Betaine METABOLISM OF PATIENTS With Homocystinuria (HCTBETAINE)

Assistance Publique - Hôpitaux de Paris

Status and phase: Completed; Phase 2

Conditions: Homocystinuria

Treatments: Drug: Betaine

Study type: Interventional

Funder types: Other

Identifiers

NCT02404337

P130908

Details and patient eligibility

About

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.

Full 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.

Enrollment: 12 patients

Sex: All

Ages: 1 to 18 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Crossover Assignment

Masking: None (Open label)

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12 participants in 2 patient groups

100 mg/kg of Betaine

Experimental group

Description:

Dose 1 : 100 mg/kg of Betaine

Treatment:

Drug: Betaine

250 mg/kg of Betaine

Experimental group

Description:

Dose 2 : 250 mg/kg of Betaine

Treatment:

Drug: Betaine