Clinical trials: CBS Deficiency
Hyperhomocysteinemia, Thrombotic, Cbs-Related, Ischemic Stroke
Methylenetetrahydrofolate Reductase Deficiency in Ischemic Stroke
Adult onset epileptic seizures is rare and often associated with metabolic disorders, drugs and intracranial pathologies such as ischemia, hemorrhage or space-occupying lesions.
- Conditions
- Hyperhomocysteinemia, Thrombotic, Cbs-Related, Ischemic Stroke, Epilepsy
- Trial name
- NCT04287881
- Testing
- Methylenetetrahydrofolate reductase (MTHFR) deficiency
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 32 people
- Sponsor
- Istanbul Medeniyet University
Human Immunodeficiency Virus (HIV)
Community Based Screening for HIV Self Testing in FSW in 23 Priority Districts in Indonesia
Indonesia is not yet on course to end HIV and AIDS by 2030. Epidemic transmission of HIV infection among key affected populations (KAPs), specifically FSWs, crucially has contributed to not achieving the target.
- Trial name
- CBS-FSW (NCT04578145)
- Testing
- HIV self-testing among female sex workers
- Where
- Indonesia
- Volunteers
- 1,522 people, healthy volunteers welcome
- Sponsor
- Kerti Praja Foundation
Homocystinuria
Health Related Quality of Life (HrQoL) in Classical Homocystinuria (CBS Deficiency)
Patients, parents of young / handicapped patients, and experts will be interviewed to collect contents relevant for HrQoL in CBS deficiency.
- Trial name
- CBS_HrQoL (NCT06556615)
- Testing
- Interview
- Where
- Switzerland
- Volunteers
- 80 people
- Sponsor
- University Children's Hospital, Zurich
CBS Deficiency
Effect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on Homocystinuria
In homocystinuria due to cystathionine beta synthase (CBS) deficiency or classical homocystinuria, decreased blood cysteine levels are observed.
- Trial name
- NCT04015557
- Testing
- Acetaminophen, N-acetylcysteine
- Where
- Brazil
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Hospital de Clinicas de Porto Alegre
Homocystinuria Due to CBS Deficiency
Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)
The purpose of the study is to characterize the clinical course of homocystinuria in pediatric and adult patients aged 1 to 65 years under current clinical management practices
- Trial name
- NCT02998710
- Where
- 11 sites in United States, Ireland and 2 more
- Volunteers
- 110 people
- Sponsor
- Travere Therapeutics, Inc.
Homocystinuria
Pegtibatinase as a Treatment for Patients With Classical Homocystinuria (HCU) (Also Known as the COMPOSE Study)
Researchers are looking for a better way to treat people who have classical homocystinuria (HCU), a rare condition that is passed down by parents (or "genetic condition").
- Trial name
- NCT03406611
- Testing
- Pegtibatinase
- Where
- 12 sites in United States, France and 1 more
- Volunteers
- 39 people
- Sponsor
- Travere Therapeutics, Inc.
Complications
Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria
Background: Cysteine beta-synthase (CBS) deficiency, often known as classic homocystinuria (HCU), is an uncommon inborn mistake in methionine metabolism.
- Trial name
- NCT06545305
- Testing
- Lensectomy and vitrectomy
- Where
- Saudi Arabia
- Volunteers
- 6 people
- Sponsor
- King Fahad Armed Forces Hospital
Homocystinuria
Pegtibatinase as a Treatment for Participants With Classical Homocystinuria (HCU) Receiving Standard of Care Treatment
Researchers are looking for a better way to treat people living with classical homocystinuria (HCU), a rare inherited condition.
- Trial name
- HARMONY (NCT06247085)
- Testing
- Pegtibatinase
- Where
- 52 sites in United States, Australia and 12 more
- Volunteers
- 70 people
- Sponsor
- Travere Therapeutics, Inc.
Homocystinuria
A Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥5 to ≤65 Years of Age With Classical Homocystinuria (HCU) (ENSEMBLE)
The goal of this long-term extension (LTE) study is to evaluate the safety and efficacy of pegtibatinase in patients with classical homocystinuria (HCU).
- Trial name
- ENSEMBLE (NCT06431893)
- Testing
- Pegtibatinase
- Where
- 52 sites in United States, Australia and 12 more
- Volunteers
- 100 people
- Sponsor
- Travere Therapeutics, Inc.
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
A Multiple Ascending Dose Study of ACN00177 (Pegtarviliase) in Subjects With CBS Deficiency
The purpose of this study is to evaluate the safety and tolerability of pegtarviliase in approximately 36 subjects with homocystinuria due to CBS deficiency.
- Trial name
- NCT05154890
- Testing
- Pegtarviliase IV, Pegtarviliase SC
- Where
- 9 sites in United States, Australia and 1 more
- Volunteers
- 13 people
- Sponsor
- Aeglea Biotherapeutics