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:

    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).
  • 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:

      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).
    • Eye assessments to evaluate ocular health [ Time Frame: 3 years ]
      1. Visual acuity examination will be performed to determine the clarity or sharpness of vision
      2. 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