Betaine METABOLISM OF PATIENTS With Homocystinuria (HCTBETAINE)

March 1, 2018 updated by: Assistance Publique - Hôpitaux de Paris

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed 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.

Study Type

Interventional

Enrollment (Actual)

12

Phase

  • Phase 2

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75019
        • Assistance Publique - Hôpitaux de Paris

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 14 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: Randomized
  • Interventional Model: Crossover Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: 100 mg/kg of Betaine
Dose 1 : 100 mg/kg of Betaine
Drug: Betaine
Experimental: 250 mg/kg of Betaine
Dose 2 : 250 mg/kg of Betaine
Drug: Betaine

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
10 weeks - at the end of follow-up of each patient

Secondary Outcome Measures

Outcome Measure
Time Frame
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
10 weeks - at the end of follow-up of each patient
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
10 weeks - at the end of follow-up of each patient

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 1, 2015

Primary Completion (Actual)

December 1, 2017

Study Completion (Actual)

February 1, 2018

Study Registration Dates

First Submitted

March 6, 2015

First Submitted That Met QC Criteria

March 26, 2015

First Posted (Estimate)

March 31, 2015

Study Record Updates

Last Update Posted (Actual)

March 5, 2018

Last Update Submitted That Met QC Criteria

March 1, 2018

Last Verified

February 1, 2018

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • P130908

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.

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