Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt Disease

NCT ID: NCT01676766

Last Updated: 2016-11-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

2 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-09-30

Study Completion Date

2016-10-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Stargardt Disease

Keywords

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Stargardt Disease Macular degeneration Retinal dystrophy

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

5 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Midwest Eye Banks

OTHER

Sponsor Role collaborator

University of Michigan

OTHER

Sponsor Role lead

Responsible Party

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K. Thiran Jayasundera

Assistant Professor, Retina and Uveitis

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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K. Thiran Jayasundera, MD

Role: PRINCIPAL_INVESTIGATOR

University of Michigan Kellogg Eye Center

Locations

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Kellogg Eye Center

Ann Arbor, Michigan, United States

Site Status

Countries

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United States

References

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Elner SG, Elner VM, Field MG, Park S, Heckenlively JR, Petty HR. Retinal flavoprotein autofluorescence as a measure of retinal health. Trans Am Ophthalmol Soc. 2008;106:215-22; discussion 222-4.

Reference Type BACKGROUND
PMID: 19277237 (View on PubMed)

Field MG, Elner VM, Park S, Hackel R, Heckenlively JR, Elner SG, Petty HR. Detection of retinal metabolic stress resulting from central serous retinopathy. Retina. 2009 Sep;29(8):1162-6. doi: 10.1097/IAE.0b013e3181a3b923.

Reference Type BACKGROUND
PMID: 19491721 (View on PubMed)

Field MG, Elner VM, Puro DG, Feuerman JM, Musch DC, Pop-Busui R, Hackel R, Heckenlively JR, Petty HR. Rapid, noninvasive detection of diabetes-induced retinal metabolic stress. Arch Ophthalmol. 2008 Jul;126(7):934-8. doi: 10.1001/archopht.126.7.934.

Reference Type BACKGROUND
PMID: 18625939 (View on PubMed)

Chen B, Tosha C, Gorin MB, Nusinowitz S. Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease. Exp Eye Res. 2010 Aug;91(2):143-52. doi: 10.1016/j.exer.2010.03.021. Epub 2010 Apr 14.

Reference Type BACKGROUND
PMID: 20398653 (View on PubMed)

Other Identifiers

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HUM 64388

Identifier Type: -

Identifier Source: org_study_id