Orphacol® patient surveillance database (Orphabase)

Study type

• Study type:
  Non-interventional study
• Scope of the study:
  Effectiveness study (incl. comparative)

  Safety study (incl. comparative)

Non-interventional study

• Non-interventional study design:
  Other
• Non-interventional study design, other:
  Retrospective and prospective observational study

Study drug and medical condition

• Name of medicine:
  Orphacol
• Medical condition to be studied:
  Bile acid synthesis disorder
• Additional medical condition(s):
  inborn errors in primary bile acid synthesis due to 3β-Hydroxy-Δ5-C27-steroid oxidoreductase deficiency or Δ4-3-Oxosteroid-5β-reductase deficiency

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)
• Special population of interest:
  Renal impaired

  Hepatic impaired

  Immunocompromised

  Pregnant women
• Estimated number of subjects:
  100

Study design details

• Main study objective:
  Increase the amount of available data on the treatment of inborn errors in primary bile acid synthesis due to 3β-HSD deficiency or Δ4-3-OxoR deficiency with Orphacol® in infants, children, adolescents and adults, and especially data on initial efficacy and safety of treatment with cholic acid.
• Outcomes:
  The primary criteria for efficacy evaluation are measurement of blood biochemistry parameters, in particular the levels of aspartate aminotransferase (ASAT), alanine aminotransferase (ALAT), gamma-glutamyl transferase (GGT), alkaline phosphatase (ALP), total bilirubin and Vitamin E.
• Data analysis plan:
  Descriptive statistics are used to describe the included patients.