Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
Launched by MCGILL UNIVERSITY HEALTH CENTRE/RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE · Jan 3, 2024
Trial Information
Current as of September 09, 2025
Recruiting
Keywords
ClinConnect Summary
This clinical trial is studying the eye condition known as retinal degeneration in people with Zellweger Spectrum Disorder (ZSD). The goal is to better understand how this eye problem develops over time, identify the best tests to monitor vision changes, and provide information about the potential for vision loss in patients with ZSD. By gathering this information, researchers hope to improve care and support for individuals with this condition.
To participate, individuals must have a confirmed diagnosis of ZSD with specific genetic changes and show signs of eye involvement. Each year, participants will visit the study site to complete a vision questionnaire, undergo physical exams, take blood tests, and participate in various vision assessments. The study will cover travel and accommodation costs for participants. This is a great opportunity for those eligible to contribute to valuable research while receiving support for their travel needs.
Gender
ALL
Eligibility criteria
- Inclusion Criteria:
- • confirmed ZSD with deleterious variants in PEX genes identified
- • confirmed or expected retinal involvement
- Exclusion Criteria:
- • unable to perform a minimum of one vision test
- • severe ZSD disease
About Mcgill University Health Centre/Research Institute Of The Mcgill University Health Centre
The McGill University Health Centre (MUHC) and the Research Institute of the McGill University Health Centre (RI-MUHC) are leading institutions in clinical research and healthcare innovation. With a commitment to advancing medical knowledge and improving patient outcomes, the MUHC integrates cutting-edge research with high-quality patient care. The RI-MUHC fosters a collaborative environment where multidisciplinary teams engage in transformative research across various fields, including oncology, neurology, and cardiovascular health. By leveraging state-of-the-art facilities and a robust network of clinical expertise, both entities strive to translate scientific discoveries into effective treatments, ultimately enhancing the quality of life for patients locally and globally.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Montreal, Quebec, Canada
Rochester, New York, United States
Patients applied
Trial Officials
Nancy E Braverman, MD, MS
Principal Investigator
McGill University Health Centre/Research Institute of the McGill University Health Centre
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported