Clinical Trial: Natural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH)
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients
Brief Summary: The purpose of the study is to characterize the clinical course of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) in pediatric and adult patients under current clinical management practices
Detailed Summary:
Sponsor: Orphan Technologies Ltd
Current Primary Outcome:
- National Institutes of Health (NIH) Toolbox Cognition Battery [ Time Frame: 3 years ]
- EuroQol EQ-5D™ questionnaire to measure health and quality-of-life [ Time Frame: 3 years ]
EQ-5D™ is a standardized questionnaire as judged by the patients. This questionnaire consists of two parts:
- 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.
- Visual analogue scale (VAS) is a vertical scale from 0 (worst) to 100 (best).
- Eye assessments to evaluate ocular health: Visual acuity examination will be performed to determine the clarity or sharpness of vision [ Time Frame: 3 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: 3 years ]
- Dual-Energy X-Ray Absorptiometry to measure bone mineral density [ Time Frame: 3 years ]
- 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: 3 years ]
- Growth and
Original Primary Outcome:
- National Institutes of Health (NIH) Toolbox Cognition Battery [ Time Frame: 3 years ]
- EuroQol EQ-5D™ questionnaire to measure health and quality-of-life [ Time Frame: 3 years ]
EQ-5D™ is a standardized questionnaire as judged by the patients. This questionnaire consists of two parts:
- 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.
- Visual analogue scale (VAS) is a vertical scale from 0 (worst) to 100 (best).
- Eye assessments to evaluate ocular health [ Time Frame: 3 years ]
- Visual acuity examination will be performed to determine the clarity or sharpness of vision
- Slit lamp eye examination will be performed to look for any diseases or abnormalities in the anterior portion of the eye
- Dual-Energy X-Ray Absorptiometry to measure bone mineral density [ Time Frame: 3 years ]
- Growth and development [ Time Frame: 3 years ]World Health Organization (WHO) growth charts will be used to document height in centimeters (cm), weight in kilograms (kg), and Body Mass Index (BMI
Current Secondary Outcome:
- Amino acid tests [ Time Frame: 3 years ]
- Optional CBSDH genetic testing [ Time Frame: The optional test will be done once at screening visit ]
Original Secondary Outcome: Same as current
Information By: Orphan Technologies Ltd
Dates:
Date Received: December 2, 2016
Date Started: January 2017
Date Completion: April 2021
Last Updated: May 2, 2017
Last Verified: May 2017