Clinical trials for Zellweger spectrum disorders

In this section, you will find up-to-date information regarding clinical trials for Zellweger spectrum disorders, also known as fatty acids." >peroxisome biogenesis disorders, i.e.:

Status: Active ; Currently recruiting patients
Drug: Betaine (or trimethylglycine)
Objective: To test if betaine can recover fatty acids." >peroxisome biochemical functions in blood

Start date: March 2013
Estimated end of the study: June 2014
On-going data analysis

Principal investigator: Nancy Braveman, Montreal Children’s Hospital, Quebec, Canada
Location: Montreal Children’s Hospital, Quebec, Canada
Funding: McGill University Health Center, Orphan Europe
Reference: NCT01838941, RPGDN001

12 children with a peroxisome biogenesis disorder (Infantile Refsum disease or neonatal adrenoleukodystrophy) carrying the PEX1-Gly843Asp mutation.

Experimental protocol
During this pilot study, betaine will be given orally or through gastrostomy tube at the following doses:

  • For children weighting less than 30 kg : 6 g per day in 3 divided doses (2 g, 3 times daily)
  • For children weighting more than 30 kg : 12 g per day in 4 divided doses (3 g, 4 times daily)

Inclusion criteria

  • Boy or girl
  • Any age
  • Diagnosis of peroxisome biogenesis disorder confirmed
  • Clinical syndromes: Infantile Refsum disease or neonatal adrenoleukodystrophy
  • Mutation : PEX1-Gly843Asp

Exclusion criteria

  • Patients carrying mutations other than PEX1-Gly843Asp
  • Patient already treated with betaine


  1. Peroxisome biochemical functions as measured by:
    • plasma very long chain fatty acid profiles
    • red cell plasmalogen levels
    • plasma pipecolic acid levels
    • plasma bile acid profiles

2. Growth developmental status


Nancy Braveman         Tel : +1 514 934 1934 (ext. 23404)          e-mail :
Dan A. Chiche                Tel : +1 514 575 6958                                    e-mail :

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