Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
Study Details
Study Description
Brief Summary
The purpose of the study is to characterize the clinical course of homocystinuria in pediatric and adult patients aged 5 to 65 years under current clinical management practices
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Study Design
Outcome Measures
Primary Outcome Measures
- Patient Reported Outcome (PRO): Quality of Life in Neurological Disorders [Neuro-QoL] [6.5 years]
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.
- Patient Reported Outcome (PRO): Quality of Life by 36-Item Short Form Survey [SF-36] [6.5 years]
The original reponses 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.
- National Institutes of Health (NIH) Toolbox Cognition Battery [6.5 years]
The average score and the change from baseline will be summarized using descriptive statistics.
- EuroQol EQ-5D™ questionnaire to measure health and quality-of-life [6.5 years]
EQ-5D™ is a standardized questionnaire as judged by the patients. This questionnaire consists of two parts: 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. Visual analogue scale (VAS) is a vertical scale from 0 (worst) to 100 (best). Descriptive statistics will be provided for domain scores, change from baseline for VAS will be calculated.
- Eye assessments to evaluate ocular health: Visual acuity examination will be performed to determine the clarity or sharpness of vision [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 [6.5 years]
- Dual-Energy X-Ray Absorptiometry to measure bone mineral density [6.5 years]
- Changes in Met cycle metabolites levels - tHcy [6.5 years]
Changes in total homocysteine levels in micromoles
- Changes in Met cycle metabolites levels - total Cys [6.5 years]
Changes in total cysteine levels in micromoles
- Changes in Met cycle metabolites levels - Met [6.5 years]
Changes in methionine levels in micromoles
- Changes in Met cycle metabolites levels - Cth [6.5 years]
Changes in cystathionine levels in micromoles
Secondary Outcome Measures
- Growth and development: World Health Organization (WHO) growth charts will be used to document height in centimeters (cm) for age 5 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 5 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 5 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]
- Changes in alkaline phosphatase (ALP) [6.5 years]
- Optional homocystynuria genetic testing [The optional test will be done once at screening visit]
Eligibility Criteria
Criteria
Inclusion Criteria:
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Patients who are clinically diagnosed with homocystinuria
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Male/female patients aged 5 to 65 years
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Patients who consented and/or assented
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Patients who are willing and able to comply with all study-related procedures.
Exclusion Criteria:
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Medically significant postnatal complications or congenital anomalies that are not associated with homocystinuria
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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
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Travere Investigational Site | Aurora | Colorado | United States | 80045 |
| 2 | Travere Investigational Site | Washington | District of Columbia | United States | 20010 |
| 3 | Travere Investigational Site | Decatur | Georgia | United States | 30033 |
| 4 | Travere Investigational Site | Indianapolis | Indiana | United States | 46202 |
| 5 | Travere Investigational Site | Boston | Massachusetts | United States | 02115 |
| 6 | Travere Investigational Site | Philadelphia | Pennsylvania | United States | 19104 |
| 7 | Travere Investigational Site | Dublin | Ireland | 1 | |
| 8 | Travere Investigational Site | Salford | Manchester | United Kingdom | M6 8HD |
Sponsors and Collaborators
- Travere Therapeutics, Inc.
Investigators
- Study Director: Feriandas Greblikas, Travere Therapeutics, Inc.
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- CBS-HCY-NHS-01