Title Cerebrotendinous Xanthomatosis Registry: Long term Non-Interventional Follow-up of Safety and Effectiveness of Chenodeoxycholic Acid Leadiant.

Study type

• Study type:
  Non-interventional study
• Scope of the study:
  Assessment of risk minimisation measure implementation or effectiveness

  Effectiveness study (incl. comparative)

Non-interventional study

• Non-interventional study design:
  Other
• Non-interventional study design, other:
  Registry

Study drug and medical condition

• Medicinal product name:
  CHENODEOXYCHOLIC ACID
• Medical condition to be studied:
  Leukodystrophy

Population studied

• Age groups:
  • Infants and toddlers (28 days – 23 months)
  • Children (2 to < 12 years)
  • Adolescents (12 to < 18 years)
  • Adults (18 to < 46 years)
  • Adults (46 to < 65 years)
  • Adults (65 to < 75 years)
  • Adults (75 to < 85 years)
  • Adults (85 years and over)
• Estimated number of subjects:
  60

Study design details

• Main study objective:
  To study long term effectiveness and safety of Chenodeoxycholic Acid Leadaint for the treatment of Cerebrotendinous Xanthomatosis
• Outcomes:
  The primary endpoint of change from baseline in serum cholestanol level will be summarised using descriptive statistics, Urinary bile alcohols, disability scales, ataxia scales
• Data analysis plan:
  The primary endpoint of change from baseline in serum cholestanol level will besummarised using descriptive statistics. The mean change from baseline at each postbaselineassessment will be presented with 95% confidence intervals. A paired t-testwill be used to test for a significant change from baseline.