Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)

Travere Therapeutics

Status: Enrolling

Conditions: Homocystinuria Due to CBS Deficiency

Study type: Observational

Funder types: Industry

Identifiers

NCT02998710

CBS-HCY-NHS-01

Details and patient eligibility

About

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

Enrollment: 150 estimated patients

Sex: All

Ages: 1 to 65 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients who are clinically diagnosed with homocystinuria
• Male/female patients aged 1 to 65 years
• Patients who consented and/or assented
• Patients who are willing and able to comply with all study-related procedures.

Exclusion criteria

• Medically significant postnatal complications or congenital anomalies that are not associated with homocystinuria
• Received any experimental therapy for homocystinuria during the 6 months prior to enrollment or expected to receive any such therapy during duration of the study