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Researchers track rare metabolic disorders to unlock secrets

NCT ID NCT01668186

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better understand the condition and improve future care.

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 244 people

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

Started

Jan 2012

Expected to finish

Jan 2031

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 patient with a PBD diagnosis- or related single enzyme/protein defect

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: * Diagnosis of PBD or * Single peroxisome enzyme/protein defect with phenotype similar to PBD Exclusion Criteria: * Not a PBD * Not a single peroxisome enzyme/protein defect with phenotype similar to PBD

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Conditions

The condition(s) this trial relates to.

acyl-CoA binding domain containing protein 5 deficiency adult Refsum disease alpha-methylacyl-CoA racemase deficiency d-bifunctional protein deficiency peroxisomal acyl-CoA oxidase deficiency peroxisome biogenesis disorder Pseudo-Zellweger syndrome rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata, type 1 sterol carrier protein 2 deficiency Zellweger spectrum disorders

As listed by the trial registrant

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

ACBD5 (acylcoa binding domain 5) deficiency Adult Refsum disease Alpha-methylacyl-coa racemase deficiency Atp binding cassette subfamily D member 3 gene mutation D-bifunctional protein deficiency Peroxisomal acyl-coa oxidase 2 deficiency Peroxisomal acyl-coa oxidase deficiency Peroxisome biogenesis disorder RCDP - rhizomelic chondrodysplasia punctata Sterol carrier protein 2 deficiency 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

    1 site. 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

  • Research Institute of the McGill University Health Center

    RECRUITING

    Montreal, Quebec, H4A 3J1, Canada

More trials for these conditions

Other studies related to the condition(s) this trial covers.