An observational study in Homocystinuria Due to CBS Deficiency, sponsored by Travere Therapeutics, Inc.. Completed at 11 sites in 4 countries. Open to participants aged 1 Year to 65 Years. Per ClinicalTrials.gov, last updated 2026-09-09.
Sponsored by Travere Therapeutics, Inc. · Observational
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
20 studies on the registry are indexed under Homocystinuria; 5 are open to participants now.
Browse Homocystinuria studies →Travere Therapeutics, Inc. is the lead sponsor of 14 studies on the registry; 4 are open to participants now.
Of its 5 completed or terminated interventional studies of FDA-regulated products, 4 (80%) have results posted.
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Clinical site
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
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.
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
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.
The results will be summarized using descriptive statistics at each visit.
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.
The results will be summarized using descriptive statistics at each visit.
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.
The results will be summarized using descriptive statistics at each visit.
Time frame: 6.5 years
Changes in alanine aminotransferase (ALT)
The results will be summarized using descriptive statistics at each visit.
Time frame: 6.5 years
Changes in aspartate aminotransferase (AST)
The results will be summarized using descriptive statistics at each visit.
Time frame: 6.5 years
Changes in alkaline phosphatase (ALP)
The results will be summarized using descriptive statistics at each visit.
Time frame: 6.5 years
Optional homocystinuria genetic testing
Time frame: The optional test will be done once at screening visit
Plan to share: Yes — Requests for clinical trial data, including language stating its intended use, should be directed to datarequest@travere.com. If approved, the requested information will be provided to the requestor after signing a data access agreement. 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. Travere reserves the right to decline or recommend modifications to a request if it does not comply with the data sharing policy or if it is determined that the request is made by a biased source.
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.
No publications or documents are linked to this record.
Ran from Jan 2017 to primary completion in Jul 2026, 114 months.
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This study is completed, as verified in Aug 2026. You cannot join it, but the record below documents what was studied.
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Travere Therapeutics, Inc.