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Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.
GeneticsAutosomal recessive · SPINK5 (chr 5)
TreatmentsNo approved treatments · 7 in pipeline
Clinical Trials8 registered · 4 recruiting
Clinical Presentation
Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
Features include always present findings: Spongiosis, Pustular rash, Hearing loss (hearing impairment), and Aminoaciduria and others; and very common findings: Allergic rhinitis, Trichorrhexis invaginata, Increased circulating IgE concentration, and Sparse hair and others. 100 total HPO annotations.
Villous atrophy, Low muscle tone (hypotonia), Appendicular hypotonia
Growth and development
1
Short stature
Lab test results
1
Increased circulating IgE concentration
Eyes
1
Conjunctivitis
Metabolism
1
Recurrent fever
Heart and blood vessels
1
Bacterial endocarditis
Head and neck
1
Facial edema
Explore clinical features
Genetic Landscape
SPINK5 function has not been fully characterized.
Netherton syndrome is associated with mutations in the SPINK5 gene on chromosome 5.
Diagnosis
Genetic testing for SPINK5 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Netherton syndrome has been reported in the published literature.
Treatment
Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.
No approved treatments are currently available for Netherton syndrome. An additional 7 compounds hold orphan drug designation.
Orphan Drug Designations
While no drugs are FDA-approved specifically for Netherton syndrome, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.
The following drugs have received orphan drug designation from the FDA for Netherton syndrome. Orphan designation reflects regulatory interest and does not indicate approval for treatment.
Brand Name
Generic Name
Sponsor
Designated
Exclusivity End
Designation Status
dipalmitoyl hydroxyproline
dipalmitoyl hydroxyproline
Quoin Pharmaceuticals, Ltd.
2025
—
Designated
an engineered bacteria secreting a protease inhibitor that inhibit kallikrein 5 (KLK5)
an engineered bacteria secreting a protease inhibitor that inhibit kallikrein 5 (KLK5)
ResVita Bio, Inc.
2025
—
Designated
Spesolimab-sbzo
Spesolimab-sbzo
Boehringer Ingelheim Pharmaceuticals, Inc
2024
—
Withdrawn
a fusion protein comprised of genetically engineered human serine peptidase inhibitor and human immunoglobulin G1 Fc
a fusion protein comprised of genetically engineered human serine peptidase inhibitor and human immunoglobulin G1 Fc
Phenotype severity distribution: 62 always present features, 7 very common features, 16 common features.
Estimated prevalence: 1-9 in 1,000,000 (Rare).
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
8 clinical trials registered, 4 recruiting. Interventions under study include drug therapy, other interventions, and biologic therapy. Pipeline includes 4 PHASE2, 2 PHASE1. Research is sponsored by a mix of industry and academic institutions.
Evaluation of Topical ATR12-351 in Adults With Netherton Syndrome
PHASE1
Azitra Inc.
UNKNOWN
76 publications have been identified in PubMed for Netherton syndrome. Research spans Review / Meta-Analysis (29%), Case Report / Case Series (29%), and Other (16%).
Recent research highlights that in-depth curation of the Human Phenotype Ontology significantly enhances prioritization performance for Netherton Syndrome. This advancement could improve diagnostic accuracy and patient outcomes for those affected by this rare condition.
Las Vegas Nevada United States As per DelveInsight s assessment globally Netherton Syndrome pipeline constitutes 5 key companies continuously working towards developing 5 Netherton Syndrome treatment therapies analysis of Clinical Trials Therapies Mechanism of Action Route of Administration ... Las Vegas Nevada United States As per DelveInsight s assessment globally Netherton Syndrome pipeline constitutes 5 key companies continuously working towards developing 5 Netherton Syndrome treatment therapies analysis of Clinical Trials Therapies Mechanism of Action Route of Administration and Developments ... This represents an important milestone as Quoin progresses its therapeutic candidate into late-stage clinical development. • In April 2025, ResVita Bio, a therapeutics company specializing in skin disease treatments, announced that the FDA has granted Orphan Drug Designation to RVB-003 for Netherton Syndrome, a serious and chronic skin disorder. Building on the FDA's earlier Rare Pediatric Disease Designation, this milestone highlights ResVita Bio's innovative continuous protein therapy platform, which delivers sustained drug levels directly to the skin, offering enhanced efficacy and improved safety compared to conventional topical treatments. • Netherton Syndrome companies working in the treatment market are Quoin Pharmaceutical, Boehringer Ingelheim, LifeMax Laboratories, Novartis, Daiichi Sankyo, Quoin Pharmaceuticals, Children's Hospital of Philadelphia, and others, are developing therapies for the Netherton Syndrome treatment • Emerging Netherton Syndrome therapies in the different phases of clinical trials are- QRX003, SPEVIGO (spesolimab/BI 655130), LM-030 (BPR277), DS-2325a, Pimecrolimus, and others are expected to have a significant impact on the Netherton Syndrome market in the coming years. • In March 2026, Quoin Pharmaceuticals Ltd. (NASDAQ: QNRX), a late-stage specialty pharmaceutical company focused on rare and orphan diseases, announced a clinical and regulatory update following a constructive Type C meeting with the U.S. Press release - DelveInsight Business Research - Netherton Syndrome Pipeline 2026: FDA Updates, Therapy Innovations, and Clinical Trial Landscape Analysis by DelveInsight - published on openPR.com
NETHERTON NOW's campaign for Rare Disease Day has garnered nearly 2 million video views, significantly raising awareness for Netherton Syndrome. This initiative empowers patients and families to share their experiences, fostering a deeper understanding of the disease within the medical and advocacy communities.
