Recruiting

Observational Study

Sponsor:

McGill University Health Centre/Research Institute of the McGill University Health Centre

Code:

NCT06190626

Conditions

Zellweger Spectrum Disorder

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Zellweger Spectrum Disorder

Study ID

NCT06190626

Start date

Dec 18, 2023

Status verified date

Jan, 2026

Completion date

Jan 1, 2029

Anticipated

Primary completion date

Jan 1, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

30 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Number of participants with disease progression [ Time Frame: 5 years ]
  • Number of participants with common patterns of retinal degeneration observed [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Nancy E Braverman, MD, MS

514-934-1934nancy.braverman@mcgill.ca

Frederique Arnaud, BScN

514-934-1934frederique.arnaud@muhc.mcgill.ca

Locations

University of Rochester Medical Center/Flaum Eye Institute

Recruiting

Rochester, New York, United States, 14642

Contacts

Alex Levin, MD

alex_levin@urmc.rochester.edu

Principal Investigator:

Alex Levin

Eye Institute of Alberta

Recruiting

Edmonton, Alberta, Canada, T5H 3V9

Contacts

Constantin Mouzaaber, MSc

587-590-5041muzaber@ualberta.ca

Principal Investigator:

Matthew Benson, MD, MSc

Research Institute-McGill University Health Center

Recruiting

Montreal, Quebec, Canada, H4A 3J1

Contacts

Frederique Arnaud, BScN

frederique.arnaud@muhc.mcgill.ca

Principal Investigator:

Nancy E Braverman, MD, MS

More Information

Sponsor

McGill University Health Centre/Research Institute of the McGill University Health Centre

Last update posted

Jan 21, 2026

Last verified

Jan, 2026

Keywords

  • ZSD
  • PEX gene mutation
  • Retinopathy

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by McGill University Health Centre/Research Institute of the McGill University Health Centre on 2026-01-21.