Researchers track rare metabolic disorders to unlock secrets

NCT ID NCT01668186

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

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.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for ACBD5 (ACYLCOA BINDING DOMAIN 5) DEFICIENCY are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

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

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.