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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 100 mg/kg of Betaine | Experimental | Dose 1 : 100 mg/kg of Betaine |
|
| 250 mg/kg of Betaine | Experimental | Dose 2 : 250 mg/kg of Betaine |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Betaine | Drug |
|
| 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. | 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 |
| Measure | Description | 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. | 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. |
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Inclusion Criteria:
≥1 year and children <18 years,
homocystinuria confirmed enzymatically or molecularly divided into 2 groups:
Diagnosis of homocystinuria since more than 1 year
Continuous treatment of hyperhomocysteinemia in the last 12 months
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Assistance Publique - Hôpitaux de Paris | Paris | 75019 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 36376887 | Result | 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 deficiencies: a cross-over randomized controlled trial. Orphanet J Rare Dis. 2022 Nov 14;17(1):417. doi: 10.1186/s13023-022-02567-4. |
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| ID | Term |
|---|---|
| D006712 | Homocystinuria |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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| ID | Term |
|---|---|
| D001622 | Betaine |
| ID | Term |
|---|---|
| D050337 | Trimethyl Ammonium Compounds |
| D000644 | Quaternary Ammonium Compounds |
| D000588 | Amines |
| D009930 | Organic Chemicals |
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| 10 weeks - at the end of follow-up of each patient |
| D009422 | Nervous System Diseases |
| D020138 | Hyperhomocysteinemia |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D009861 |
| Onium Compounds |