Betaine and Peroxisome Biogenesis Disorders
|Study Design:||Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
|Official Title:||A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders.|
- Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid [ Time Frame: 6 months ] [ Designated as safety issue: No ]C26/C22 ratio in plasma is a recognized biomarker for very long chain fatty acid (normal range: 0.002-0.018). It was measured twice before the beginning of treatment and measured once at the end.
- Developmental Status [ Time Frame: 6 months ] [ Designated as safety issue: No ]Denver Developmental Screening Test expressed in years and months.
|Study Start Date:||March 2013|
|Study Completion Date:||June 2015|
|Primary Completion Date:||January 2015 (Final data collection date for primary outcome measure)|
Betaine will be given orally to all participants and dose will be adjusted to body weight.
Betaine will be given orally (mixed with food or dissolved in water, juice, milk, or formula) or through gastrostomy tube as follows:
Other Name: Cystadane®
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01838941
|Montreal Children's Hospital|
|Montreal, Quebec, Canada, H3H 1P3|
|Principal Investigator:||Nancy Braverman, PhD, MD||Montreal Children's Hospital, MUHC|