# Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)

> **NCT01668186** · — · RECRUITING · sponsor: **McGill University Health Centre/Research Institute of the McGill University Health Centre** · enrollment: 244 (estimated)

## Conditions studied

- Peroxisome Biogenesis Disorder
- Zellweger Spectrum Disorder
- RCDP - Rhizomelic Chondrodysplasia Punctata
- D-Bifunctional Protein Deficiency
- Alpha-Methylacyl-CoA Racemase Deficiency
- Peroxisomal Acyl-CoA Oxidase Deficiency
- Peroxisomal Acyl-CoA Oxidase 2 Deficiency
- ATP Binding Cassette Subfamily D Member 3 Gene Mutation
- ACBD5 (AcylCoA Binding Domain 5) Deficiency
- Adult Refsum Disease
- Sterol Carrier Protein 2 Deficiency

## Interventions

_None listed._

## Key facts

- **NCT ID:** NCT01668186
- **Lead sponsor:** McGill University Health Centre/Research Institute of the McGill University Health Centre
- **Sponsor class:** OTHER
- **Phase:** —
- **Study type:** OBSERVATIONAL
- **Status:** RECRUITING
- **Start date:** 2012-01
- **Primary completion:** 2030-01
- **Final completion:** 2031-01
- **Target enrollment:** 244 (ESTIMATED)
- **Last updated:** 2025-12-10


## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT01668186

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT01668186, "Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)". Retrieved via AI Analytics 2026-06-02 from https://api.ai-analytics.org/clinical/NCT01668186. Licensed CC0.

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