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

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborators:
Foundation Fighting Blindness
Information provided by (Responsible Party):
Foundation Fighting Blindness Clinical Research Institute
ClinicalTrials.gov Identifier:
NCT01977846
First received: October 31, 2013
Last updated: March 4, 2015
Last verified: March 2015
  Purpose

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.


Condition
Stargardt Disease

Study Type: Observational
Study Design: Observational Model: Case-Only
Official Title: 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

Resource links provided by NLM:


Further study details as provided by Foundation Fighting Blindness Clinical Research Institute:

Primary Outcome Measures:
  • To assess the yearly rate of progression of STGD using the growth of atrophic lesions as measured by fundus autofluorescence (FAF) imaging. [ Time Frame: 4-7 years ] [ Designated as safety issue: No ]
    From 2 to 5 years of retrospective fundus autofluorescence imaging linked with 2 years of standardized prospective fundus autofluorescence imaging will be collected.


Secondary Outcome Measures:
  • To assess the yearly rate of progression of STGD using spectral-domain optical coherence tomography (sd-OCT) to measure the rates of retinal thinning and the loss of photoreceptors [ Time Frame: 4-7 years ] [ Designated as safety issue: No ]
    From 2 to 5 years of retrospective spectral-domain optical coherence tomography imaging linked with 2 years of standardized prospective spectral-domain optical coherence tomography imaging will be collected

  • To assess the yearly rate of loss of retinal sensitivity as measured by microperimetry. [ Time Frame: 4 to 7 years ] [ Designated as safety issue: No ]
    Up to 2 to 5 years of retrospective microperimetry imaging linked with 2 years of standardized prospective microperimetry imaging will be collected.

  • To assess the yearly rate of visual acuity changes as measured by best corrected visual acuity (BCVA) using the Early Treatment Diabetic Retinopathy Study (ETDRS) protocol [ Time Frame: 4-7 years ] [ Designated as safety issue: No ]
    From 2 to 5 years of retrospective visual acuity measurements will be linked with 2 years of standardized prospective visual acuity measurements will be collected

  • To correlate the presence and progression of morphological abnormalities in FAF and sd-OCT images with visual function as measured by microperimetry and visual acuity. [ Time Frame: 4-7 years ] [ Designated as safety issue: No ]
    From 2 to 5 years of retrospective spectral-domain optical coherence tomography and fundus autofluorescence imaging linked with 2 years of standardized prospective spectral-domain optical coherence tomography and fundus autofluorescence imaging will be analyzed for correlation

  • To perform exploratory analysis of factors associated with STGD progression, such as participant's use of vitamin A supplementation, and mutations in the ABCA4 gene. [ Time Frame: 4-7 years ] [ Designated as safety issue: No ]
    From 2 to 5 years of retrospectively collected information linked with 2 years of standardized prospectively collected information will be collected and assessed.

  • To assess the yearly rate of loss of retinal sensitivity as measured by scotopic microperimetry. [ Time Frame: 2 years ] [ Designated as safety issue: No ]
    Up to 2 years of standardized prospective microperimetry imaging, gathered under scotopic conditions, will be collected in a subset of prospective patients (SMART Study).


Estimated Enrollment: 200
Study Start Date: August 2013
Estimated Study Completion Date: January 2017
Estimated Primary Completion Date: January 2017 (Final data collection date for primary outcome measure)
  Eligibility

Ages Eligible for Study:   6 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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.

Criteria

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 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.
  • 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01977846

Locations
United States, Maryland
Greater Baltimore Medical Center
Baltimore, Maryland, United States, 21204
Wilmer Eye Institute, Johns Hopkins University
Baltimore, Maryland, United States, 21287
United States, Ohio
Cole Eye Institute, Cleveland Clinic
Cleveland, Ohio, United States, 44195
United States, Pennsylvania
Scheie Eye Institute, University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104
United States, Texas
Retina Foundation of the Southwest
Dallas, Texas, United States, 75231
United States, Utah
Moran Eye Center, University of Utah
Salt Lake City, Utah, United States, 84132
France
Institut de la Vision
Paris, France, 75012
Germany
Center for Ophthalmic Research, University of Teubingen
Teubingen, Germany, 72076
United Kingdom
Moorfields Eye Hospital
London, United Kingdom, EC1V 2PD
Sponsors and Collaborators
Foundation Fighting Blindness Clinical Research Institute
Foundation Fighting Blindness
Investigators
Study Chair: Hendrik Scholl, MD Wilmer Eye Institute at the Johns Hopkins University
  More Information

Additional Information:
No publications provided

Responsible Party: Foundation Fighting Blindness Clinical Research Institute
ClinicalTrials.gov Identifier: NCT01977846     History of Changes
Other Study ID Numbers: FFBCRI-PROGSTAR-01/02
Study First Received: October 31, 2013
Last Updated: March 4, 2015
Health Authority: United States: Food and Drug Administration
Germany: Federal Institute for Drugs and Medical Devices
France: Institutional Ethical Committee
United Kingdom: Research Ethics Committee

Keywords provided by Foundation Fighting Blindness Clinical Research Institute:
genetic testing
ABCA4
Stargardt
retina
retinal degeneration

Additional relevant MeSH terms:
Macular Degeneration
Eye Diseases
Retinal Degeneration
Retinal Diseases

ClinicalTrials.gov processed this record on August 27, 2015