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Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4

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ClinicalTrials.gov Identifier: NCT04591483
Recruitment Status : Recruiting
First Posted : October 19, 2020
Last Update Posted : January 20, 2021
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )

Study Description
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Brief Summary:

Background:

STDG3 is an inherited eye disease. Currently there is no treatment for STDG3. Past studies of STDG3 have largely looked at members of large families at a single time point. Researchers want to learn more about the disease at an individual level.

Objective:

To understand the natural history of changes in the retina that occur in people with STDG3.

Eligibility:

People ages 10 and older with STDG3 due to a variant in the ELOVL4 gene.

Design:

Participants will have 5 visits. First they will have a screening visit. Then they will have a visit 6 months later. Then they will have a visit 1, 2, and 3 years after the first visit. Visits will last 4 to 8 hours.

Visits will include the following:

Medical history and physical exam.

Complete eye exam. Participants' eye pressure and ability to see letters on a vision chart will be tested. Their pupils will be dilated with eye drops. Pictures will be taken of the retina and the inside of the eye.

Questions about participants' family history, especially the presence of eye disease.

Visual field test. Participants will be seated in front of a large dome and asked to press a button when they see a light within the dome.

Electroretinogram. Participants will sit in the dark with their eyes patched for 30 minutes. Then they will wear special contact lenses and watch flashing lights.

Optical coherence tomography. Cross-sectional pictures will be taken of participants' retinas.

Fundus autofluorescence. Blue light will be shone into participants eyes to assess the health of the retina....


Condition or disease
Stargardt-Like Macular Dystrophy

Detailed Description:

Title: An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4

Study Description: Potential therapeutics for Stargardt-like macular dystrophy (STDG3) have been proposed. Cross-sectional studies of large families suggest progressive macular atrophy in STDG3 but there is a paucity of longitudinal data for these patients. The overall goal is to establish a natural history study of STDG3.

Objectives: The primary objective is to assess the longitudinal changes in retinal structure in STDG3 patients.

The secondary objective is to assess the longitudinal changes in retinal function in STDG3 patients.

An exploratory objective is to assess the longitudinal changes in functional vision and the participant s perceived effect on activities of daily living (e.g., mobility).

Endpoints: The primary endpoints are: A) the growth rate of the square root area of loss of the inner segment/outer segment band (EZband) obtained from spectral-domain optical coherence tomography (SD-OCT) and B) the rate of atrophy enlargement obtained from fundus autofluorescence

The secondary endpoints are: A) the change in BCVA total letters read from baseline to Year 3 and B) the rate of loss of retinal sensitivity measured with perimetry

Study Population: Up to 25 patients with Stargardt-like macular dystrophy 3 who are >= 10 years of age.

Description of Sites/Facilities Enrolling Participants: Patients will be seen in the Ophthalmic Genetics Clinic at the National Eye Institute within the NIH Clinical Center in Bethesda.

Study Duration: 84 months (7 years).

Participant Duration: 36 months (3 years).

Study Design
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Study Type : Observational
Estimated Enrollment : 25 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
Estimated Study Start Date : January 25, 2021
Estimated Primary Completion Date : July 16, 2025
Estimated Study Completion Date : July 16, 2025

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
Affected
Patients with Stargardt-like macular dystrophy3 who are >= 10 years of age.


Outcome Measures
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Primary Outcome Measures :
  1. Growth rate in square root area of loss of the inner segment/outer segment band (EZband) [ Time Frame: Day 1, 182, 364, 728, 1,092 ]
    The growth rate of the square root area of loss of the inner segment/outer segment band (EZband) obtained from SD-OCT.

  2. Growth rate of square root area of atrophy measured from short-wavelength autofluorescence [ Time Frame: Day 1, 182, 364, 728, 1,092 ]
    The rate of atrophy enlargement obtained from fundus autofluorescence.


Secondary Outcome Measures :
  1. The change in BCVA total letters read from baseline to Year 3 [ Time Frame: Day 1, 182, 364, 728, 1,092 ]
    The change in BCVA total letters read from baseline to Year 3.

  2. The rate of loss of retinal sensitivity measured with perimetry [ Time Frame: Day 1, 182, 364, 728, 1,092 ]
    The rate of loss of retinal sensitivity measured with perimetry.


Eligibility Criteria
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Information from the National Library of Medicine

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, Learn About Clinical Studies.


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Ages Eligible for Study:   10 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
25 patients with Stargardt-like macular dystrophy 3 who are >= 10 years of age.
Criteria
  • INCLUSION CRITERIA:

To be eligible, the following inclusion criteria must be met, where applicable.

  1. Stated willingness to comply with all study procedures and availability for the duration of the study.
  2. Participant must be at least ten years of age.
  3. Ability to perform required functional testing and ophthalmic imaging.
  4. A mutation in ELOVL4 with a typical clinical presentation of Stargardt-like macular dystrophy.
  5. Participant (or legal guardian) must understand and sign the protocol s informed consent document.

EXCLUSION CRITERIA:

A participant is not eligible if any of the following exclusion criteria are present.

  1. Two or more definitive mutations in ABCA4 and/or one mutation in RDS/peripherin or PROM1.
  2. Systemic medical contraindications that are rarely associated with ELOVL4 (e.g., Spinocerebellar Ataxia-34).
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04591483


Contacts
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Contact: Brett G Jeffrey, Ph.D. (301) 402-2391 jeffreybg@mail.nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
National Eye Institute (NEI)
Investigators
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Principal Investigator: Brett G Jeffrey, Ph.D. National Eye Institute (NEI)
More Information
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Additional Information:

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Responsible Party: National Eye Institute (NEI)
ClinicalTrials.gov Identifier: NCT04591483    
Other Study ID Numbers: 10000108
000108-EI
First Posted: October 19, 2020    Key Record Dates
Last Update Posted: January 20, 2021
Last Verified: October 13, 2020
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
ABCA4
Oral Metformin
Additional relevant MeSH terms:
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Macular Degeneration
Retinal Degeneration
Retinal Diseases
Eye Diseases