Natural History of Netherton Syndrome

Non-interventional Study of Patients With Netherton Syndrome to Characterise the Natural History of Disease

The goal of this non-interventional study (NIS) is to collect real-world data to describe the natural history of Netherton Syndrome (NS).

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) in skin 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. Patient who has died prior to 2002.
2. Patient whose last known survival status is dated prior to 2002 (i.e., patient has been lost to clinical follow-up since 2002).