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

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


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

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

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