Observing the clinical course of homocystinuria caused by CBS deficiency
A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients (ACAPPELLA)
This study looks at how homocystinuria affects people aged 1 to 65 who are already receiving treatment to better understand the condition over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 150 (estimated) |
| Ages | 1 Year to 65 Years |
| Sex | All |
| Sponsor | Travere Therapeutics, Inc. Industry-sponsored |
| Locations | 11 sites (Culver City, California and 10 other locations) |
| Trial ID | NCT02998710 on ClinicalTrials.gov |
What this trial studies
This observational study aims to characterize the clinical course of homocystinuria in patients aged 1 to 65 years who are currently receiving clinical management. It will involve collecting data on the health status and treatment outcomes of individuals diagnosed with homocystinuria due to cystathionine beta-synthase deficiency. The study will not involve any experimental treatments but will focus on understanding the natural history of the condition under existing management practices.
Who should consider this trial
Good fit: Ideal candidates include males and females aged 1 to 65 years who have been clinically diagnosed with homocystinuria.
Not a fit: Patients with significant postnatal complications or congenital anomalies unrelated to homocystinuria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the progression of homocystinuria, potentially leading to improved management strategies for patients.
How similar studies have performed: While this study focuses on the natural history of a specific condition, similar observational studies have provided critical insights into other metabolic disorders, suggesting potential for meaningful findings.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Culver City, California and 10 other locations
- Travere Investigational Site - Virtual Site — Culver City, California, United States (Completed)
- Travere Investigational Site (Enrolling 1 to <5 Year-olds Only) — Aurora, Colorado, United States (Recruiting)
- Travere Investigational Site (Enrolling 1 to <5 Year-olds Only) — Washington D.C., District of Columbia, United States (Recruiting)
- Travere Investigational Site — Atlanta, Georgia, United States (Completed)
- Travere Investigational Site — Indianapolis, Indiana, United States (Completed)
- Travere Investigational Site — Boston, Massachusetts, United States (Completed)
- Travere Investigational Site (Enrolling 1 to <5 Year-olds Only) — Philadelphia, Pennsylvania, United States (Recruiting)
- Travere Investigational Site — Dublin, Ireland (Recruiting)
- Travere Investigational Site — Doha, Qatar, Qatar (Recruiting)
- Travere Investigational Site — Doha, Qatar (Recruiting)
- Travere Investigational Site — Salford, Manchester, United Kingdom (Completed)
Study contacts
- Study coordinator: Travere Call Center
- Email: medinfo@travere.com
- Phone: 1-877-659-5518
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.