Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
![]() |
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT02998710 |
Recruitment Status :
Recruiting
First Posted : December 20, 2016
Last Update Posted : February 4, 2022
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
Condition or disease |
---|
Homocystinuria Due to CBS Deficiency |
Study Type : | Observational |
Estimated Enrollment : | 150 participants |
Observational Model: | Case-Only |
Time Perspective: | Prospective |
Official Title: | A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients |
Actual Study Start Date : | January 2017 |
Estimated Primary Completion Date : | April 2025 |
Estimated Study Completion Date : | August 2025 |

- Patient Reported Outcome (PRO): Quality of Life in Neurological Disorders [Neuro-QoL] [ Time Frame: 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] [ Time Frame: 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 [ Time Frame: 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 [ Time Frame: 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 [ 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 [ Time Frame: 6.5 years ]
- Dual-Energy X-Ray Absorptiometry to measure bone mineral density [ Time Frame: 6.5 years ]
- Changes in Met cycle metabolites levels - tHcy [ Time Frame: 6.5 years ]Changes in total homocysteine levels in micromoles
- Changes in Met cycle metabolites levels - total Cys [ Time Frame: 6.5 years ]Changes in total cysteine levels in micromoles
- Changes in Met cycle metabolites levels - Met [ Time Frame: 6.5 years ]Changes in methionine levels in micromoles
- Changes in Met cycle metabolites levels - Cth [ Time Frame: 6.5 years ]Changes in cystathionine levels in micromoles
- 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. [ 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 5 to 19 years old. Routine methods will be used to document BMI for all other age groups. [ 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 5 to 19 years old. Routine methods will be used to document weight for all other age groups. [ Time Frame: 6.5 years ]
- Changes in alanine aminotransferase (ALT) [ Time Frame: 6.5 years ]
- Changes in aspartate aminotransferase (AST) [ Time Frame: 6.5 years ]
- Changes in alkaline phosphatase (ALP) [ Time Frame: 6.5 years ]
- Optional homocystynuria genetic testing [ Time Frame: The optional test will be done once at screening visit ]

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 5 Years to 65 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Patients who are clinically diagnosed with homocystinuria
- Male/female patients aged 5 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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02998710
Contact: Travere Call Center | 1-877-659-5518 | medinfo@travere.com |
United States, Colorado | |
Travere Investigational Site | Recruiting |
Aurora, Colorado, United States, 80045 | |
United States, District of Columbia | |
Travere Investigational Site | Recruiting |
Washington, District of Columbia, United States, 20010 | |
United States, Georgia | |
Travere Investigational Site | Recruiting |
Decatur, Georgia, United States, 30033 | |
United States, Indiana | |
Travere Investigational Site | Recruiting |
Indianapolis, Indiana, United States, 46202 | |
United States, Massachusetts | |
Travere Investigational Site | Recruiting |
Boston, Massachusetts, United States, 02115 | |
United States, Pennsylvania | |
Travere Investigational Site | Recruiting |
Philadelphia, Pennsylvania, United States, 19104 | |
Ireland | |
Travere Investigational Site | Recruiting |
Dublin, Ireland, 1 | |
United Kingdom | |
Travere Investigational Site | Recruiting |
Salford, Manchester, United Kingdom, M6 8HD |
Study Director: | Feriandas Greblikas | Travere Therapeutics, Inc. |
Responsible Party: | Travere Therapeutics, Inc. |
ClinicalTrials.gov Identifier: | NCT02998710 |
Other Study ID Numbers: |
CBS-HCY-NHS-01 |
First Posted: | December 20, 2016 Key Record Dates |
Last Update Posted: | February 4, 2022 |
Last Verified: | January 2022 |
Homocystinuria 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 Connective Tissue Diseases Metabolic Diseases |