An observational disease and clinical outcomes registry of patients with lysosomal acid lipase (LAL) deficiency (ALX-LALD-501)

Study type

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

  Drug utilisation

  Effectiveness study (incl. comparative)

  Safety study (incl. comparative)

Non-interventional study

• Non-interventional study design:
  Other
• Non-interventional study design, other:
  Observational registry

Study drug and medical condition

• Anatomical Therapeutic Chemical (ATC) code:
  (A16AB14) sebelipase alfa

  sebelipase alfa
• Medical condition to be studied:
  Lysosomal acid lipase deficiency

Population studied

• Age groups:
  • Paediatric Population (< 18 years)

    • Neonate

      • Preterm newborn infants (0 – 27 days)
      • Term newborn infants (0 – 27 days)
    • Infants and toddlers (28 days – 23 months)
    • Children (2 to < 12 years)
    • Adolescents (12 to < 18 years)
  • Adult and elderly population (≥18 years)

    • Adults (18 to < 65 years)

      • Adults (18 to < 46 years)
      • Adults (46 to < 65 years)
    • Elderly (≥ 65 years)

      • Adults (65 to < 75 years)
      • Adults (75 to < 85 years)
      • Adults (85 years and over)
• Special population of interest:
  Pregnant women
• Estimated number of subjects:
  297

Study design details

• Main study objective:
  Further understand the disease, its progression and any associated complications and evaluate the long-term effectiveness and safety of sebelipase alfa.
• Data analysis plan:
  Data analyses will be periodically conducted to meet requirements (or upon request) of regulatory agencies and reimbursement authorities and for support of scientific manuscripts and/or conference abstracts. This is an observational Registry intended to descriptively document the clinical course of LAL deficiency, thus, no single statistical hypothesis test is planned. Several variables are taken into account like LAL deficiency diagnostic test results, medical/clinical history, clinical chemistry results and quality of life.