Homocystinuria Clinical Trial
Official title:
Betaine METABOLISM OF PATIENTS With Homocystinuria
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. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT05687474 -
Baby Detect : Genomic Newborn Screening
|
||
| Recruiting |
NCT05910151 -
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
|
||
| Enrolling by invitation |
NCT03655223 -
Early Check: Expanded Screening in Newborns
|
||
| Completed |
NCT00483314 -
Homocystinuria: Treatment With N-Acetylcysteine
|
Phase 2 | |
| Recruiting |
NCT05051657 -
Evaluation of the Express Plus Range
|
N/A | |
| Completed |
NCT05462132 -
Safety, Tolerability and Pharmacodynamics of SYNB1353 in Healthy Adult Volunteers
|
Phase 1 | |
| Completed |
NCT04021732 -
Effects of Exercise on Metabolic Parameters in Classical Homocystinuria
|
||
| Active, not recruiting |
NCT03406611 -
Pegtibatinase as an Enzyme Therapy for Patients With Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE)
|
Phase 1/Phase 2 | |
| Completed |
NCT01192828 -
Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine
|
Phase 1/Phase 2 | |
| Completed |
NCT00004356 -
Study of Homocysteine Metabolism in Homocystinuria
|
N/A | |
| Recruiting |
NCT06247085 -
A Study to Investigate Efficacy and Safety of Pegtibatinase Compared With Placebo in Participants ≥12 to ≤65 Years of Age With Classical Homocystinuria (HCU) Due to Cystathionine Beta Synthase Deficiency Receiving Standard of Care Treatment
|
Phase 3 |