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Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt Disease

This study has been terminated.
(Flavoprotein fluorescence machine for the trial is not working so the trial was terminated. No study data was collected prior to termination.)
Midwest Eye Banks
Information provided by (Responsible Party):
K. Thiran Jayasundera, University of Michigan Identifier:
First received: August 23, 2012
Last updated: November 4, 2016
Last verified: November 2016

The purpose of this study is to utilize flavoprotein fluorescence and fundus autofluorescence to detect progression of Stargardt macular dystrophy in a pediatric population over the course of a year with the hope of aiding future therapeutic risk-benefit decisions and assessment of outcomes.

Stargardt macular dystrophy is the most common of the juvenile-onset macular dystrophies. Despite determination of ABCA4 as the causative gene, clinicians have been challenged by variability in clinical phenotypes. Given the recent initiation of clinical trials to assess novel treatments (e.g. gene therapy), there is a need to identify patients with the worst prognosis.

The investigators have observed that pediatric patients lose central visual function faster than their adult counterparts. Thus, they present an ideal cohort with which to determine the utility of novel modalities to detect early change. These include flavoprotein fluorescence, a new imaging technique for detecting mitochondrial dysfunction developed at the University of Michigan. Fundus autofluorescence (FAF) is another commonly utilized technique of evaluating hereditary eye diseases. The investigators have developed a novel means of quantifying FAF signatures that will allow documentation of severity as well as detection of progression.

Stargardt Disease

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin Fluorescence to Detect Progression in Stargardt Disease

Resource links provided by NLM:

Further study details as provided by University of Michigan:

Primary Outcome Measures:
  • Change from baseline in pixel intensity quantification of fundus autofluorescence at 6 months [ Time Frame: 0 months, 6 months ]
  • Change from baseline in pixel intensity quantification of flavoprotein autofluorescence at 6 months [ Time Frame: 0 months, 6 months ]

Secondary Outcome Measures:
  • Change from baseline in pixel intensity quantification of fundus autofluorescence at 12 months [ Time Frame: 0 months, 12 months ]
  • Change from baseline in pixel intensity quantification of flavoprotein autofluorescence at 12 months [ Time Frame: 0 months, 12 months ]

Enrollment: 2
Study Start Date: September 2012
Study Completion Date: October 2016
Primary Completion Date: October 2016 (Final data collection date for primary outcome measure)
Detailed Description:

This study will evaluate whether more sophisticated testing and analytic methodologies, including fundus autofluorescence (FAF) and a novel non-invasive method to measure retinal flavoprotein fluorescence (FPF) may be used to better predict Stargardt macular dystrophy progression and monitor treatment effects than conventional modalities such visual acuity and visual field. This method involves the use of novel statistical methods to assess the heterogeneity of fundus autofluorescence images.

Participants will complete 3 visits to the University of Michigan Kellogg Eye Center. Each visit will take approximately 2.5 hours. The initial visit will include a routine clinical eye examination, measurement of best-corrected visual acuity, indirect ophthalmoscopy, microperimetry, frequency-domain optical coherence tomography, Goldmann visual fields, fundus flavoprotein fluorescence (FPF) imaging, and fundus autofluorescence (FAF) and fundus photography. Patients will return for evaluation at 6 and 12 months after their initial visit to repeat testing and imaging.


Ages Eligible for Study:   5 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
We will perform an observational clinical study of 25 pediatric patients with Stargardt Disease recruited from the retinal degeneration clinic at the University of Michigan who have two mutations in ABCA4.

Inclusion Criteria:

  • Between the age of 5 and 18 years old
  • Clinical diagnosis of Stargardt Disease
  • Molecular confirmation of Stargardt Disease (with 2 identified mutations in ABCA4)
  • Visual acuity better than 20/100

Exclusion Criteria:

  • Limited central vision, defined as visual acuity worse than 20/100
  • A diagnosis of any other retinal degenerative disease
  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 identifier: NCT01676766

United States, Michigan
Kellogg Eye Center
Ann Arbor, Michigan, United States, 48105
Sponsors and Collaborators
University of Michigan
Midwest Eye Banks
Principal Investigator: K. Thiran Jayasundera, MD University of Michigan Kellogg Eye Center