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New study tracks eye disease in rare genetic disorder

NCT ID NCT06190626

Knowledge-focused Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study follows 30 people with Zellweger Spectrum Disorder over 5 years to understand how their vision changes over time. Participants will have yearly vision tests, physical exams, and blood work. The goal is to define the course of retinal degeneration and find the best ways to monitor it.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could provide doctors and families with clear information on how vision loss progresses in Zellweger Spectrum Disorder and which tests best track it.
What could go wrong
This is an observational study with only 30 participants, so findings may not apply to all patients. It does not test any treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 30 people

The number the study aims to enrol. It can still change while the study runs.

Started

Dec 2023

Expected to finish

Jan 2029

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

any age, with appropriate diagnosis

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

peroxisome biogenesis disorder retinal disorder Zellweger spectrum disorders

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Zellweger spectrum disorder

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    3 sites in 2 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Eye Institute of Alberta

    RECRUITING

    Edmonton, Alberta, T5H 3V9, Canada

  • Research Institute-McGill University Health Center

    RECRUITING

    Montreal, Quebec, H4A 3J1, Canada

  • University of Rochester Medical Center/Flaum Eye Institute

    RECRUITING

    Rochester, New York, 14642, United States

More trials for these conditions

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