Tier 4 — mechanistic

Betaine anhydrous in homocystinuria: results from the RoCH registry

Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet, Léna Damaj, Dries Dobbelaere, Claire Gay, Sylvie Hiéronimus, Virginie Levrat, François Maillot
Orphanet journal of rare diseases 2019 14(1):66

Bibliography

PubMed
PMID 30871635
PubMed Central
PMC6419445
DOI
10.1186/s13023-019-1036-2
Funding
Reported funding/support: Orphan Europe-Ricordati FundingThe RoCH registry is a post-authorization safety study for Cystadane® funded by Orphan Europe.
Competing interests
Reported disclosure: ETHICS APPROVAL AND CONSENT TO PARTICIPATE: Ethics approval is not mandatory for non-interventional studies conducted in France and Spain. Data privacy collection approval was obtained. An information sheet was provided to patients and verbal consent was obtained in compliance with French and Spanish law for such a study. CONSENT FOR PUBLICATION: Not applicable. COMPETING INTERESTS: All authors except GT, BF and MS received payment from Orphan Europe directly or indirectly through their institution/association for participation in the registry. VV is currently an employee of Sanofi Genzyme. He performed most of this work while he was at Necker-Enfants Malades University Hospital. LD has a conflict of interest with Orphan Europe. FM has received an honorarium from Orphan Europe. The other authors have no conflicts of interest to declare. PUBLISHER’S NOTE: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Study snapshot

DesignObservational treatment registry
ModelHuman participants
Sample125 children and adults at 29 centers
InterventionPrescription betaine anhydrous plus other disease-specific care
DurationMean treatment duration 7.4 years
EndpointsHomocysteine; Long-term tolerability

What the study showed, in plain terms

Published in 2019, this source examined prescription betaine and inherited metabolic disorders. Design: Observational treatment registry. Sample/model: 125 children and adults at 29 centers. The exposure or intervention was Prescription betaine anhydrous plus other disease-specific care. Follow-up or treatment period: Mean treatment duration 7.4 years.

Homocysteine was approximately 29% lower overall. Most treatment was tolerated, but drug-related events, including one serious event, were reported.

No untreated comparator and heterogeneous diagnoses/co-therapies. Registry results apply to specialist treatment, not routine wellness supplementation.

Continue with TMG Data Center

Continue with TMG, Methylation and MTHFR: Understanding the Evidence

Key findings

  • Homocysteine was approximately 29% lower overall.
  • Most treatment was tolerated, but drug-related events, including one serious event, were reported.
  • The recorded outcome domains were Homocysteine; Long-term tolerability.
  • The exposure was observed rather than assigned as an isolated supplement treatment.

What this study can and cannot tell us

  • No untreated comparator and heterogeneous diagnoses/co-therapies. Registry results apply to specialist treatment, not routine wellness supplementation.
  • Confounding, dietary patterns, illness, medication use and reverse causation can influence an association. Blood or dietary concentrations do not identify the effect of starting a capsule.
  • Source basis: Accessible full-text extract plus indexed bibliographic data. Missing method details, funding information or participant denominators are not inferred.

Related papers in the corpus

Tier 2
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders
Giorgia Olivieri et al. · Journal of inherited metabolic disease · 2026
Tier 2
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Andrew A M Morris et al. · Journal of inherited metabolic disease · 2017
Tier 4
Postauthorization safety study of betaine anhydrous
Ulrike Mütze et al. · Journal of inherited metabolic disease · 2022
Tier 4
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence
Bernd C Schwahn et al. · JIMD reports · 2020
Tier 2
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial
Apolline Imbard et al. · Orphanet journal of rare diseases · 2022

Citation network

Articles citing this research paper

2 articles

Biohack Blueprint analyses that reference this study in their evidence base.

Editorial review

Reviewed by the Biohack Blueprint research team

Last verified

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