An international disease registry collecting data on manifestations, interventions and outcomes in patients with tuberous sclerosis complex - TOSCA

Study type

• Study topic:
  Disease /health condition

  Human medicinal product
• Study type:
  Non-interventional study
• Scope of the study:
  Other

  Safety study (incl. comparative)
• If ‘other’, further details on the scope of the study:
  To map TSC manifestations, identify rare symptoms/co-morbidities, record interventions and outcomes, define an evidence base for disease assessment/therapy, evaluate long-term safety of Votubia®
• Data collection methods:
  Combined primary data collection and secondary use of data

Non-interventional study

• Non-interventional study design:
  Cohort

  Other
• Non-interventional study design, other:
  Prescription event monitoring, Disease Registry, Post-Authorization Safety Study

Study drug and medical condition

• Study drug International non-proprietary name (INN) or common name:
  EVEROLIMUS
• Medical condition to be studied:
  Tuberous sclerosis complex

Population studied

• Short description of the study population:
  Patients were eligible for inclusion in the TOSCA PASS if they met all of the following criteria:; 1. Patients participating in the TOSCA disease registry.; 2. Patients on treatment with everolimus prescribed for the licensed indications in the European Union (EU).; 3. Patients had to sign the TOSCA PASS informed consent form (ICF) (parental/guardian consent, if applicable) before any data or information was provided into the safety sub-study.
• Age groups:
  • Paediatric Population (< 18 years)

    • Adolescents (12 to < 18 years)
    • Children (2 to < 12 years)
    • Infants and toddlers (28 days – 23 months)
    • Neonate

      • Preterm newborn infants (0 – 27 days)
      • Term newborn infants (0 – 27 days)
  • 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:
  Other
• Special population of interest, other:
  Tuberous sclerosis patients
• Estimated number of subjects:
  2000

Study design details

• Main study objective:
  Registry: Map the course of TSC manifestations, identify rare symptoms and comorbidities, contribute to create an evidence base for disease assessment and therapy, inform research in TSC, measure quality of life, collect information on sexual maturation/endocrine assessments. PASS: Document long term safety of Votubia® in TSC patients treated in the licensed indications.
• Outcomes:
  REGISTRY: Patients with each TSC manifestation, overall survival, incidence and prevalence of rare symptoms/ co-morbidities, frequency of interventions, outcome of manifestations, identification of scientific hypotheses. PASS: Incidence of adverse events (including important potential and identified risks), serious adverse events, Votubia®-related adverse events.
• Data analysis plan:
  All patients enrolled in the registry will be considered in the analysis.Demographic and clinical parameters will be tabulated for the descriptive statistical analyses of relevant variables. Given the descriptive nature of this registry and the lack of a specific hypothesis to be tested, there is no formal sample size calculation.TOSCA PASS:The primary variable of the TOSCA PASS is the incidence of adverse events, serious adverse events and Votubia®-related adverse events in the observation period.The incidence of AEs and SAEs will be summarized by system organ class and preferred term using the MedDRA dictionary. Similar summaries will also be produced for treatment-related AEs and SAEs. These listings will cover both events that occur during the on-treatment and post-treatment period. Other variables are the following: • Incidence of events of special interest,• Everolimus blood concentration if available.