Observational study on retinal degeneration in Zellweger Spectrum Disorder
Official title: Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
Run by McGill University Health Centre/Research Institute of the McGill University Health Centre · NCT06190626 · Data updated 2026-11-12
This study is trying to understand how vision loss happens in people with Zellweger Spectrum Disorder by checking their eyesight and health every year.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 30 (estimated) |
| Sponsor | McGill University Health Centre/Research Institute of the McGill University Health Centre Academic / other |
| Locations | 3 sites (Rochester, New York and 2 other locations) |
| Status | Recruiting |
| Started | December 18, 2023 |
| Main results expected | January 1, 2029 |
| Study ends | January 1, 2029 |
| Registry record updated | January 21, 2026 |
| Trial ID | NCT06190626 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals with confirmed Zellweger Spectrum Disorder and retinal involvement.
✕Probably not a fit
Patients who are unable to perform at least one vision test or have severe ZSD may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to define the progression of retinal degeneration in patients with Zellweger Spectrum Disorder (ZSD). Participants will undergo yearly evaluations that include functional vision questionnaires, physical assessments, blood tests, and various vision tests to monitor their condition. The study seeks to identify the best methods for tracking vision loss and to generate prognostic information regarding the impact of ZSD on vision. Financial support for travel and accommodation will be provided for participants.
Why it matters
Potential benefit: If successful, this study could lead to improved monitoring and understanding of vision loss in patients with Zellweger Spectrum Disorder.
How similar studies have gone: While this study focuses on a specific condition, similar observational studies have successfully defined disease progression in other genetic disorders.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
-
University of Rochester Medical Center/Flaum Eye Institute
Rochester, New York, United States Recruiting -
Eye Institute of Alberta
Edmonton, Alberta, Canada Recruiting -
Research Institute-McGill University Health Center
Montreal, Quebec, Canada Recruiting
Study contacts
- Principal investigator: Nancy E Braverman, MD, MS — McGill University Health Centre/Research Institute of the McGill University Health Centre
- Study coordinator: Nancy E Braverman, MD, MS
- Email: nancy.braverman@mcgill.ca
- Phone: 514-934-1934
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Observational study of patients with peroxisome biogenesis disorders
This study is looking to learn more about Peroxisome Biogenesis Disorders by collecting health information from patients to help improve future treatments.
-
Semaglutide on body composition in adults with type 1 diabetes and overweight/obesity
This study tests whether weekly semaglutide changes body composition in adults with type 1 diabetes who are overweight or obese, compared with a placebo over 24 weeks.
-
Adjuvant Hypofractionated Radiotherapy for Endometrial Cancer: Safety, Efficacy, and Quality of Life
This study tests whether a shorter course of pelvic radiotherapy is safe and effective for women with non-metastatic endometrial cancer, and how it affects their quality of life.
-
Can personality traits influence eye side effects from glaucoma meds?
This study tests whether personality traits are linked to how often or how severely people experience eye side effects from glaucoma medications.
-
Wireless MicroPremVitals Button Sensor for the NICU
This study tests a tiny wireless sensor system to monitor heart rate, oxygen, and temperature in extremely preterm babies in the NICU to see if it works safely without wires.
-
Wireless NIRS Sensor Use in the NICU for Monitoring on Neonates
A wireless NIRS sensor is tested on infants in the NICU to see how well it stays on and how it notes brain signals when used alongside standard wired sensors.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.