A clinical trial testing the effect of betaine in infantile Refsum disease and neonatal adrenoleukodystrophy
Written on Wednesday 4 June 2014

Status: Active; Patient recruitment ongoing
Drug: Betaine (or trimethylglycine)
Aim: To test whether betaine allows peroxysome biochemical functions in blood to be recovered
Start of the trial: March 2013
Estimated end of the trial: June 2014
Doctor responsible: Nancy Braveman, Montreal Childrens’ Hospital, Quebec, Canada
Site of the trial: Montreal Childrens’ Hospital, Quebec, Canada
Funding: Medical Centre of the University of McGill, Orphan Europe
Reference: NCT01838941, RPGDN001
Patients
12 sick children with a defect in peroxysome formation (infantile Refsum disease or neonatal adrenoleukodystrophy) and carrying a PEX1-Gly843Asp mutation
Experimental treatment
In this pilot study, betaine will be administered by the oral route or via a gastrostomic tube at the following doses:
- For children of less than 30 kg: 6 g per day, divided into 3 doses (2 g, 3 times a day)
- For children of more than 30 kg: 12 g per day, in 4 doses (3 g, 4 times a day)
Inclusion criteria
- Boy or girl
- No age limit
- Diagnosis of disease with established defect in peroxysome formation
- Clinical syndromes: infantile Refsum disease or neonatal adrenoleukodystrophy
- Mutation: PEX1-Gly843Asp
Exclusion criteria
- Patients with mutations other than PEX1-Gly843Asp
- Patients already treated with betaine
Examinations
1.Measurement of peroxysome biochemical functions i.e.:
- Measurement of very long chain fatty acids in plasma
- Measurement of the level of plasmalogens in red blood cells
- Measurement of pipecolic acid in plasma
- Measurement of the profile of biliary acids in plasma
2. Measurement of child’s growth and development
Contacts
Nancy Braveman Tel : +1 514 934 1934 (ext. 23404) e-mail : nancy.braveman@mcgill.ca
Dan A. Chiche Tel : +1 514 575 6958 e-mail : chiched@gmail.com
Source : Clinicaltrials.gov
To find out more
- Neonatal adrenoleukodystrophy (Attention this illness is distinct from X-linked adrenoleukodystrophy).
- Infantile Refsum disease