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

Study type

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

Population studied

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

    • Neonate

      • 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)
• Estimated number of subjects:
  100

Study design details

• Study design:
  retrospective and prospective cohort
• 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).
• Setting:
  Inclusion criteria [for Part 1 and Part 2]; 1. Confirmed diagnosis of NS by at least one of the following:; Genetic testing of mutations in Serine Protease Inhibitor of Kazal Type 5 (SPINK5);; Absence or major deficiency of the protein Lympho-Epithelial Kazal-Type-Related Inhibitor (LEKTI) inskin biopsy;; Clinical assessment (signs and symptoms).; 2. Provision of consent or assent (i.e., by parent or legal guardian) as required by local regulations:; [Part 1] to authorise access to existing medical records for study data collection;; [Part 2] to participate in the longitudinal 52-week evaluation of disease severity and clinical outcome assessments.; [for Part 2 only] 3. Not participating in a clinical trial at the time of study enrolment for Part 2.; Exclusion criteria [for Part 1 and Part 2]; 1. Deceased patients and patients whose survival status are not known, who were diagnosed prior to 2002.
• Comparators:
  N/A
• 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.