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Trial record 3 of 15 for:    homocystinuria
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Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

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ClinicalTrials.gov Identifier: NCT02998710
Recruitment Status : Recruiting
First Posted : December 20, 2016
Last Update Posted : February 4, 2022
Sponsor:
Information provided by (Responsible Party):
Travere Therapeutics, Inc.

Study Description
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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
Homocystinuria Due to CBS Deficiency

Study Design
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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

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. 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.

  2. 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.

  3. 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.

  4. 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:

    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 domain scores, change from baseline for VAS will be calculated.

  5. 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 ]
  6. 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 ]
  7. Dual-Energy X-Ray Absorptiometry to measure bone mineral density [ Time Frame: 6.5 years ]
  8. Changes in Met cycle metabolites levels - tHcy [ Time Frame: 6.5 years ]
    Changes in total homocysteine levels in micromoles

  9. Changes in Met cycle metabolites levels - total Cys [ Time Frame: 6.5 years ]
    Changes in total cysteine levels in micromoles

  10. Changes in Met cycle metabolites levels - Met [ Time Frame: 6.5 years ]
    Changes in methionine levels in micromoles

  11. Changes in Met cycle metabolites levels - Cth [ Time Frame: 6.5 years ]
    Changes in cystathionine levels in micromoles


Secondary Outcome Measures :
  1. 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 ]
  2. 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 ]
  3. 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 ]
  4. Changes in alanine aminotransferase (ALT) [ Time Frame: 6.5 years ]
  5. Changes in aspartate aminotransferase (AST) [ Time Frame: 6.5 years ]
  6. Changes in alkaline phosphatase (ALP) [ Time Frame: 6.5 years ]
  7. Optional homocystynuria genetic testing [ Time Frame: The optional test will be done once at screening visit ]

Eligibility Criteria
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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
Study Population
Clinical site
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

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


Contacts
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Contact: Travere Call Center 1-877-659-5518 medinfo@travere.com

Locations
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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
Sponsors and Collaborators
Travere Therapeutics, Inc.
Investigators
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Study Director: Feriandas Greblikas Travere Therapeutics, Inc.
More Information
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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
Additional relevant MeSH terms:
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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