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Betaine and Peroxisome Biogenesis Disorders

NCT01838941 · Status: COMPLETED · Phase: PHASE3 · Type: INTERVENTIONAL · Enrollment: 12

Last updated 2016-06-28

Study results available
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Summary

The PBD are a rare group of inherited disorders due to the failure to form functional cellular peroxisomes. Most patients have progressive hearing and visual loss, leading to deafness and blindness, as well as neurological deterioration. There are no therapies for this disorder. A misfolded protein with residual function, PEX1-Gly843Asp, represents one third of all mutant alleles. Using patient cell lines with this mutation, we reported the recovery of peroxisome functions by treatment with Betaine, acting as a nonspecific chemical chaperone for the misfolded PEX1 protein. Betaine, or trimethylglycine, is a Health Canada and FDA approved orphan drug for the treatment of homocystinuria and is used by us safely and regularly in genetic medicine. We will perform a 6 month pilot study with 12 patients to test the hypothesis that Betaine, at recommended doses, can recover peroxisome biochemical functions in blood.

Conditions

  • Peroxisome Biogenesis Disorders

Interventions

DRUG

Betaine

Betaine will be given orally (mixed with food or dissolved in water, juice, milk, or formula) or through gastrostomy tube as follows: * 6 g/day in children \< 30 kg, in 3 divided doses (2 g at meal time) * 12 g/day in children \> 30 kg, in 4 divided doses (3 g at meal time and bed time).

Sponsors & Collaborators

  • Children's Hospital and Medical Center, Omaha, Nebraska

    collaborator OTHER

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

    lead OTHER

Principal Investigators

  • Nancy Braverman, PhD, MD · Montreal Children's Hospital, MUHC

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-03-31
Primary Completion
2015-01-31
Completion
2015-06-30

Countries

  • Canada

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01838941 on ClinicalTrials.gov