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ORPHA:652681

Idiopathic subglottic stenosis

medium confidenceDisorder

Also known as: iSGS

Publications

354

84.3th percentile

Trials

3

Interventional, condition-specific

Researchers

877

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare otorhinolaryngologic disease characterized by recurrent and severe obstruction of the central airway in the region bounded superiorly by a plane below the glottis and inferiorly by the first two tracheal rings. Symptoms may involve respiratory distress, dysphonia, exertional dyspnea, stridor, chronic cough and wheezing. Diagnosis is challenging due to the lack of apparent and nonspecific respiratory symptoms that can be confounded with other common respiratory diseases and may also occur in late course of the disease. Thorough clinical and laboratory evaluation aims to exclude other causes of subglottic stenosis is therefore essential. Affected patients are almost exclusively Caucasian women between 30-60 years old.

Orphanet entry

Cross-references

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

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.”

2/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    354 matched papers (291 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (2 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

354

354 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

354 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

291 in the last 10 years · medium confidence · 84.3th percentile (publications denominator)

Phrase hits: 354 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

877

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
    Gelbard A37 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, Tennessee.

    Papers in Europe PMC
  2. 02
    Hillel AT30 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins Medical Institution, Baltimore, Maryland.

    Papers in Europe PMC
  3. 03
    Francis DO17 papers · 2025

    Department of Otolaryngology-Head and Neck Surgery, Head and Neck Institute, Cleveland Clinic, Cleveland, Ohio.

    Papers in Europe PMC
  4. 04
    Ekbom DC15 papers · 2026

    Department of Otolaryngology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota.

    Papers in Europe PMC
  5. 05
    Bowen AJ14 papers · 2026

    Department of Otorhinolaryngology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  6. 06
    Edell ES14 papers · 2026

    Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC
  7. 07
    Dailey SH11 papers · 2026

    Department of Surgery, University of Wisconsin Hospitals and Clinics, Madison.

    Papers in Europe PMC
  8. 08
    Anderson C10 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, Tennessee.

    Papers in Europe PMC
  9. 09
    Bayan SL10 papers · 2026

    Department of Otorhinolaryngology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  10. 10
    Kasperbauer JL10 papers · 2024

    Department of Otolaryngology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

medium confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Idiopathic subglottic stenosis"

Run this search on Europe PMC

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

"Idiopathic subglottic stenosis"

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: 3 interventional · 1 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: iSGS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T19:57:48.380Z