Betaine METABOLISM OF PATIENTS With Homocystinuria

Homocystinuria Clinical Trial

— HCTBETAINE  

Official title:

Betaine METABOLISM OF PATIENTS With Homocystinuria

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02404337
• Other study ID #: P130908
• Status: Completed
• Phase: Phase 2
• Start date: July 2015
• Est. completion date: February 2018

Study information

• Verified date: February 2018
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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.

Description:

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 12
• Est. completion date: February 2018
• Est. primary completion date: December 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Year to 18 Years

Eligibility

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

Related Conditions & MeSH terms

• Homocystinuria

Intervention

Drug:
• Betaine

Locations

Country	Name	City	State
France	Assistance Publique - Hôpitaux de Paris	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

References & Publications (1)

Imbard A, Toumazi A, Magreault S, Garcia-Segarra N, Schlemmer D, Kaguelidou F, Perronneau I, Haignere J, de Baulny HO, Kuster A, Feillet F, Alberti C, Guilmin-Crepon S, Benoist JF, Schiff M. Efficacy and pharmacokinetics of betaine in CBS and cblC deficie — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	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.	10 weeks - at the end of follow-up of each patient
Secondary	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.		10 weeks - at the end of follow-up of each patient
Secondary	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.		10 weeks - at the end of follow-up of each patient