ORPHA:137920
Choanal atresia, bilateral
Publications
40
37.1th percentile
Trials
0
Interventional, condition-specific
Researchers
381
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, usually sporadic, nose and cavum anomaly characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. It is caused by blockade of the nose on both sides by bony or soft tissue formed during embryological development.
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:0015313
- UMLS:C4025317
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
40 matched papers (22 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- 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 trialPartial
None under the specific name; 2 for broader category choanal atresia
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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
40
40 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.
40 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).
22 in the last 10 years · high confidence · 37.1th percentile (publications denominator)
Phrase hits: 40 · MeSH hits: 0
Who's working on it?
381
Distinct author names in 40 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Beaulieu C2 papers · 2016
Department of Genetics (Daoud, Luco, Beaulieu, Jarinova, Carson, Nikkel, Graham, Richer, Armour, Boycott, Dyment) and Department of Pediatrics (Bulman, Chakraborty, Geraghty, Lines, Lacaze-Masmonteil), Children's Hospital of Eastern Ontario, Ottawa, Ont.; McGill University (Li, Bareke, Majewski) and Genome Quebec Innovation Centre (Li, Bareke, Majewski), Montréal, Que.
Papers in Europe PMC - 02Bernabeu J2 papers · 2009Papers in Europe PMC
- 03Bernat JA2 papers · 2018
Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Papers in Europe PMC - 04Bielas SL2 papers · 2018
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA. sbielas@umich.edu.
Papers in Europe PMC - 05Boycott KM2 papers · 2016
Department of Genetics (Daoud, Luco, Beaulieu, Jarinova, Carson, Nikkel, Graham, Richer, Armour, Boycott, Dyment) and Department of Pediatrics (Bulman, Chakraborty, Geraghty, Lines, Lacaze-Masmonteil), Children's Hospital of Eastern Ontario, Ottawa, Ont.; McGill University (Li, Bareke, Majewski) and Genome Quebec Innovation Centre (Li, Bareke, Majewski), Montréal, Que.
Papers in Europe PMC - 06Bulman DE2 papers · 2016
Department of Genetics (Daoud, Luco, Beaulieu, Jarinova, Carson, Nikkel, Graham, Richer, Armour, Boycott, Dyment) and Department of Pediatrics (Bulman, Chakraborty, Geraghty, Lines, Lacaze-Masmonteil), Children's Hospital of Eastern Ontario, Ottawa, Ont.; McGill University (Li, Bareke, Majewski) and Genome Quebec Innovation Centre (Li, Bareke, Majewski), Montréal, Que.
Papers in Europe PMC - 07Ferrer I2 papers · 2009Papers in Europe PMC
- 08Lines MA2 papers · 2016
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ontario, Canada.
Papers in Europe PMC - 09Majewski J2 papers · 2016
Department of Genetics (Daoud, Luco, Beaulieu, Jarinova, Carson, Nikkel, Graham, Richer, Armour, Boycott, Dyment) and Department of Pediatrics (Bulman, Chakraborty, Geraghty, Lines, Lacaze-Masmonteil), Children's Hospital of Eastern Ontario, Ottawa, Ont.; McGill University (Li, Bareke, Majewski) and Genome Quebec Innovation Centre (Li, Bareke, Majewski), Montréal, Que.
Papers in Europe PMC - 10Martin DM2 papers · 2018
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA. donnamm@umich.edu.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 2 trials are registered for choanal atresia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
2 interventional trials matched choanal atresia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: choanal atresia
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07173023·NOT YET RECRUITING·A Comparative Study of Endoscopic Choanal Canalization and Mitomycin C Application vs Endoscopic Crossover Flap Technique
Conditions: Choanal Atresia·Matched via name phrase
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 42 · after dedupe 42 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 42 · 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 (42)
- ctis·2026-525162-21-00·Authorised·A Phase 2a, multi centric, open label clinical study to explore the safety and tolerability, the pharmacokinetics and pharmacodynamics profile and first signs of efficacy of PTI5803 administered as adjunctive therapy with a 3-dose escalation regimen in patients >= 14 years of age with drug-resistant seizures associated to focal cortical dysplasia, followed by an optional open-label extension study.
