Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder

Status: Recruiting
Location: See all (3) locations...
Study Type: Observational
SUMMARY

The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort. The objective of this study is to gather information so the investigators can: 1. define the course of the retinal degeneration in a ZSD patient cohort with retinal degeneration 2. define what tests best monitor the progression of the retinal degeneration 3. generate prognostic information about vision loss in ZSD. At each yearly visit, the participants will answer a functional vision questionnaire, have a physical evaluation, blood test, and participate in a variety of vision tests. The investigators will also collect pertinent medical history. Participants will travel to study site. The study will provide financial support for board and travel.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• confirmed ZSD with deleterious variants in PEX genes identified

• confirmed or expected retinal involvement

Locations
United States
New York
University of Rochester Medical Center/Flaum Eye Institute
RECRUITING
Rochester
Other Locations
Canada
Eye Institute of Alberta
RECRUITING
Edmonton
Research Institute-McGill University Health Center
RECRUITING
Montreal
Contact Information
Primary
Nancy E Braverman, MD, MS
nancy.braverman@mcgill.ca
514-934-1934
Backup
Frederique Arnaud, BScN
frederique.arnaud@muhc.mcgill.ca
514-934-1934
Time Frame
Start Date: 2023-12-18
Estimated Completion Date: 2029-01-01
Participants
Target number of participants: 30
Sponsors
Collaborators: Canadian Institutes of Health Research (CIHR)
Leads: McGill University Health Centre/Research Institute of the McGill University Health Centre

This content was sourced from clinicaltrials.gov

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