Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)
Recruiting
- Conditions
- Homocystinuria Due to CBS Deficiency
- Registration Number
- NCT02998710
- Lead Sponsor
- Travere Therapeutics, Inc.
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 150
Inclusion Criteria
Inclusion Criteria:<br><br> - Patients who are clinically diagnosed with homocystinuria<br><br> - Male/female patients aged 1 to 65 years<br><br> - Patients who consented and/or assented<br><br> - Patients who are willing and able to comply with all study-related procedures.<br><br>Exclusion Criteria:<br><br> - Medically significant postnatal complications or congenital anomalies that are not<br> associated with homocystinuria<br><br> - Received any experimental therapy for homocystinuria during the 6 months prior to<br> enrollment or expected to receive any such therapy during duration of the study
Exclusion Criteria
Not provided
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Changes in Met cycle metabolites levels - tHcy;Changes in Met cycle metabolites levels - total Cys;Changes in Met cycle metabolites levels - Met;Changes in Met cycle metabolites levels - Cth;Patient Reported Outcome (PRO): Quality of Life in Neurological Disorders [Neuro-QoL];Patient Reported Outcome (PRO): Quality of Life by 36-Item Short Form Survey [SF-36];National Institutes of Health (NIH) Toolbox Cognition Battery;EuroQol EQ-5D™ questionnaire to measure health and quality-of-life;Dual-Energy X-Ray Absorptiometry to measure bone mineral density;Eye assessments to evaluate ocular health: Visual acuity examination will be performed to determine the clarity or sharpness of vision;Eye assessments to evaluate ocular health: Slit lamp eye examination will be performed to look for any diseases or abnormalities in the anterior portion of the eye
- Secondary Outcome Measures
Name Time Method Growth and development: World Health Organization (WHO) growth charts will be used to document height in centimeters (cm) for age 1 to 19 years old. Routine methods will be used to document height for all other age groups.;Growth and development: World Health Organization (WHO) growth charts will be used to document Body Mass Index (BMI) in kilograms per meter square for age 1 to 19 years old. Routine methods will be used to document BMI for all other age groups.;Growth and development: World Health Organization (WHO) growth charts will be used to document weight in kilograms (kg) for age 1 to 19 years old. Routine methods will be used to document weight for all other age groups.;Changes in alanine aminotransferase (ALT);Changes in aspartate aminotransferase (AST);Changes in alkaline phosphatase (ALP);Optional homocystynuria genetic testing