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NCT Number: NCT01668186

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

The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this population clinically, biochemically and genetically. The investigators will prospectively follow patients from Canada, the US and internationally, and collect data from medical evaluations, blood, urine and imaging studies that would be performed on a clinical care basis. For patients who are unable to attend our clinic, we will collect all medical records and images since birth as well as subsequent records/images for the next 5 years or until the end of the study. Clinical data from medical records will be banked in our Peroxisomal Disorder Research Databank and Biobank. The investigators will use this information to identify standards of care and improve management.

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Key information

Conditions

Peroxisome Biogenesis Disorder ACBD5 (AcylCoA Binding Domain 5) Deficiency ATP Binding Cassette Subfamily D Member 3 Gene Mutation Abnormalities, Multiple Adult Refsum Disease Alpha-Methylacyl-CoA Racemase Deficiency Bone Diseases Bone Diseases, Developmental Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Chondrodysplasia Punctata Chondrodysplasia Punctata, Rhizomelic Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities D-Bifunctional Protein Deficiency Digestive System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Kidney Diseases Liver Diseases Male Urogenital Diseases Metabolic Diseases Metabolism, Inborn Errors Musculoskeletal Diseases Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Osteochondrodysplasias Peripheral Nervous System Diseases Peroxisomal ACYL-COA oxidase deficiency Peroxisomal Acyl-CoA Oxidase 2 Deficiency Peroxisomal Disorders Peroxisome biogenesis disorders Polyneuropathies Pseudo-Zellweger syndrome RCDP - Rhizomelic Chondrodysplasia Punctata Refsum Disease Rhizomelic chondrodysplasia punctata, type 1 Sterol Carrier Protein 2 Deficiency Urogenital Diseases Urologic Diseases Zellweger Spectrum Disorder Zellweger Syndrome

Sex eligibility

All sexes

Study type

Observational

Primary location

Research Institute of the McGill University Health Center

Montreal, Quebec, H4A 3J1, Canada

Location status: Recruiting

Location contact

Nancy E Braverman, MD, MS

PRINCIPAL_INVESTIGATOR

About this study

Participants have the option to be seen in consultation at the McGill University Health Centre in Montreal, Canada, on a yearly basis. This includes a consultation in Genetics, Nutrition, Neurology, and Ophthalmology (OCT and FAF exams). All medical records and images will be collected, retrospectively and prospectively, until the end of the study, and entered anonymously in a database. Biospecimens will be collected to identify new biomarkers. Candidate drugs will be evaluated for recovery of peroxisome functions in cultured fibroblasts.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Documentation of the clinical findings

    Time frame: Yearly up to 10 years

    Clinical findings include but are not limited to: life span, growth parameters, development, vision, hearing, neurological examinations, renal problems, adrenal function, skeletal problems, and any other system involvement.

Secondary outcomes

  1. Peroxisome function testing

    Time frame: Yearly up to 10 years

    To include very long chain saturated, branched and polyunsaturated fatty acids, bile acids, plasmalogens, pipecolic acid, adrenal functions, liver functions, and urine oxalate.

  2. Development of leukodystrophy

    Time frame: Yearly up to 10 years

    Identification of patterns and course by MRI

  3. Scoring of fundus photography (OCT and FAF)

    Time frame: Yearly up to 10 years

    Identification of patterns and course

  4. Genotype-phenotype correlation

    Time frame: Yearly up to 10 years

    Correlation of mutation type to peroxisome biochemistry, number and type of disease complications.

  5. Frequency of various disease complications and identification of risk factors in the PBD population

    Time frame: Yearly up to 10 years

    Neurological, vision, hearing, liver dysfunction, adrenal insufficiency, osteopenia, renal stones

  6. Development of care management guideline resource for adolescents and adults with PBD-ZSD

    Time frame: Yearly up to 10 years

    Medical issues (Neurological, vision, hearing, liver dysfunction, adrenal insufficiency, osteopenia, renal stones), main challenges, and the pediatric-to-adult transition experience will be included in PBD-ZSD adult-specific management guidelines

Study contacts

Contact information is provided by the study sponsor or research team.

Evelyn M Zavacky, MSc

CONTACT

[email protected]

(1) 514-934-1934 ext. 23403

Nancy E Braverman, MD, MS

CONTACT

[email protected]

(1) 514-934-1934 ext. 23404

Sponsors and collaborators

Lead sponsor

McGill University Health Centre/Research Institute of the McGill University Health Centre

Other

Registry information

Important dates

Study start
2012
Primary completion
2030
Study completion
2031
First posted
Aug 17, 2012
Registry last updated
Dec 10, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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