Tier 2 — strong

Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial

Apolline Imbard, Artemis Toumazi, Sophie Magréault, Nuria Garcia-Segarra, Dimitri Schlemmer, Florentia Kaguelidou, Isabelle Perronneau, Jérémie Haignere, Hélène Ogier de Baulny, Alice Kuster, François Feillet, Corinne Alberti, Sophie Guilmin-Crépon, Jean-François Benoist, Manuel Schiff
Orphanet journal of rare diseases 2022 17(1):417

Bibliography

PubMed
PMID 36376887
PubMed Central
PMC9664596
DOI
10.1186/s13023-022-02567-4
Funding
Reported funding/support: PHRC InterregionalAOR13016
Competing interests
Reported disclosure: All of the authors declare that they have no conflict of interest.

Study snapshot

DesignRandomized crossover dose-equivalence trial
ModelHuman participants
Sample11 completers; 5 CBS-deficient and 6 cblC patients
InterventionPrescription betaine 100 versus 250 mg/kg/day
Duration1 month per dose
EndpointsHomocysteine; Methionine; SAM; Pharmacokinetics

What the study showed, in plain terms

Published in 2022, this source examined prescription betaine and inherited metabolic disorders. Design: Randomized crossover dose-equivalence trial. Sample/model: 11 completers; 5 CBS-deficient and 6 cblC patients. The exposure or intervention was Prescription betaine 100 versus 250 mg/kg/day. Follow-up or treatment period: 1 month per dose.

Homocysteine control was equivalent at the two doses. Higher dosing increased methionine and SAM, potentially useful in cblC but concerning in CBS deficiency.

Very small, disease-specific trial. Higher doses may have different consequences depending on the metabolic defect.

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Key findings

  • Homocysteine control was equivalent at the two doses.
  • Higher dosing increased methionine and SAM, potentially useful in cblC but concerning in CBS deficiency.
  • The recorded outcome domains were Homocysteine; Methionine; SAM; Pharmacokinetics.
  • The result applies to the tested exposure: Prescription betaine 100 versus 250 mg/kg/day; 1 month per dose.

What this study can and cannot tell us

  • Very small, disease-specific trial. Higher doses may have different consequences depending on the metabolic defect.
  • An individual controlled trial must be interpreted alongside its comparator, sample size, endpoint selection and independent replication. It does not validate a different commercial formulation or a general longevity claim.
  • Source basis: Accessible full-text extract plus indexed bibliographic data. Missing method details, funding information or participant denominators are not inferred.

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Dr. Khaled Mahmoud, MBBChCritical Care Medicine, Longevity Science & Editorial Direction Dr. Amr Yasser, PhDCardiometabolic, Musculoskeletal, Gut & Bioavailability Dr. Abdulla Mostafa, PhDCellular Senescence, Neurological, Mitochondrial & Brain-Ageing Biology