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

NCT02998710 | Recruiting

• 1 other identifier: CBS-HCY-NHS-01
• Study Type: observational
• Target: 150
• Locations: 4 countries
• Sites: 11

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

Conditions

Homocystinuria Due to CBS Deficiency

Outcome Measures

Primary Outcomes (11)

• 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.

  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.

  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.

  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.

  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.

  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.

  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.

  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.

  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.

  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.

  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.

  6.5 years

Secondary Outcomes (7)

• 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.

  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.

  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.

  6.5 years

• Changes in alanine aminotransferase (ALT)

  6.5 years

• Changes in aspartate aminotransferase (AST)

  6.5 years

Eligibility Criteria

• Age: 1 Year - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Clinical site

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Travere Therapeutics, Inc.: lead

Study Sites (11)

Travere Investigational Site - Virtual Site

Culver City, California, 90230, United States

COMPLETED

Travere Investigational Site (Enrolling 1 to <5 Year-olds Only)

Aurora, Colorado, 80045, United States

RECRUITING

Travere Investigational Site (Enrolling 1 to <5 Year-olds Only)

Washington D.C., District of Columbia, 20010, United States

RECRUITING

Travere Investigational Site

Atlanta, Georgia, 30322, United States

COMPLETED

Travere Investigational Site

Indianapolis, Indiana, 46202, United States

COMPLETED

Travere Investigational Site

Boston, Massachusetts, 02115, United States

COMPLETED

Travere Investigational Site (Enrolling 1 to <5 Year-olds Only)

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Travere Investigational Site

Dublin, 1, Ireland

RECRUITING

Travere Investigational Site

Doha, Qatar, Qatar

RECRUITING

Travere Investigational Site

Doha, Qatar

RECRUITING

Travere Investigational Site

Salford, Manchester, M6 8HD, United Kingdom

COMPLETED

MeSH Terms

Conditions

Homocystinuria

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hyperhomocysteinemia; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Michael Imperiale, MD

  Travere Therapeutics, Inc.

  STUDY DIRECTOR

Central Study Contacts

Travere Call Center

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 2, 2016
• First Posted: December 20, 2016
• Study Start: January 1, 2017
• Primary Completion: April 1, 2026
• Study Completion (Estimated): August 1, 2026
• Last Updated: November 22, 2024

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will share
• Time Frame: Requests can be made following completion of the study and full publication of the study data in a peer reviewed journal for up to 36 months following its publication.
• Access Criteria: Requires submission and approval of intended use and a data sharing agreement.

Locations

GB (1); IE (1); US (7); QA (2)