Skip to main content
OpenTrials
Completed

NCT Number: NCT02404337

Betaine METABOLISM OF PATIENTS With Homocystinuria

Oral treatment with betaine is conventionally used for patients with inherited homocystinurias.

These conditions include a first group of patients with a cystathionine β-synthase (CBS) deficiency and a second group of patients with remethylation defects.

The aim of betaine therapy is to reduce level of total plasma homocysteine. Daily dosages and rhythm of administration proposed in the literature vary between 100 to 250 mg / kg / d in 2 to 4 doses. These dosages are not based on validated data and several publications mention much higher dosages particularly when total homocysteine is not controlled. These practices may be unnecessary or even detrimental given the fact that high doses of betaine could for example lead to secondary folate deficiency.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Homocystinuria Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Hyperhomocysteinemia Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Skin and Connective Tissue Diseases

Age range

1 year–18 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Assistance Publique - Hôpitaux de Paris

Paris, 75019, France

About this study

Oral treatment with betaine is conventionally used for patients with inherited homocystinurias.

These conditions include a first group of patients with a cystathionine β-synthase (CBS) deficiency and a second group of patients with remethylation defects.

The aim of betaine therapy is to reduce level of total plasma homocysteine. Daily dosages and rhythm of administration proposed in the literature vary between 100 to 250 mg / kg / d in 2 to 4 doses. These dosages are not based on validated data and several publications mention much higher dosages particularly when total homocysteine is not controlled. These practices may be unnecessary or even detrimental given the fact that high doses of betaine could for example lead to secondary folate deficiency.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • ≥1 year and children <18 years,
  • homocystinuria confirmed enzymatically or molecularly divided into 2 groups:
  • CBS deficiency remethylation defects (CbIC defect and MTHFR deficiency)
  • Diagnosis of homocystinuria since more than 1 year
  • Continuous treatment of hyperhomocysteinemia in the last 12 months

Exclusion criteria

  • Deficits in cystathionine beta-synthase B6-responsive
  • pregnancy
  • breast-feeding
  • Young pubescent girls not using effective contraception

Treatment and study plan

Betaine

Drug

Primary outcomes

  1. Plasma level of total homocysteine upon oral treatment with Betaine at 100 mg / kg / day compared with 250 mg / kg / day in the same individual.

    Time frame: 10 weeks - at the end of follow-up of each patient

    The assay technique used is MS/MS validated according to ISO standard 1589. Samples will be frozen and analysed at the end of follow-up of the study. Freezing does not affect the validity of the technique used.

Secondary outcomes

  1. Measurement of dimethylglycine plasma level following the loading dose of 100 mg / kg of betaine compared in the same person with the dose of 250 mg / kg.

    Time frame: 10 weeks - at the end of follow-up of each patient

  2. Measurement of sarcosine plasma level following the loading dose of 100 mg / kg of betaine compared in the same person with the dose of 250 mg / kg.

    Time frame: 10 weeks - at the end of follow-up of each patient

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Acronym: HCTBETAINE

Important dates

Study start
2015
Primary completion
2017
Study completion
2018
First posted
Mar 31, 2015
Registry last updated
Feb 3, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.