Netherton Syndrome Clinical Trials 2026 — Find Recruiting Studies

About Netherton Syndrome

Netherton syndrome is a severe autosomal recessive ichthyosis caused by loss-of-function mutations in SPINK5, encoding the serine protease inhibitor LEKTI. LEKTI deficiency results in uncontrolled kallikrein serine protease activity in the epidermis, causing defective skin barrier function, generalised ichthyosis, and severe atopic disease. The condition is characterised by the diagnostic triad of ichthyosis linearis circumflexa, the pathognomonic bamboo-hair shaft defect (trichorrhexis invaginata), and a severe atopic diathesis with elevated IgE, food allergies, and anaphylaxis.

Common Clinical Features

Generalised erythroderma from birth with lifelong widespread, migratory, polycyclic scaling plaques (ichthyosis linearis circumflexa) Trichorrhexis invaginata (bamboo hair): diagnostic hair shaft defect characterised by ball-and-socket invaginations visible on dermoscopy and light microscopy Sparse, brittle, easily broken hair on the scalp, eyebrows, and eyelashes Severe atopic disease: recalcitrant eczema, markedly elevated serum IgE, and multiple food sensitivities Recurrent anaphylaxis and risk of life-threatening allergic reactions to food allergens Failure to thrive, hypernatraemic dehydration, and sepsis in neonates and infants from skin barrier failure Recurrent bacterial skin infections (Staphylococcus aureus) due to severely compromised epidermal barrier

Clinical Trial Eligibility Tips

What to know before applying to Netherton Syndrome trials.

SPINK5 mutation confirmation is required for most trials; genetic testing must show biallelic pathogenic variants — single heterozygous findings are insufficient for diagnosis.

Baseline serum IgE level and skin barrier assessments (TEWL measurements) are standard eligibility and outcome measures; ensure recent laboratory values are within the protocol-specified window.

Dupilumab and biologics targeting IL-4/IL-13 or IL-31 may be part of ongoing treatment; document current biologic use as many trials require washout or specifically enrol biologic-naive patients.