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

Travere Therapeutics, Inc.150 enrolled

Overview

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

Study Type

OBSERVATIONAL

Enrollment

150

Conditions

Homocystinuria Due to CBS Deficiency

Eligibility

Sex: ALLMin age: 1 YearMax age: 65 Years

Medical Language ↔ Plain English

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

Locations (11)

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

Outcomes

Primary Outcomes

Changes in Met cycle metabolites levels - tHcy

Changes in total homocysteine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.

Time frame: 6.5 years

Changes in Met cycle metabolites levels - total Cys

Changes in total cysteine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.

Time frame: 6.5 years

Changes in Met cycle metabolites levels - Met

Changes in total methionine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.

Time frame: 6.5 years

Changes in Met cycle metabolites levels - Cth

Changes in total cystathionine levels in micromoles. The met cycle metabolites levels and change from baseline will be summarized using descriptive statistics at each visit.

Time frame: 6.5 years

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

Short forms for four domains (anxiety, depression, social activities, cognition function) by adults version for age 18+ and pediatric version for age 12-17 are used. A summary score will be calculated for each domain by adding up the scores for individual questions. The aggregated score for each domain as a continuous variable, and the change from baseline in the aggregated domain score will be summarized using descriptive statistics at each visit.

Time frame: 6.5 years

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

The original responses to all questions are scored on a scale from 0 to 100, with 100 representing the highest level possible. The rescaled scores that address each specific area of functional health status are averaged together, for a final score within each of the 8 domains measured. The average is based on the number of items with non-missing scores. The average score for each domain and the change from baseline will be summarized using descriptive statistics at each visit.

Central Contacts

Travere Call Center

CONTACT

1-877-659-5518 medinfo@travere.com

Data from ClinicalTrials.gov

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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

...and 1 more locations

Time frame: 6.5 years

National Institutes of Health (NIH) Toolbox Cognition Battery

The NIH Toolbox is a multi-dimensional assessment tool that is used to measure the neurological and behavioral function of a patient over time. Assessments are recorded as 7 individual test scores, 1 total summary score and 2 composite scores. The raw measure scores and age-corrected standard scores and the change from baseline of the scores will be summarized using descriptive statistics at each visit.

Time frame: 6.5 years

EuroQol EQ-5D™ questionnaire to measure health and quality-of-life

EQ-5D™ is a standardized questionnaire as judged by the patients. This questionnaire consists of two parts: 1. Five domains: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. Each dimension consists of 5 levels of grading: no problem, slight problem, moderate problem, severe problem and extreme problem. For youths, 3 levels of grading: no problem, some problems, and a lot of problems. 2. Visual analogue scale (VAS) is a vertical scale from 0 (worst) to 100 (best). Descriptive statistics will be provided for the five domains. Descriptive statistics will be provided for VAS and change from baseline at each visit for pooled EQ-5D-Y version and EQ-5D-5L version.

Time frame: 6.5 years

Dual-Energy X-Ray Absorptiometry to measure bone mineral density

The z-score, t-score, and bone mineral density and change from baseline will be summarized by the location of X-ray (spine, hip, and total body) at each visit.

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

Visual acuity examination will be performed to determine the clarity or sharpness of vision. The results will be summarized using descriptive statistics at each visit.

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

Slit lamp eye examination will be performed to look for any diseases or abnormalities in the anterior portion of the eye. The results will be summarized using descriptive statistics at each visit.

Time frame: 6.5 years

Secondary Outcomes

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.