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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.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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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

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Research Institute of the McGill University Health Center

    RECRUITING

    Montreal, Quebec, H4A 3J1, Canada

    Contact