skipped — LLM skipped (--skip-llm)
- ctis·2023-507010-27-00·Authorised·CUSHMAH - Benefit of steroidogenesis inhibitors in Mild Cushing syndrome (Mild Autonomous Cortisol Secretion): a randomized trial in patients with Primary Bilateral Macronodular Adrenocortical Hyperplasia
skipped — LLM skipped (--skip-llm)
- ctis·2024-518072-31-00·Authorised, ongoing·Phase 2b, Randomized, Double-Blind, Placebo-Controlled Clinical Trial, Preceded by a Single Ascending Dose Portion and a Phase 2 Open-Label Portion, to Evaluate the Safety and Efficacy of Oral Infigratinib in Infants and Young Children with Achondroplasia
skipped — LLM skipped (--skip-llm)
- ctis·2025-522575-29-00·Authorised, recruiting·Evaluation of the persistency of the preoperative anxiolytic effect of music therapy vs midazolam: electroencephalographic and clinical analysis
skipped — LLM skipped (--skip-llm)
- ctis·2025-523339-20-00·Authorised, ongoing·A dose-ranging randomized, open-label study evaluating the effect of bilateral intravitreal injection of GS010 at two dose levels on visual acuity and retinal mitochondrial activity in patients affected with ND4 Leber Hereditary Optic Neuropathy – The REVISE Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-522719-40-00·Authorised, ongoing·GAIN-CTNNB1: A Phase I/II open-label trial to evaluate the safety, tolerability, and preliminary efficacy of a single intracerebroventricular administration of an AAV9-based gene replacement therapy in paediatric patients with CTNNB1 syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-522135-34-00·Authorised, ongoing·The effect of a superficial parasternal intercostal plane block in cardiac surgical patients undergoing conventional median sternotomy: a multicentric, double-blind, prospective, randomized controlled superiority trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515978-27-00·Authorised·Vitamin D as add-on treatment option of pneumonia and sepsis in elderly subjects (TreatViD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516924-32-00·Authorised, ongoing·A phase IIIb, Multicenter, Single-Arm Study Assessing the Effectiveness, Safety and Patient Reported Outcomes of a 36-week Refill Exchange Regimen for the Port Delivery System with Ranibizumab in Patients with Neovascular Age-Related Macular Degeneration
skipped — LLM skipped (--skip-llm)
- ctis·2024-519555-28-00·Authorised, recruiting·EMPEROR: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel Group, Phase 3 Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen (STK-001) in Patients with Dravet Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-520619-15-00·Authorised, ongoing·Efficacy of Bilateral Greater Occipital Nerve Block as a Treatment for Headache Secondary to Spontaneous Subarachnoid Hemorrhage
skipped — LLM skipped (--skip-llm)
- ctis·2024-516148-24-00·Authorised, ongoing·A phase III, randomized, double-blinded study of the efficacy and safety of LEvetiracetam to prevent Seizures in Symptomatic Alzheimer's Disease in adults with Down syndrome (the LESS-AD trial).
skipped — LLM skipped (--skip-llm)
- ctis·2024-515861-33-00·Authorised, recruiting·A Phase 2, Randomized, Multicenter, Study of Vosoritide in Children with Noonan Syndrome with Inadequate Growth During or After Human Growth Hormone Treatment
skipped — LLM skipped (--skip-llm)
- ctis·2024-518932-34-00·Authorised, ongoing·Effect of metyrapone on cardiovascular risk factors in patients with adrenal incidentalomas and subclinical/mild Cushing's syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2023-509341-12-00·Authorised, ongoing·AN OPEN LABEL, RANDOMISED, CONTROLLED CLINICAL TRIAL TO ASSESS THE SAFETY OF ENDOBRONCHIAL ADMINISTRATION OF ALLOGENEIC MESENCHYMAL STROMAL CELLS IN PATIENTS WITH LUNG TRANSPLANT CHRONIC REJECTION: Study ENDOSC-CLAD
skipped — LLM skipped (--skip-llm)
- ctis·2024-518147-37-00·Authorised·Upper-limb Active Function and Botulinum Toxin A
skipped — LLM skipped (--skip-llm)
- ctis·2024-512968-57-00·Authorised, ongoing·RESTART; Autologous Transplantation of Adult Salivary Gland Stem Cells to Restore Submandibular Gland Function after Radiotherapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-513939-24-00·Authorised, ongoing·Cultured Autologous Oral Mucosa Epithelial sheet for the Treatment of Bilateral Limbal Stem Cell Deficiency FEMJA for « Feuillet Epithélial de Muqueuse Jugale Autologue »
skipped — LLM skipped (--skip-llm)
- ctis·2024-517275-21-00·Authorised, ongoing·"RETINO 2011" : Conservative treatment of patients with retinoblastoma
skipped — LLM skipped (--skip-llm)
- ctis·2024-513371-41-00·Authorised, ongoing·UVB : Multicenter, randomized, prospective trial comparing the Efficacy and Safety of Adalimumab to that of Tocilizumab in severe uveitis of Behçet’s disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-511261-11-00·Cancelled·A randomized Phase 2, double-blind, placebo-controlled, parallel-group, 2-arm study to assess the efficacy, safety, and tolerability of subcutaneous lunsekimig in adult participants with chronic rhinosinusitis with nasal polyps (CRSwNP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511665-11-00·Cancelled·(22578) An open-label, non-randomized, multi-center, phase 4 pharmacokinetic study to evaluate the systemic exposure after bilateral intravitreal administration of high dose (8 mg) aflibercept in adults with diabetic macular edema or neovascular age-related macular degeneration
skipped — LLM skipped (--skip-llm)
- ctis·2024-513079-42-00·Expired·SENTIRAD-1502 - RANDOMIZED STUDY COMPARING SENTINEL NODE (SN) POLICY TO CURRENT FRENCH INITIAL STAGING PROTOCOLS IN EARLY STAGE ENDOMETRIAL CARCINOMAS AT INTERMEDIATE AND HIGH RISK OF RECURRENCE
skipped — LLM skipped (--skip-llm)
- ctis·2024-512628-12-00·Authorised, ongoing·CXCR4-directed [68Ga]Ga-PentixaFor PET/CT vs AVS performance in a diagnoStic randomized Trial Ultimately comparing hypertenSion outcome in primary aldosteronism (CASTUS trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511766-37-00·Expired·A Phase Ib/II Randomized, Double-Blind Study to Explore Safety, Tolerability, and Efficacy Signals of Multiple Doses of Striatally-Administered rAAV5-miHTT Total Huntingtin Gene (HTT) Lowering Therapy (AMT‑130) in Early Manifest Huntington Disease
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 Choanal atresia, bilateral — 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.
"Choanal atresia, bilateral"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Choanal atresia, bilateral"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"choanal atresia"
Query health: ok — strategies attempted: phrase; with hits: phrase
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 2026-07-27T07:32:38.123Z