Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder (ZSDvision)

January 3, 2024 updated by: Nancy Braverman, McGill University Health Centre/Research Institute of the McGill University Health Centre

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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Participants/guardians will have a 1-hour virtual interview before the first visit to review the tests and determine which tests the participant is able to perform.

Below is a list of the vision tests used for this study:

Prior to each visit, the participant will complete the PedEyeQ or VFQ-25 questionnaire about functional vision.

At each clinic visit :

  • Refraction and glasses test: this is a general vision test, as commonly conducted by an optometrist, before and after pupil dilation
  • Best corrected visual acuity: the participant's vision will be tested using cards or a chart.
  • Contrast sensitivity: the participant's ability to detect contrast will be tested using a chart.
  • Visual field: the participant's field of vision will be tested by asking them to indicate when they see a stimulus.
  • Reading test: the participant's ability to see written text will be tested using the International Reading Speed Test
  • Color vision test: the participant's ability to see color will be tested using cards
  • Eye exam: the participant's eyes will be examined with a lamp
  • Pupil dilation: to allow the completion of some tests, the participant's pupils will be dilated using medicated eye drops
  • Microperimetry: the participant's macula (central retina) will be visualized.
  • Fundus photography: the participant's fundus (central retina) will be photographed in light and dark conditions
  • Full field stimulus threshold test: the participant's ability to perceive light in different parts of their visual field will be tested
  • Optical coherence tomography (OCT): detailed images of the participant's retina will be taken
  • Fundus autofluorescence: the participant's retinal health will be assessed by imaging the natural fluorescent properties of their retinal pigment epithelium
  • Chromatic pupillometry: the function of different cells in the participant's retina will be determined by measuring their response to light
  • Multi-luminance mobility test (MLMT): the participant will walk through an obstacle course at varying light levels to test their functional vision in different light conditions.
  • Blood collection: a blood sample will be collected and banked to measure peroxisome functions.

Study Type

Observational

Enrollment (Estimated)

30

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Canada
    • Quebec
      • Montreal, Quebec, Canada, H4A 3J1

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.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

any age, with appropriate diagnosis

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of participants with disease progression
Time Frame: 5 years
Using various tests of vision measured annually, a description of disease progression will be defined in each participant.
5 years
Number of participants with common patterns of retinal degeneration observed
Time Frame: 5 years
Vision test results from participants will be reviewed together to describe common patterns of retinal degeneration observed.
5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Rate of progression of retinal degeneration
Time Frame: 5 years
Statistical analysis using the data from Outcome 1, will be used to generate rate of progression per year over 5 years in each individual.
5 years
Correlation of rate retinal degeneration to age and overall ZSD disease severity
Time Frame: 5 years
Statistical analysis using the data from Outcome 1, will be used to correlate rate of progression per year over 5 years to age and overall ZSD disease severity in each individual.
5 years
rate of progression of retinal degeneration
Time Frame: 5 years
Statistical analysis using the data from Outcome 1, will be used to define variance between participants in rate of progression of retinal degeneration.
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Collaborators

Canadian Institutes of Health Research (CIHR)

Investigators

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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

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 Major Dates

Study Start (Actual)

December 18, 2023

Primary Completion (Estimated)

January 1, 2029

Study Completion (Estimated)

January 1, 2029

Study Registration Dates

First Submitted

December 4, 2023

First Submitted That Met QC Criteria

January 3, 2024

First Posted (Actual)

January 5, 2024

Study Record Updates

Last Update Posted (Actual)

January 5, 2024

Last Update Submitted That Met QC Criteria

January 3, 2024

Last Verified

December 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2024-9679

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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