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ORPHA:634

Netherton syndrome

low confidenceDisorder

Also known as: Bamboo hair syndrome · Comèl-Netherton syndrome · NS

Publications

2,570

Trials

18

Interventional, condition-specific

Researchers

1,164

Distinct authors in sample

Gene link

SPINK5

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Netherton syndrome (NS) is a skin disorder characterized by ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

Ichthyosis, Netherton Syndrome · bamboo hair syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SPINK5

  2. LiteraturePresent

    2,570 matched papers (1,757 in last 10 years) Source

  3. Phenotype characterisedPresent

    179 HPO annotations (e.g. Eczematoid dermatitis; Dry skin; Congenital nonbullous ichthyosiform erythroderma) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    4 EMA designations (none yet with FDA orphan-indication approval) — e.g. recombinant kallikrein inhibitor Source

  6. Interventional trialPresent

    18 matched on ClinicalTrials.gov (5 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (SPINK5).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

179

Associated phenotypes · MONDO:0009735

  • Eczematoid dermatitis
  • Dry skin
  • Congenital nonbullous ichthyosiform erythroderma
  • Intellectual disability
  • Skin rash

Showing 5 of 179 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

4

Designations · no FDA orphan-indication approval yet

  • EMA recombinant kallikrein inhibitorTreatment of Netherton syndrome · 29/01/2010 · PositiveEMA designation
  • EMA Dipalmitoyl hydroxyprolineTreatment of Netherton syndrome · 20/06/2025 · PositiveEMA designation
  • EMA 6-ethoxy-7-methoxy-2-(2-methylsulfanylphenyl)-3,1-benzoxazin-4-oneTreatment of Netherton syndrome · 19/03/2015 · PositiveEMA designation
  • EMA (S)-2-isobutyrylamino-pentanedioic acid 5-amide 1-{[(2S,5S,8S,11R,12S,15S,18S,21R)-2,8-bis-((S)-sec-butyl)-21-hydroxy-5-(4-hydroxy-benzyl)-15-isobutyl-4,11-dimethyl-3,6,9,13,16,22-hexaoxo-10-oxa-1,4,7,14,17-pentaaza-bicyclo[16.3.1]docos-12-yl]-amide}Treatment of Netherton syndrome · 17/10/2019 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

7

Drugs / clinical candidates · MONDO_0009735

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,570

2,570 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,570 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,757 in the last 10 years · low confidence

Phrase hits: 1,333 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,164

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Bodemer C8 papers · 2026

    Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker-Enfants Malades Hospital (AP-HP5), Imagine Institute, INSERM, Paris-Centre University, Paris, France.

    Papers in Europe PMC
  2. 02
    Fischer J7 papers · 2026

    European Reference Networks (ERN Skin), 75015 Paris, France.

    Papers in Europe PMC
  3. 03
    Liu Y7 papers · 2026

    Institute of Dermatology, Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  4. 04
    Paller AS7 papers · 2026

    Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

    Papers in Europe PMC
  5. 05
    Akiyama M6 papers · 2025

    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

    Papers in Europe PMC
  6. 06
    Pasmans SGMA6 papers · 2026

    Department of Dermatology, Center of Pediatric Dermatology, Erasmus MC University Medical Center Rotterdam-Sophia Children's Hospital, Rotterdam, The Netherlands.

    Papers in Europe PMC
  7. 07
    Süßmuth K6 papers · 2026

    Klinik für Hautkrankheiten, Universitätsklinik Münster, 48149 Münster, Germany.

    Papers in Europe PMC
  8. 08
    Traupe H6 papers · 2026

    Department of Dermatology, University Hospital of Münster, Münster, Germany.

    Papers in Europe PMC
  9. 09
    Castagnoli R5 papers · 2026

    Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.

    Papers in Europe PMC
  10. 10
    Gostynski A5 papers · 2026

    Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

18

interventional trials for this specific condition

18 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

18 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.5th percentile).

low confidence · 94.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

18 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (7)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Netherton syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Netherton syndrome" OR "Bamboo hair syndrome" OR "Comèl-Netherton syndrome" OR "Ichthyosis, Netherton Syndrome") OR ("SPINK5" OR "SPINK5 syndrome" OR "SPINK5-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Netherton syndrome" OR "Bamboo hair syndrome" OR "Comèl-Netherton syndrome" OR "Ichthyosis, Netherton Syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 18 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: NS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:38:53.457Z