ORPHA:95430
Congenital tracheomalacia
Also known as: Congenital major airway collapse
Publications
347
71.1th percentile
Trials
5
Interventional, condition-specific
Researchers
1,181
Distinct authors in sample
Gene link
—
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019804
- MeSH:D055090
- UMLS:C0392109
- NCIT:C98634
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
347 matched papers (238 in last 10 years) Source
- Phenotype characterisedPresent
45 HPO annotations (e.g. Laryngomalacia; Cyanosis; Premature birth) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
45
Associated phenotypes · MONDO:0019804
- Laryngomalacia
- Cyanosis
- Premature birth
- Abnormal heart morphology
- Loss of voice
Showing 5 of 45 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
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=3967) is 59.
347 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).
238 in the last 10 years · high confidence · 71.1th percentile (publications denominator)
Phrase hits: 91 · MeSH hits: 263
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.
- 01Bates AJ8 papers · 2024
Center for Pulmonary Imaging Research, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, U.S.A.
Papers in Europe PMC - 02Gunatilaka CC7 papers · 2024
Center for Pulmonary Imaging Research, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, U.S.A.
Papers in Europe PMC - 03Higano NS7 papers · 2024
Center for Pulmonary Imaging Research, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, U.S.A.
Papers in Europe PMC - 04Hysinger 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 - 05Woods JC7 papers · 2024
Center for Pulmonary Imaging Research, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, U.S.A.
Papers in Europe PMC - 06Xiao 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 - 07Majid 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 - 08Schuh A4 papers · 2022
Department of Computing, Imperial College London, London, United Kingdom.
Papers in Europe PMC - 09Zhang Y4 papers · 2026
Department of Thoracic Surgery, The First Affiliated Hospital of Dalian Medical University, Dalian 116011, China.
Papers in Europe PMC - 10Chen 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 11 September 2026
5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).
high confidence · 89.2th 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.
- NCT07240259·ENROLLING BY INVITATION·Feasibility of Tracheobronchial Reconstruction Using Allogenic Aortic Patch in Children
Not reviewed·Conditions: Trachea Diseases · Tracheal Stenosis · Tuberculosis; Tracheitis · Airway Disease·Matched via MeSH
- NCT06335862·ENROLLING BY INVITATION·Primary Posterior Tracheopexy Prevents Tracheal Collapse
Not reviewed·Conditions: Oesophageal Atresia With Tracheo-Oesophageal Fistula · Tracheomalacia · Oesophageal Atresia·Matched via MeSH
- NCT06028646·RECRUITING·Dynamic Airway CT is Diagnostic for Tracheomalacia in Children
Not reviewed·Conditions: Tracheomalacia·Matched via MeSH
- NCT06409299·NOT YET RECRUITING·Enhancing Lung Health in Kids With Structural Lung Damage and Malformations: Azithromycin (AZI) for Airway Infection Prevention
Not reviewed·Conditions: Tracheomalacia · Bronchopulmonary Dysplasia (BPD) · Vascular Ring · Cystic Lung Disease·Matched via MeSH
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.
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 61 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · dropped 0 · fetched 2026-07-30
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 (60)
- isrctn·ISRCTN23993517·No longer recruiting·Study to investigate the nutritional efficacy and tolerance of an infant formula with an added synbiotic mixture in infants
skipped — LLM skipped (--skip-llm)
- ctis·2025-523837-25-00·Authorised·4TAZPower: A Phase 3b/4, Randomized, Double-Blind, Parallel-Group, Placebo-Controlled, Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Patients with Genetically Confirmed Barth Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524282-24-00·Authorised·A Phase 3b, Open-Label Study of Crinecerfont to Evaluate Androgen Reduction and Related Outcomes in Adults With Classic Congenital Adrenal Hyperplasia
skipped — LLM skipped (--skip-llm)
- ctis·2025-524576-28-00·Authorised·Intrathecal Administration of MELPIDA For Hereditary Spastic Paraplegia Type 50 (SPG50): A multicenter Phase 3, Open-Label Trial with Matched Prospective Concurrent Control Arm (CT-MEL-03)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521506-17-01·Authorised·iSTOP-CP: intranasal Stem Cells to treat Perinatal brain injury to combat Cerebral Palsy
skipped — LLM skipped (--skip-llm)
- ctis·2024-514190-21-00·Authorised, ongoing·Long-term Follow-up (LTFU) Study of Participants in any iECURE Protocol Using an Investigational Product
skipped — LLM skipped (--skip-llm)
