RecruitingPhase 2 / Phase 3NCT06953466
Dermatological
Netherton Syndrome
Also known as ichthyosis linearis circumflexa, trichorrhexis invaginata, SPINK5 deficiency
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
5
studies recruiting now
as of 7 Sept 2026
23
studies registered in total
as of 7 Sept 2026
5
countries with a recruiting site
as of 7 Sept 2026
20 Apr 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 2 / Phase 3NCT05789056
Open Label, Safety and Efficacy Study of QRX003 Lotion in Subjects With Netherton Syndrome
RecruitingPhase 1NCT06539507
A Study of the Safety, Tolerability, Pharmacokinetics, and Immunogenicity of BCX17725
RecruitingNCT07280091
Study of Skin and Gut Microbiome in a Skin Condition Involving Skin Barrier Impairment and Allergic Symptoms: Netherton Syndrome
RecruitingPhase 2 / Phase 3NCT07538583
Phase 2/3 Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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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 microscopySparse, brittle, easily broken hair on the scalp, eyebrows, and eyelashesSevere atopic disease: recalcitrant eczema, markedly elevated serum IgE, and multiple food sensitivitiesRecurrent anaphylaxis and risk of life-threatening allergic reactions to food allergensFailure to thrive, hypernatraemic dehydration, and sepsis in neonates and infants from skin barrier failureRecurrent bacterial skin infections (Staphylococcus aureus) due to severely compromised epidermal barrier
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 6 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Iofetamine Hydrochloride I 123 (Spectamine)
Phase 2/3Dupilumab (Dupixent)
Phase 2/3Spesolimab (Spevigo)
Phase 2Pavinetant
Phase 2Adalimumab (Amgevita)
Phase 1/2Ds-2325a
Phase 1/2Pimecrolimus (Elidel)
Before you apply
Things trial teams commonly ask about for Netherton Syndrome. Not eligibility rules; those are set by each study.
- 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.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).