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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 24, 2021
Sponsor:
Information provided by (Responsible Party):
Orphan Technologies Ltd

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 : 100 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 : October 2024
Estimated Study Completion Date : December 2024

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. National Institutes of Health (NIH) Toolbox Cognition Battery [ Time Frame: 6.5 years ]
  2. 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 dimensions: 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).

  3. 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 ]
  4. 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 ]
  5. Dual-Energy X-Ray Absorptiometry to measure bone mineral density [ Time Frame: 6.5 years ]
  6. 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 ]
  7. Growth and development: World Health Organization (WHO) growth charts will be used to document weight in kilograms (kg) for age 5 to 10 years old. Routine methods will be used to document weight for all other age groups. [ Time Frame: 6.5 years ]
  8. 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 ]

Secondary Outcome Measures :
  1. Amino acid tests [ Time Frame: 6.5 years ]
  2. 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

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 Medical Information 1-877-659-5518 medinfo@travere.com

Locations
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United States, Colorado
Children's Hospital Colorado Recruiting
Aurora, Colorado, United States, 80045
United States, District of Columbia
The Children's National Medical Center (Institution) Recruiting
Washington, District of Columbia, United States, 20010
United States, Georgia
Emory University, School of Medicine Department of Human Genetics Recruiting
Decatur, Georgia, United States, 30033
United States, Indiana
Indiana University School of Medicine Recruiting
Indianapolis, Indiana, United States, 46202
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
United States, Pennsylvania
The Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Ireland
Temple Street Children's University Hospital Recruiting
Dublin, Ireland, 1
United Kingdom
Salford Royal NHS Foundation Trust Recruiting
Salford, Manchester, United Kingdom, M6 8HD
Sponsors and Collaborators
Orphan Technologies Ltd
More Information
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Responsible Party: Orphan Technologies Ltd
ClinicalTrials.gov Identifier: NCT02998710    
Other Study ID Numbers: CBS-HCY-NHS-01
First Posted: December 20, 2016    Key Record Dates
Last Update Posted: February 24, 2021
Last Verified: February 2021
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