Orphacol® patient surveillance database (Orphabase)

Study type

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

  Safety study (incl. comparative)
• Data collection methods:
  Combined primary data collection and secondary use of data

Non-interventional study

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

Study drug and medical condition

• Medicinal product name:
  ORPHACOL
• Study drug International non-proprietary name (INN) or common name:
  CHOLIC ACID
• Anatomical Therapeutic Chemical (ATC) code:
  (A05AA03) cholic acid

  cholic acid
• 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

• Short description of the study population:
  Patients of any age treated with Orphacol® for inborn errors in primary bile acid synthesis due to 3β-Hydroxy-Δ5-C27-steroid oxidoreductase deficiency or Δ4-3-Oxosteroid-5β-reductase deficiency.
• 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:
  Hepatic impaired

  Immunocompromised

  Pregnant women

  Renal impaired
• Estimated number of subjects:
  100

Study design details

• Study design:
  Multi-centre, multi-national, retrospective and prospective observational study
• 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.
• Setting:
  The selected investigators are hospital-based Health Care Professional (HCP) managing patients of any age suffering from inborn errors in primary bile acid synthesis and treated with Orphacol®.
• 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.