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

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Brief Title

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

Official Title

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

Brief Summary

      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.
    

Detailed Description

      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.
    


Study Type

Observational


Primary Outcome

Documentation of the clinical findings

Secondary Outcome

 Peroxisome function testing

Condition

Peroxisome Biogenesis Disorder


Study Arms / Comparison Groups

 Patients diagnosed with PBD
Description:  Collection of medical records and images (ultrasounds, X-rays, MRIs, CT scans, ophthalmic images), Next-generation panel, Drug screening, and Consultation

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

150

Start Date

January 2012

Completion Date

January 2022

Primary Completion Date

January 2022

Eligibility Criteria

        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
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Nancy E Braverman, MD, MS, (1) 514-934-1934, [email protected]

Location Countries

Canada

Location Countries

Canada

Administrative Informations


NCT ID

NCT01668186

Organization ID

11-090-PED


Responsible Party

Principal Investigator

Study Sponsor

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


Study Sponsor

Nancy E Braverman, MD, MS, Principal Investigator, McGill University Health Center, Montreal Childrens Hopital


Verification Date

November 2020