Ignite Creation Date:
2024-05-06 @ 1:31 AM
Last Modification Date:
2024-10-26 @ 11:06 AM
Study NCT ID:
NCT01838941
Status:
COMPLETED
Last Update Posted:
2016-06-28
First Post:
2013-03-29
Brief Title:
Betaine and Peroxisome Biogenesis Disorders
Sponsor:
McGill University Health CentreResearch Institute of the McGill University Health Centre
Organization:
McGill University Health CentreResearch Institute of the McGill University Health Centre
Study Overview
Official Title:
A Pilot Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders
Status:
COMPLETED
Status Verified Date:
2016-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 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
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 the body When there is faulty peroxisome assembly as in PBD these important fats and lipids either accumulate or are not made There is no specific treatment for these disorders and management is supportive In order to complement existing supportive therapies physicians and researchers are still actively looking for new treatments acting on the root cause of PBD the peroxisome function To identify drugs that help recover peroxisome function a group of scientists developed a laboratory-based research test aimed at reviewing the activity of the large number of potential treatments Using this test they have uncovered that Betaine can improve the function of the peroxisome when the defect is caused by a PEX1-Gly843Asp mutation and as such may improve the overall health of child suffering from PBD
Betaine is a medication already available as a powder for oral solution for another rare disease It is approved in many countries including Health Canada for Canada and the Food and Drug Administration for the USA Paediatric genetic physicians are used to prescribing this medication and know it well
At the current stage of scientific knowledge it is a critical next step to evaluate the benefit of betaine in children having a PBD due to a PEX1-Gly843Asp mutation to ensure that the medication is safe and to measure the level of improvement of the function of the peroxisome
Thus the principal objective of the study is to determine the improvement in the key peroxisome functions plasma very long chain fatty acid profiles red cell plasmalogen levels plasma pipecolic acid levels and plasma bile acid profiles Another objective is to measure the growth of your child and his her development
Betaine is a medication already available as a powder for oral solution for another rare disease It is approved in many countries including Health Canada for Canada and the Food and Drug Administration for the USA Paediatric genetic physicians are used to prescribing this medication and know it well
At the current stage of scientific knowledge it is a critical next step to evaluate the benefit of betaine in children having a PBD due to a PEX1-Gly843Asp mutation to ensure that the medication is safe and to measure the level of improvement of the function of the peroxisome
Thus the principal objective of the study is to determine the improvement in the key peroxisome functions plasma very long chain fatty acid profiles red cell plasmalogen levels plasma pipecolic acid levels and plasma bile acid profiles Another objective is to measure the growth of your child and his her development
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None