Disease registry for patients with Niemann-Pick Type C disease (NPC Registry)

Study type

• Study topic:
  Disease /health condition
• Study type:
  Non-interventional study
• Scope of the study:
  Disease epidemiology

  Drug utilisation

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

Non-interventional study

• Non-interventional study design:
  Cohort

Study drug and medical condition

• Medical condition to be studied:
  Niemann-Pick disease

Population studied

• Short description of the study population:
  Patients with Niemann-Pick disease. Patients and/or legal guardian must be willing to give written informed consent.
• Age groups:
  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)

  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:
  Other
• Special population of interest, other:
  Niemann-Pick disease patients
• Estimated number of subjects:
  463

Study design details

• Main study objective:
  The objectives for all enrolled patients are to describe the natural history/disease course and clinical outcomes and to describe the treatment experience, including longitudinal assessment of outcomes. The objectives for Zavesca-treated patients only are to educate the prescribers on the Zavesca prescribing information, to observe adherence to it and to solicit adverse event reporting.
• Outcomes:
  Measures of outcome and long-term changes in outcome will be summarized for all patients and further summarized by treatment group, by diagnosis status and severity at enrolment.- For all patients: Change in the disability status- For Zavesca treated patients: Occurrence of specific safety information and physician’s report on adherence to the prescribing information.
• Data analysis plan:
  Modeling techniques will be used to explore the relationship between potential prognostic factors, treatment and outcomes, and the resulting inferential statistics will be presented. Potential candidate covariates include age at diagnosis, duration of disease since diagnosis, and severity of the disease.