Clinical Trial: Betaine METABOLISM OF PATIENTS With Homocystinuria

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: Betaine METABOLISM OF PATIENTS With Homocystinuria

Brief 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.


Detailed 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.


Sponsor: Assistance Publique - Hôpitaux de Paris

Current Primary Outcome: 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.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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 ]
  • 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 ]


Original Secondary Outcome: Same as current

Information By: Assistance Publique - Hôpitaux de Paris

Dates:
Date Received: March 6, 2015
Date Started: July 2015
Date Completion: October 2017
Last Updated: August 12, 2016
Last Verified: August 2016