Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt Disease

NCT01676766 | Terminated

• 1 other identifier: HUM 64388
• Study Type: observational
• Target: 2
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Stargardt Disease

Keywords

Stargardt Disease; Macular degeneration; Retinal dystrophy

Outcome Measures

Primary Outcomes (2)

• Change from baseline in pixel intensity quantification of fundus autofluorescence at 6 months

  0 months, 6 months

• Change from baseline in pixel intensity quantification of flavoprotein autofluorescence at 6 months

  0 months, 6 months

Secondary Outcomes (2)

• Change from baseline in pixel intensity quantification of fundus autofluorescence at 12 months

  0 months, 12 months

• Change from baseline in pixel intensity quantification of flavoprotein autofluorescence at 12 months

  0 months, 12 months

Eligibility Criteria

• Age: 5 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• University of Michigan: lead
• Midwest Eye Banks: collaborator

Study Sites (1)

Kellogg Eye Center

Ann Arbor, Michigan, 48105, United States

Location

Related Publications (4)

• 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.

  PMID: 19277237 BACKGROUND

• 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.

  PMID: 19491721 BACKGROUND

• 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.

  PMID: 18625939 BACKGROUND

• 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.

  PMID: 20398653 BACKGROUND

MeSH Terms

Conditions

Stargardt Disease; Macular Degeneration; Retinal Dystrophies

Condition Hierarchy (Ancestors)

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

Study Officials

• K. Thiran Jayasundera, MD

  University of Michigan Kellogg Eye Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor, Retina and Uveitis

Study Record Dates

• First Submitted: August 23, 2012
• First Posted: August 31, 2012
• Study Start: September 1, 2012
• Primary Completion: October 1, 2016
• Study Completion: October 1, 2016
• Last Updated: November 8, 2016

Record last verified: 2016-11

Locations

US (1)