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Homocystinuria clinical trials

View clinical trials related to Homocystinuria.

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NCT ID: NCT05462132 Completed - Homocystinuria Clinical Trials

Safety, Tolerability and Pharmacodynamics of SYNB1353 in Healthy Adult Volunteers

HCU
Start date: July 7, 2022
Phase: Phase 1
Study type: Interventional

This is a Phase 1, double-blind (Sponsor-open), placebo-controlled, randomized, dose-escalation, inpatient study using a multiple-ascending dose (MAD) design to assess the safety, tolerability, and PD of SYNB1353 in HVs.

NCT ID: NCT04021732 Completed - Homocystinuria Clinical Trials

Effects of Exercise on Metabolic Parameters in Classical Homocystinuria

Start date: July 1, 2019
Phase:
Study type: Observational

The aim of this research project is to compare the effect of an aerobic exercise session in two different populations. Sampling biological material and collecting health-related personal data entails minimal risks and burdens. Participants will be asked to perform 30 minutes of an aerobic exercise on an ergocycle at a fixed power output to correspond to a moderate intensity for a sedentary population.

NCT ID: NCT02404337 Completed - Homocystinuria Clinical Trials

Betaine METABOLISM OF PATIENTS With Homocystinuria

HCTBETAINE
Start date: July 2015
Phase: Phase 2
Study type: Interventional

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.

NCT ID: NCT01793090 Completed - Genetic Disease Clinical Trials

EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment

Start date: January 2013
Phase: Phase 2
Study type: Interventional

The aim of the research is to investigate the safety and efficacy of EPI-743 treatment in patients with Cbl-C defect and related visual and neurological impairment. Primary Endpoints will be the improvement in visual function as assessed by visual acuity and eye-hand coordination and manual dexterity. Secondary Endpoints will be the improvement in neurologic function, evaluated by a battery of age-appropriated psychophysical tests, and/or in objective electrophysiological tests such as Visual Evoked potentials (VEP) and Electroretinogram (ERG) and/or the change in serum markers of redox state.

NCT ID: NCT01192828 Completed - Homocystinuria Clinical Trials

Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine

Start date: January 2010
Phase: Phase 1/Phase 2
Study type: Interventional

Cystathionine beta-synthase deficiency is an inherited disease that results in elevation of a substance called homocysteine (Hcy) in blood and urine. Individuals with this disorder have a very high risk for developing blood clots and are at risk for developing eye and bone abnormalities. Current treatments are generally difficult to follow and can fail. Development of additional therapies has been limited by lack of understanding of how the disease works. The purpose of this study is to see if oxidative stress and inflammation are involved in the disease process and if short-term supplementation with taurine is an effective treatment. Funding source: FDA.

NCT ID: NCT00483314 Completed - Homocystinuria Clinical Trials

Homocystinuria: Treatment With N-Acetylcysteine

Start date: November 2007
Phase: Phase 2
Study type: Interventional

The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria.

NCT ID: NCT00004356 Completed - Homocystinuria Clinical Trials

Study of Homocysteine Metabolism in Homocystinuria

Start date: February 1995
Phase: N/A
Study type: Observational

OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate heterozygotes for CBS or MTHFR. II. Determine whole-body homocysteine metabolic rates with isotopically-labeled methionine.