RECRUITING

Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder

Quick Facts

Study Start:2023-12-18
Study Completion:2029-01-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06190626

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * confirmed ZSD with deleterious variants in PEX genes identified
  2. * confirmed or expected retinal involvement
  1. * unable to perform a minimum of one vision test
  2. * severe ZSD disease

Contacts and Locations

Study Contact

Nancy E Braverman, MD, MS
CONTACT
514-934-1934
nancy.braverman@mcgill.ca
Frederique Arnaud, BScN
CONTACT
514-934-1934
frederique.arnaud@muhc.mcgill.ca

Principal Investigator

Nancy E Braverman, MD, MS
PRINCIPAL_INVESTIGATOR
McGill University Health Centre/Research Institute of the McGill University Health Centre

Study Locations (Sites)

University of Rochester Medical Center/Flaum Eye Institute
Rochester, New York, 14642
United States

Collaborators and Investigators

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

  • Nancy E Braverman, MD, MS, PRINCIPAL_INVESTIGATOR, McGill University Health Centre/Research Institute of the McGill University Health Centre

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2023-12-18
Study Completion Date2029-01-01

Study Record Updates

Study Start Date2023-12-18
Study Completion Date2029-01-01

Terms related to this study

Keywords Provided by Researchers

  • ZSD
  • PEX gene mutation
  • Retinopathy

Additional Relevant MeSH Terms

  • Zellweger Spectrum Disorder