ORPHA:137917
Choanal atresia, unilateral
Publications
11
16.4th percentile
Trials
0
Interventional, condition-specific
Researchers
85
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, usually, sporadic anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015312
- UMLS:C5680630
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
11 matched papers (3 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?
11
11 papers have ever been indexed 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.
11 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).
3 in the last 10 years · high confidence · 16.4th percentile (publications denominator)
Phrase hits: 11 · MeSH hits: 0
Who's working on it?
85
Distinct author names in 11 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.
- 01Lin AE2 papers · 2014
Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.
Papers in Europe PMC - 02Abdul Cader SH1 paper · 2019
Department of ENT, Sur Hospital, South Sharqiya Region, Sur, Sultanate of Oman.
Papers in Europe PMC - 03Adachi M1 paper · 2009Papers in Europe PMC
- 04Aida N1 paper · 2009Papers in Europe PMC
- 05Al-Noury K1 paper · 2011
Department of Otolaryngology, King Abdulaziz University, P.O. Box 35135, Jeddah 21488, Saudi Arabia.
Papers in Europe PMC - 06Asakura Y1 paper · 2009Papers in Europe PMC
- 07Bacino CA1 paper · 2006Papers in Europe PMC
- 08Battelino S1 paper · 2023
Department of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Papers in Europe PMC - 09Belmont JW1 paper · 2006Papers in Europe PMC
- 10Bergé S1 paper · 2019
Department of Oral and Maxillofacial Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
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 21 · after dedupe 21 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 21 · 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 (21)
- ctis·2024-519515-34-00·Authorised·L-Thyroxine for the treatment of acute unilateral vestibulopathy (AUVP): a monocentric, double-blind, placebo-controlled trial (T4U)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521163-12-01·Authorised·The use of [68Ga]Ga-FAPI PET/MRI in assessing disease activity in patients with Graves’ orbitopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-513710-35-00·Authorised·SERORL Effect of aspirin and folic acid for sudden sensorineural hearing loss
skipped — LLM skipped (--skip-llm)
- ctis·2024-519832-17-00·Cancelled·Perineural incobotulinumtoxin-A for Complex Regional Pain Syndrome - An open-label feasibility study (PINCom)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519688-16-00·Authorised, ongoing·A Multicenter, Randomized, Open-Label, Blinded Endpoint Evaluation, Active-Controlled Study to Compare the Efficacy and Safety of SRSD107 and Enoxaparin in Adult Subjects Undergoing Elective Primary Unilateral Total Knee Arthroplasty.
skipped — LLM skipped (--skip-llm)
- ctis·2024-520204-26-00·Cancelled·Effects of 10 vs. 20 mL Local Anesthetic for Popliteal Plexus Block on Opioid Consumption, Pain, and Patient-Reported Outcomes after Total Knee Arthroplasty - a randomized, controlled, blinded study
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·2024-516970-31-00·Cancelled·Molecular imaging exploration of ocular angiogenic activity and evaluation of its value in therapeutic follow-up of AMD patients
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·2024-513609-29-01·Cancelled·Prospective, randomized, blinded, comparative study between botulinum toxin and topical capsaicin in the treatment of postmastectomy syndrome. Pilot study
skipped — LLM skipped (--skip-llm)
- ctis·2024-514844-10-00·Expired·RB SFCE 2009 : Adjuvant treatment in extensive unilateral retinoblastoma primary enucleated
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·2023-507490-18-00·Authorised, ongoing·Enhanced recovery and Abbreviated Length of Anticoagulation for Thromboprophylaxis after primary Hip Arthroplasty – the ENABLE-Hip Trial
skipped — LLM skipped (--skip-llm)
- ctis·2022-500631-36-00·Authorised, ongoing·High Dose Steroids in Children with Stroke and Unilateral Focal Arteriopathy:
A Multicentre Randomized Controlled Trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-511342-40-00·Authorised, ongoing·A Phase 1/2, Open-Label, Multicenter Trial with a Single Ascending Dose Cohort with Unilateral Intracochlear Injection Followed by a Bilateral Injection Expansion Cohort to Evaluate the Safety, Tolerability, and Efficacy of DB-OTO in Children and Infants with Biallelic hOTOF Mutations
skipped — LLM skipped (--skip-llm)
- ctis·2023-508602-14-00·Cancelled·A Phase 2, Multicenter, Randomized, Open-label, Active-Control Study of REGN7508, a Factor XI Monoclonal Antibody, for the Prevention of Venous Thromboembolism in Participants Undergoing an Elective, Unilateral, Total Knee Arthroplasty (ROXI-VTE II)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511687-90-00·Cancelled·Safety and Efficacy of a Unilateral Subretinal Administration of HORA PDE6B in Patients with Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression
skipped — LLM skipped (--skip-llm)
- ctis·2023-505507-22-00·Cancelled·PENTALON - Pilot study for the evaluation of [68Ga]Ga-PentixaFor PET imaging for the identification of unilateral adrenal secretion of ALdosterON in patients with primary aldosteronism.
skipped — LLM skipped (--skip-llm)
- ctis·2023-504466-28-00·Expired·A Phase I/II, open-ended, adaptative, open label dose escalation and expansion clinical trial to evaluate the efficacy and safety of unilateral intracochlear injection of SENS-501 using an injection system in children with severe to profound hearing loss due to Otoferlin gene mutations
skipped — LLM skipped (--skip-llm)
- ctis·2023-503340-13-00·Authorised, ongoing·A multicenter, double-blinded, randomized, placebo-controlled trial to compare the effectiveness of intratympanic injections methylPREDnisolone versus placebo in the treatment of vertigo attacks in MENière’s disease (PREDMEN trial).
skipped — LLM skipped (--skip-llm)
- ctis·2022-501470-18-00·Cancelled·A Phase 2, Multicenter, Randomized, Open-Label, Active-Control Study of REGN9933, a Factor XI Monoclonal Antibody, for Prevention of Venous Thromboembolism after Elective, Unilateral, Total Knee Arthroplasty
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, unilateral — 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, unilateral"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Choanal atresia, unilateral"
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 2026-07-27T07:32:28.657Z
