan AV, Hahn GA, Nittala M, Sunness JS, Sadda SR, West SK, Scholl HPN; ProgStar Study Group. Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7. JAMA Ophthalmol. 2017 Jul 1;135(7):696-703. doi: 10.1001/jamaophthalmol.2017.1162.

  PMID: 28542693 BACKGROUND

• Strauss RW, Ho A, Munoz B, Cideciyan AV, Sahel JA, Sunness JS, Birch DG, Bernstein PS, Michaelides M, Traboulsi EI, Zrenner E, Sadda S, Ervin AM, West S, Scholl HP; Progression of Stargardt Disease Study Group. The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1. Ophthalmology. 2016 Apr;123(4):817-28. doi: 10.1016/j.ophtha.2015.12.009. Epub 2016 Jan 16.

  PMID: 26786511 RESULT

• Kong X, Strauss RW, Michaelides M, Cideciyan AV, Sahel JA, Munoz B, West S, Scholl HP; ProgStar Study Group. Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2). Ophthalmology. 2016 Sep;123(9):1887-97. doi: 10.1016/j.ophtha.2016.05.027. Epub 2016 Jul 2.

  PMID: 27378015 RESULT

• Kong X, Strauss RW, Cideciyan AV, Michaelides M, Sahel JA, Munoz B, Ahmed M, Ervin AM, West SK, Cheetham JK, Scholl HPN; ProgStar Study Group. Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: ProgStar Report Number 6. Ophthalmology. 2017 Nov;124(11):1640-1651. doi: 10.1016/j.ophtha.2017.04.026. Epub 2017 May 23.

  PMID: 28549516 RESULT

• Strauss RW, Munoz B, Ho A, Jha A, Michaelides M, Cideciyan AV, Audo I, Birch DG, Hariri AH, Nittala MG, Sadda S, West S, Scholl HPN; ProgStar Study Group. Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9). JAMA Ophthalmol. 2017 Nov 1;135(11):1232-1241. doi: 10.1001/jamaophthalmol.2017.4152.

  PMID: 29049437 RESULT

• Kong X, Fujinami K, Strauss RW, Munoz B, West SK, Cideciyan AV, Michaelides M, Ahmed M, Ervin AM, Schonbach E, Cheetham JK, Scholl HPN; ProgStar Study Group. Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10. JAMA Ophthalmol. 2018 Aug 1;136(8):920-928. doi: 10.1001/jamaophthalmol.2018.2198.

  PMID: 29902293 RESULT

Related Links

• Study Website
• Study Sponsor website

MeSH Terms

Conditions

Stargardt Disease; Retinal Degeneration

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Macular Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Results Point of Contact

• Title: Chief Scientific Officer
• Organization: Foundation Fighting Blindness

info@FightBlindness.org

410-423-0600

Study Officials

• Hendrik Scholl, MD

  Wilmer Eye Institute at the Johns Hopkins University

  STUDY CHAIR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 31, 2013
• First Posted: November 7, 2013
• Study Start: August 1, 2013
• Primary Completion: February 1, 2017
• Study Completion: February 1, 2017
• Last Updated: November 1, 2019
• Results First Posted: November 1, 2019

Record last verified: 2019-07

Locations

DE (1); US (6); FR (1); GB (1)