Status:
COMPLETED
Betaine and Peroxisome Biogenesis Disorders
Lead Sponsor:
McGill University Health Centre/Research Institute of the McGill University Health Centre
Collaborating Sponsors:
Children's Hospital and Medical Center, Omaha, Nebraska
Conditions:
Peroxisome Biogenesis Disorders
Eligibility:
All Genders
Phase:
PHASE3
Brief 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, a...
Detailed Description
Peroxisome biogenesis disorders (PBD) are a group of inherited conditions caused by faulty assembly of peroxisomes, structures located inside cells that regulate levels of important fats and lipids in...
Eligibility Criteria
Inclusion
- Males or females
- Any age
- Peroxisome Biogenesis Disorder (PBD) confirmed by biochemical analysis of at least two peroxisomal enzyme parameters:
- Elevated plasma VLCFA (C26/22) \> 0.02
- Elevated plasma branched chain pristanic acid \> 0.3 μg/ml
- Reduced red blood cell plasmalogen levels (C16:0DMA/C16:0 Fatty acid) \< 0.07
- PBD clinical syndromes: neonatal adrenoleukodystrophy (NALD) or infantile Refsum disease (IRD)
- Genotype PEX1-G843D/G843D, PEX1-G843D/I700fs, or PEX1-G843D and any second PEX1 mutation that is predicted to be null
- Expected survival of at least 6 months
Exclusion
- Genotypes other than PEX1 G843D/G843D, PEX1-G843D//I700fs, or PEX1-G843D and any second PEX1 mutation that is predicted to be null
- Patient already treated with betaine
Key Trial Info
Start Date :
March 1 2013
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
June 1 2015
Estimated Enrollment :
12 Patients enrolled
Trial Details
Trial ID
NCT01838941
Start Date
March 1 2013
End Date
June 1 2015
Last Update
June 28 2016
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
Montreal Children's Hospital
Montreal, Quebec, Canada, H3H 1P3