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.
Phase:
Phase 3
Details
Lead Sponsor:
McGill University Health Center McGill University Health Centre/Research Institute of the McGill University Health Centre
Collaborators:
Children's Hospital & Medical Center Omaha Children's Hospital and Medical Center, Omaha, Nebraska