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

• Register: ClinicalTrials.gov
• Last refreshed on: 22 April 2024
• Main ID: NCT02998710
• Date of registration: 02/12/2016
• Prospective Registration: Yes
• Primary sponsor: Travere Therapeutics, Inc.
• Public title: Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)
• Scientific title: A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients (ACAPPELLA)
• Date of first enrolment: January 2017
• Target sample size: 150
• Recruitment status: Recruiting
• URL: https://clinicaltrials.gov/ct2/show/NCT02998710
• Study type: Observational

Countries of recruitment

Ireland, Qatar, United Kingdom, United States

Contacts

• Name: Sagar A Vaidya, MD, PhD
• Affiliation: Travere Therapeutics, Inc.

• Name: Travere Call Center

Key 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



Age minimum: 1 Year
Age maximum: 65 Years
Gender: All

Health Condition(s) or Problem(s) studied

Homocystinuria Due to CBS Deficiency

Primary Outcome(s)

EuroQol EQ-5D™ questionnaire to measure health and quality-of-life [Time Frame: 6.5 years]

Changes in Met cycle metabolites levels - Cth [Time Frame: 6.5 years]

Changes in Met cycle metabolites levels - total Cys [Time Frame: 6.5 years]

Changes in Met cycle metabolites levels - tHcy [Time Frame: 6.5 years]

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 [Time Frame: 6.5 years]

National Institutes of Health (NIH) Toolbox Cognition Battery [Time Frame: 6.5 years]

Patient Reported Outcome (PRO): Quality of Life by 36-Item Short Form Survey [SF-36] [Time Frame: 6.5 years]

Patient Reported Outcome (PRO): Quality of Life in Neurological Disorders [Neuro-QoL] [Time Frame: 6.5 years]

Changes in Met cycle metabolites levels - Met [Time Frame: 6.5 years]

Dual-Energy X-Ray Absorptiometry to measure bone mineral density [Time Frame: 6.5 years]

Eye assessments to evaluate ocular health: Visual acuity examination will be performed to determine the clarity or sharpness of vision [Time Frame: 6.5 years]

Secondary Outcome(s)

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. [Time Frame: 6.5 years]

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. [Time Frame: 6.5 years]

Changes in alkaline phosphatase (ALP) [Time Frame: 6.5 years]

Changes in aspartate aminotransferase (AST) [Time Frame: 6.5 years]

Changes in alanine aminotransferase (ALT) [Time Frame: 6.5 years]

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. [Time Frame: 6.5 years]

Optional homocystynuria genetic testing [Time Frame: The optional test will be done once at screening visit]

Secondary ID(s)

CBS-HCY-NHS-01

Source(s) of Monetary Support

Please refer to primary and secondary sponsors