- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01838941
Betaine and Peroxisome Biogenesis Disorders
A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders.
Study Overview
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.
Study Type
Enrollment (Actual)
Phase
- Phase 3
Contacts and Locations
Study Locations
-
-
Quebec
-
Montreal, Quebec, Canada, H3H 1P3
- Montreal Children's Hospital
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- ADULT
- OLDER_ADULT
- CHILD
Accepts Healthy Volunteers
Genders Eligible for Study
Description
Inclusion Criteria:
- Males or females
- Any age
Peroxisome Biogenesis Disorder (PBD) confirmed by biochemical analysis of at least two peroxisomal enzyme parameters:
- Elevated plasma VLCFA (C26/22) > 0.02
- Elevated plasma branched chain pristanic acid > 0.3 μg/ml
- Reduced red blood cell plasmalogen levels (C16:0DMA/C16:0 Fatty acid) < 0.07
- PBD clinical syndromes: neonatal adrenoleukodystrophy (NALD) or infantile Refsum disease (IRD)
- Genotype PEX1-G843D/G843D, PEX1-G843D/I700fs, or PEX1-G843D and any second PEX1 mutation that is predicted to be null
- Expected survival of at least 6 months
Exclusion Criteria:
- Genotypes other than PEX1 G843D/G843D, PEX1-G843D//I700fs, or PEX1-G843D and any second PEX1 mutation that is predicted to be null
- Patient already treated with betaine
Study Plan
How is the study designed?
Design Details
- Primary Purpose: TREATMENT
- Allocation: NA
- Interventional Model: SINGLE_GROUP
- Masking: NONE
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
EXPERIMENTAL: Betaine
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 Names:
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid
Time Frame: 6 months
|
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.
|
6 months
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Developmental Status
Time Frame: 6 months
|
Denver Developmental Screening Test expressed in years and months.
|
6 months
|
Collaborators and Investigators
Collaborators
Investigators
- Principal Investigator: Nancy Braverman, PhD, MD, Montreal Children's hospital, MUHC
Publications and helpful links
Study record dates
Study Major Dates
Study Start
Primary Completion (ACTUAL)
Study Completion (ACTUAL)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ESTIMATE)
Study Record Updates
Last Update Posted (ESTIMATE)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- RPGDN001
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Peroxisome Biogenesis Disorders
-
Brendon Gurd, PhDCompletedMitochondrial BiogenesisCanada
-
Brendon Gurd, PhDUnknownTime-course of Mitochondrial Biogenic Gene and Protein Expression in Exercised Human Skeletal MuscleMitochondrial BiogenesisCanada
-
Queen's UniversityCompletedMitochondrial BiogenesisCanada
-
The Hospital for Sick ChildrenCompletedZellweger Syndrome | Peroxisome Biogenesis DisordersCanada
-
McGill University Health Centre/Research Institute...RecruitingPeroxisome Biogenesis Disorder | Zellweger Spectrum Disorder | RCDP - Rhizomelic Chondrodysplasia Punctata | D-Bifunctional Protein Deficiency | Alpha-Methylacyl-CoA Racemase Deficiency | Peroxisomal Acyl-CoA Oxidase Deficiency | Peroxisomal Acyl-CoA Oxidase 2 Deficiency | ATP Binding Cassette Subfamily... and other conditionsCanada
-
John J FreibergerTerminatedCardiac Disease | Mitochondrial Biogenesis | Carbon MonoxideUnited States
-
Children's Hospital of PhiladelphiaIllumina, Inc.Active, not recruitingMucopolysaccharidoses | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2 Gangliosidosis | Zellweger... and other conditionsUnited States
-
Indivior Inc.CompletedOpioid-related DisordersUnited States
-
Rennes University HospitalCompletedAtypical Cognitive DisordersFrance
-
University of NebraskaCompletedSubstance-related Disorders | Alcohol-related DisordersUnited States
Clinical Trials on Betaine
-
University of California, San FranciscoCompleted
-
University of Sao PauloCompleted
-
Southern California Institute for Research and...UnknownNon-Alcoholic Fatty Liver Disease | Non Insulin Dependent Diabetes | ALTUnited States
-
Poznan University of Life SciencesNational Science Centre, PolandUnknown
-
University of Colorado, DenverCompleted
-
Fundació Sant Joan de DéuNot yet recruitingInfant Growth | Childhood Overweight
-
Michael J. OrmsbeeActive, not recruitingInflammation | Body Temperature Changes | Body Water DehydrationUnited States
-
University of North Carolina, Chapel HillCompletedMale Infertility | Men Carrying 2 Minor Alleles for Choline Dehydrogenase rs12676United States
-
Mucosa Innovations, S.L.CompletedOral Mucositis and Quality of Life With a Mucosa Topical Composition in Head & Neck Cancer Patients.Quality of Life | Pain | Mucositis | Radiation Toxicity | Chemotherapeutic Toxicity | Oral Mucositis | Saliva | SpeechSpain
-
University of California, San FranciscoCompletedPharmacodynamicUnited States