- ctis·2025-523896-44-00·Authorised·Efanesoctocog alfa treatment in patients with synovitis in congenital hemophilia A: multicenter, randomized, open-label, phase 3 clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523497-16-00·Authorised·TSRA196-AAT-201: A Phase 1/2, Open-Label, Multi-Center, Dose Escalation, Dose Expansion, and Single Repeat Dose Study of TSRA-196 in Adults With the PiZZ Genotype Who Have Lung and/or Liver Disease Associated with Severe Alpha-1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-523109-14-00·Authorised·A prospective, open-label, non-randomized, multicentre trial to assess the safety and PD of Cangrelor as procedural platelet inhibitor in paediatric subjects from birth to <18 years of age undergoing diagnostic and/or therapeutic percutaneous vascular procedures for management of congenital heart disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-522434-32-00·Authorised, recruiting·A MULTICENTER, RANDOMIZED, OPEN-LABEL, PHASE III CLINICAL TRIAL TO EVALUATE THE EFFICACY, SAFETY, PHARMACOKINETICS AND PHARMACODYNAMICS OF NXT007 PROPHYLAXIS VERSUS FACTOR VIII PROPHYLAXIS IN PEOPLE WITH HEMOPHILIA A WITHOUT INHIBITORS
skipped — LLM skipped (--skip-llm)
- ctis·2024-518043-38-00·11·MOOD - MethOxyflurane analgesia in vasoOcclusive crises of sickle cell Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524423-50-00·Authorised·An open-label, single-arm, phase 1/2 first-in-human study to assess the safety and efficacy of autologous CD34+ cells transduced with a lentiviral vector encoding the human NCF1 gene (SGX-001) in paediatric and adult patients with chronic granulomatous disease caused by p47phox deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-523400-72-00·Authorised·A Phase 2, Randomized, Double-blind, Controlled Study to Evaluate the Safety and Efficacy of VX‑828/Deutivacaftor With and Without Tezacaftor in Subjects Aged 18 Years and Older With Cystic Fibrosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-522964-33-00·Authorised·A Phase 4, Multicenter, Double-blind, Study to Investigate the Efficacy, Safety, and Tolerability of 3 Active Doses of Respreeza® / Zemaira® Weekly Intravenous Infusions Administered over 3 Years as Longterm Maintenance Therapy in Adult Subjects with Emphysema Related to Alpha1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-524995-53-00·Authorised·Reproductive outcomes with letrozole co-treatment during ovarian stimulation in women with endometriosis undergoing IVF/ICSI: a randomised, multicentre, parallel group pragmatic trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-525073-37-00·Revoked·A study to investigate the safety, tolerability, pharmacokinetics, immunogenicity and pharmacodynamics of a single subcutaneous dose of GSK4771261 in healthy participants aged 25 to 55 years of age inclusive
skipped — LLM skipped (--skip-llm)
- ctis·2025-523811-12-00·Authorised·A Multicenter, Randomized, Operationally Seamless Phase 2/3 Study to Evaluate the Efficacy and Safety of BMN 333 versus Vosoritide in Children with Achondroplasia
skipped — LLM skipped (--skip-llm)
- ctis·2025-521154-42-00·Authorised, recruiting·Phase 2a, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety of Anumigilimab (CSL324) in Adults with Sickle Cell Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-523738-21-00·Authorised·Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of MRM-3379 in Male Participants with Fragile X Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-523793-16-00·Authorised, recruiting·A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind Study of the Efficacy and Safety of Vamifeport in Adult Subjects with HFE-related Hereditary Hemochromatosis (FERROCLEAR Study)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523558-14-00·Authorised·A Phase 1 Study of AIR-001 in Adults with AATD.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521628-31-00·Authorised·A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects with Friedreich’s Ataxia
skipped — LLM skipped (--skip-llm)
- ctis·2025-523509-13-00·Authorised, ongoing·Phase 2, Open-Label, Long-Term, Extension (OLE) Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children with Hypochondroplasia: ACCEL OLE
skipped — LLM skipped (--skip-llm)
- ctis·2025-523157-34-00·Authorised, recruiting·A Phase 3 randomized, double-blind, placebo-controlled, parallel group, multicenter study with open-label extension to evaluate the efficacy and safety of fenfluramine hydrochloride in study participants with Rett syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524195-29-00·Authorised·A randomized, placebo-controlled trial to assess the efficacy, tolerability, and pharmacokinetics of clemastine in children and adults with Pitt-Hopkins syndrome
skipped — LLM skipped (--skip-llm)
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 Congenital tracheomalacia — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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"
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