Clinical trial NCT02998710: Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)
Official title: A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients (ACAPPELLA)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Homocystinuria Due to CBS Deficiency
Lead sponsor: Travere Therapeutics, Inc.
Sponsor class: INDUSTRY
First posted: 2016-12-20
Enrollment: 150
Sex: ALL
Minimum age (years): 1
Maximum age (years): 65
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Clinical site

Brief summary: 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


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

Primary outcomes:
measure: Changes in Met cycle metabolites levels - tHcy
timeFrame: 6.5 years
measure: Changes in Met cycle metabolites levels - total Cys
timeFrame: 6.5 years
measure: Changes in Met cycle metabolites levels - Met
timeFrame: 6.5 years
measure: Changes in Met cycle metabolites levels - Cth
timeFrame: 6.5 years
measure: Patient Reported Outcome (PRO): Quality of Life in Neurological Disorders [Neuro-QoL]
timeFrame: 6.5 years
measure: Patient Reported Outcome (PRO): Quality of Life by 36-Item Short Form Survey [SF-36]
timeFrame: 6.5 years
measure: National Institutes of Health (NIH) Toolbox Cognition Battery
timeFrame: 6.5 years
measure: EuroQol EQ-5D™ questionnaire to measure health and quality-of-life
timeFrame: 6.5 years
measure: Dual-Energy X-Ray Absorptiometry to measure bone mineral density
timeFrame: 6.5 years
measure: Eye assessments to evaluate ocular health: Visual acuity examination will be performed to determine the clarity or sharpness of vision
timeFrame: 6.5 years
measure: 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
timeFrame: 6.5 years
Secondary outcomes:
measure: 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.
timeFrame: 6.5 years
measure: 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.
timeFrame: 6.5 years
measure: 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.
timeFrame: 6.5 years
measure: Changes in alanine aminotransferase (ALT)
timeFrame: 6.5 years
measure: Changes in aspartate aminotransferase (AST)
timeFrame: 6.5 years
measure: Changes in alkaline phosphatase (ALP)
timeFrame: 6.5 years
measure: Optional homocystynuria genetic testing
timeFrame: The optional test will be done once at screening visit
Other outcomes:
Locations:
city: Culver City
country: United States
facility: Travere Investigational Site - Virtual Site
state: California
city: Aurora
country: United States
facility: Travere Investigational Site (Enrolling 1 to <5 Year-olds Only)
state: Colorado
city: Washington
country: United States
facility: Travere Investigational Site (Enrolling 1 to <5 Year-olds Only)
state: District of Columbia
city: Atlanta
country: United States
facility: Travere Investigational Site
state: Georgia
city: Indianapolis
country: United States
facility: Travere Investigational Site
state: Indiana
city: Boston
country: United States
facility: Travere Investigational Site
state: Massachusetts
city: Philadelphia
country: United States
facility: Travere Investigational Site (Enrolling 1 to <5 Year-olds Only)
state: Pennsylvania
city: Dublin
country: Ireland
facility: Travere Investigational Site
city: Doha
country: Qatar
facility: Travere Investigational Site
city: Salford
country: United Kingdom
facility: Travere Investigational Site
state: Manchester
Study officials:
affiliation: Travere Therapeutics, Inc.
name: Michael Imperiale, MD
role: STUDY_DIRECTOR
References: