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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
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| Measure | Description | Time Frame |
|---|---|---|
| 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] |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 6.5 years |
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Inclusion Criteria:
Exclusion Criteria:
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Clinical site
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Travere Call Center | Contact | 1-877-659-5518 | medinfo@travere.com |
| Name | Affiliation | Role |
|---|---|---|
| Michael Imperiale, MD | Travere Therapeutics, Inc. | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Travere Investigational Site - Virtual Site | Completed | Culver City | California | 90230 | United States | |
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.
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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.
Requires submission and approval of intended use and a data sharing agreement.
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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:
| 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 |
| 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. |
| 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. | 6.5 years |
| Changes in alanine aminotransferase (ALT) | The results will be summarized using descriptive statistics at each visit. | 6.5 years |
| Changes in aspartate aminotransferase (AST) | The results will be summarized using descriptive statistics at each visit. | 6.5 years |
| Changes in alkaline phosphatase (ALP) | The results will be summarized using descriptive statistics at each visit. | 6.5 years |
| Optional homocystynuria genetic testing | The optional test will be done once at screening visit |
| Travere Investigational Site (Enrolling 1 to <5 Year-olds Only) |
| Recruiting |
| Aurora |
| Colorado |
| 80045 |
| United States |
| Travere Investigational Site (Enrolling 1 to <5 Year-olds Only) | Recruiting | Washington D.C. | District of Columbia | 20010 | United States |
| Travere Investigational Site | Completed | Atlanta | Georgia | 30322 | United States |
| Travere Investigational Site | Completed | Indianapolis | Indiana | 46202 | United States |
| Travere Investigational Site | Completed | Boston | Massachusetts | 02115 | United States |
| Travere Investigational Site (Enrolling 1 to <5 Year-olds Only) | Recruiting | Philadelphia | Pennsylvania | 19104 | United States |
| Travere Investigational Site | Recruiting | Dublin | 1 | Ireland |
| Travere Investigational Site | Recruiting | Doha | Qatar | Qatar |
| Travere Investigational Site | Recruiting | Doha | Qatar |
| Travere Investigational Site | Completed | Salford | Manchester | M6 8HD | United Kingdom |
| ID | Term |
|---|---|
| D006712 | Homocystinuria |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020138 | Hyperhomocysteinemia |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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