The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy

NCT02410122 | Completed

• 1 other identifier: NA_00092688
• Study Type: observational
• Target: 15
• Locations: 3 countries
• Sites: 5

Brief Summary

While a fair amount of clinical data on Stargardt disease type 1 (STGD1) have been published, very little is known about Stargardt disease type 4 (STGD4). The ProgStar 04 study is an important opportunity to leverage the infrastructure, clinical trials sites, methods, and central reading center of the ProgStar program to investigate the progression of STGD4 and will help to establish patient cohorts worldwide for future clinical trials.

Conditions

Stargardt Disease

Outcome Measures

Primary Outcomes (1)

• Growth of atrophic lesions as measured by fundus autofluorescence (FAF) imaging

  24 months

Secondary Outcomes (9)

• Growth of atrophic lesions as measured by fundus autofluorescence (FAF) imaging

  12 months

• Rate of retinal thinning and photoreceptor loss as measured by spectral domain optical coherence tomography (sd-OCT)

  12 months

• Rate of retinal thinning and photoreceptor loss as measured by spectral domain optical coherence tomography (sd-OCT)

  24 months

• Loss of retinal sensitivity as measured by microperimetry

  12 months

• Loss of retinal sensitivity as measured by microperimetry

  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 shall enroll participants with PROM1 mutations and associated STGD4 phenotype at up to 10 clinical sites.

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. The lesion size should not exceed the area to be tracked in the OCT mode (20x20 degrees).
• Have at least one pathogenic mutation confirmed in the PROM1 gene and a Stargardt phenotype.
• 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.
• 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 make adherence to the examination interfere with the patient attending their regular follow-up visits schedule of once every 6 months for up to 24 months difficult or unlikely, 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.
• Patient is known to have one or more pathogenic mutation(s) in the ABCA4, RDS, or ELOVL4 genes.

Sponsors & Collaborators

• Johns Hopkins University: lead
• The Shulsky Foundation: collaborator

Study Sites (5)

Wilmer Eye Institute

Baltimore, Maryland, 21287, United States

Location

Retina Foundation of the Southwest

Dallas, Texas, 75231, United States

Location

Universitäts-Augenklinik Bonn

Bonn, 53127, Germany

Location

Center for Opthalmic Research, University of Tuebingen

Tübingen, 72076, Germany

Location

Moorfields Eye Hospital

London, EC1V 2PD, United Kingdom

Location

Related Links

• Click here for more information about this study: the Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar)

MeSH Terms

Conditions

Stargardt Disease

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 5, 2015
• First Posted: April 7, 2015
• Study Start: December 1, 2014
• Primary Completion: March 1, 2018
• Study Completion: March 1, 2018
• Last Updated: August 3, 2018

Record last verified: 2018-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (2); DE (2); GB (1)