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).
• 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).
• 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.
• \[for Part 2 only\]
• Not participating in a clinical trial at the time of study enrolment for Part 2.