Non-interventional study of patients with Netherton Syndrome to characterise the natural history of disease (Natural history of Netherton Syndrome)

Study type

• Study type:
  Non-interventional study
• Scope of the study:
  Disease epidemiology

Non-interventional study

• Non-interventional study design:
  Cohort

Study drug and medical condition

• Medical condition to be studied:
  Netherton's syndrome

Population studied

• Age groups:
  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)
• Estimated number of subjects:
  100

Study design details

• Main study objective:
  Primary objective: To assess severity of NS by the Ichthyosis Area Severity Index (IASI). Secondary objective: To assess severity of NS by the Investigator Global Assessment – Netherton Syndrome (IGA-NS).
• Outcomes:
  IASI and its two subscales (IASI-E erythema and IASI-S scaling), Total score of IGA-NS.
• Data analysis plan:
  There is no pre-specified hypothesis to be tested. Data analysis will be descriptive. Quantitative variables will be summarised by number of non-missing values (N), mean, standard deviation (SD), standard error of the mean (SE), minimum (min), median, and maximum (max). Categorical variables will be summarised by counts and percentages for each category. The primary and secondary outcomes will be analysed descriptively on the overall population as well as for any subgroups deemed appropriate and informative. Annualised incidence of flares will be calculated overall and for the above subgroups.