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ORPHA:95430

Congenital tracheomalacia

high confidenceDisorder

Also known as: Congenital major airway collapse

Publications

347

81.2th percentile

Trials

5

Interventional, condition-specific

Researchers

1,181

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Congenital Tracheomalacia · congenital major airway collapse · congenital tracheomalacia · tracheomalacia, congenital

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

    347 matched papers (238 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

    5 matched on ClinicalTrials.gov (4 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?

347

347 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.

347 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).

238 in the last 10 years · high confidence · 81.2th percentile (publications denominator)

Phrase hits: 91 · MeSH hits: 263

Open Europe PMC search

Who's working on it?

1,181

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
    Bates AJ8 papers · 2024

    Center for Pulmonary Imaging Research, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, U.S.A.

    Papers in Europe PMC
  2. 02
    Gunatilaka CC7 papers · 2024

    Center for Pulmonary Imaging Research, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, U.S.A.

    Papers in Europe PMC
  3. 03
    Higano NS7 papers · 2024

    Center for Pulmonary Imaging Research, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, U.S.A.

    Papers in Europe PMC
  4. 04
    Hysinger EB7 papers · 2024

    Division of Pulmonary Medicine, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104. Electronic address: Hysingere@email.chop.edu.

    Papers in Europe PMC
  5. 05
    Woods JC7 papers · 2024

    Center for Pulmonary Imaging Research, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, U.S.A.

    Papers in Europe PMC
  6. 06
    Xiao Q5 papers · 2024

    Division of Pulmonary Medicine, Center for Pulmonary Imaging Research, Cincinnati Children's Hospital, Cincinnati, OH, United States of America.

    Papers in Europe PMC
  7. 07
    Majid A4 papers · 2026

    Division of Thoracic Surgery and Interventional Pulmonology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215, USA.

    Papers in Europe PMC
  8. 08
    Schuh A4 papers · 2022

    Department of Computing, Imperial College London, London, United Kingdom.

    Papers in Europe PMC
  9. 09
    Zhang Y4 papers · 2026

    Department of Thoracic Surgery, The First Affiliated Hospital of Dalian Medical University, Dalian 116011, China.

    Papers in Europe PMC
  10. 10
    Chen Y3 papers · 2025

    Endoscopy Center, Shaanxi Provincial Cancer Hospital Affiliated to Xi'an Jiaotong University, No. 309 Yanta West Road, Xi'an City, Xi'an, Shaanxi, 710061, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

high confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

2 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.

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.

"Congenital tracheomalacia" OR "Congenital major airway collapse" OR "tracheomalacia, congenital"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Tracheomalacia

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

"Congenital tracheomalacia" OR "Congenital major airway collapse" OR "tracheomalacia, congenital" OR "Tracheomalacia"

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

Study-type breakdown: 5 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T04:42:25.396Z