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

Launched by TRAVERE THERAPEUTICS, INC. · Dec 16, 2016

Keywords

ClinConnect Summary

The ACAPPELLA study is a clinical trial focused on understanding how homocystinuria, a rare genetic condition caused by a deficiency in an enzyme called cystathionine beta-synthase (CBS), affects patients over time. This research aims to gather important information about the health and treatment experiences of both children and adults, aged 1 to 65, who have been diagnosed with this condition. By studying how these patients are currently managed, the trial hopes to improve future care and treatments.

To participate in this study, individuals must be clinically diagnosed with homocystinuria and be between 1 and 65 years old. They should also be willing to follow the study's requirements and give their consent. However, people who have serious health issues unrelated to homocystinuria or who have received experimental treatments for this condition in the past six months cannot take part. Those who enroll can expect to provide information about their health and treatment, helping researchers gain a better understanding of this condition and how to support patients more effectively.

Gender

ALL

Eligibility criteria

• 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