ORPHA:99106
Atrial septal defect, ostium primum type
Also known as: ASD, ostium primum type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,049
Trials
1
Interventional, condition-specific
Researchers
1,055
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020437
- MeSH:C548006
- UMLS:C5680294
Additional Mondo synonyms (12)
ASD ostium primum type · PAVC · PAVSD · atrial septal defect ostium primum · atrioventricular defect with atrial shunting only · incomplete atrioventricular canal defect with isolated atrial component · incomplete atrioventricular septal defect with isolated atrial component · ostium primum ASD · partial atrioventricular canal defect with isolated atrial component · partial atrioventricular septal defect · partial atrioventricular septal defect: ostium primum type · primum atrial septal defect
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
1,049 matched papers (533 in last 10 years) Source
- Phenotype characterisedPresent
38 HPO annotations (e.g. Mitral regurgitation; Left ventricular hypertrophy; Palpitations) 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
1 matched on ClinicalTrials.gov
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)
38
Associated phenotypes · MONDO:0020437
- Mitral regurgitation
- Left ventricular hypertrophy
- Palpitations
- Recurrent respiratory infections
- Exertional dyspnea
Showing 5 of 38 — 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?
1,049
1,049 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,049 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).
533 in the last 10 years · low confidence
Phrase hits: 1,049 · MeSH hits: 0
Who's working on it?
1,055
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.
- 01Buratto E4 papers · 2022
Cardiac Surgery Unit, The Royal Children's Hospital, Melbourne, Australia The University of Melbourne, Melbourne, Australia.
Papers in Europe PMC - 02d'Udekem Y4 papers · 2025
Cardiac Surgery Unit, The Royal Children's Hospital, Melbourne, Australia The University of Melbourne, Melbourne, Australia Murdoch Children's Research Institute, Melbourne, Australia.
Papers in Europe PMC - 03Konstantinov IE4 papers · 2022
Cardiac Surgery Unit, The Royal Children's Hospital, Melbourne, Australia The University of Melbourne, Melbourne, Australia Murdoch Children's Research Institute, Melbourne, Australia igor.konstantinov@rch.org.au.
Papers in Europe PMC - 04Li J4 papers · 2026
Department of Cardiac Surgery, Zhongshan Hospital, Fudan University, Shanghai, China.
Papers in Europe PMC - 05Li X4 papers · 2026
Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
Papers in Europe PMC - 06Sharma A4 papers · 2025
Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Papers in Europe PMC - 07Almaghraby A3 papers · 2023
Cardiology Department Ibrahim Bin Hamad Obaidullah Hospital Ras Al Khaimah UAE.
Papers in Europe PMC - 08Brizard CP3 papers · 2022
Cardiac Surgery Unit, The Royal Children's Hospital, Melbourne, Australia The University of Melbourne, Melbourne, Australia Murdoch Children's Research Institute, Melbourne, Australia.
Papers in Europe PMC - 09Garg A3 papers · 2020
Department of Preventive and Non invasive Cardiology, Jaipur Heart Institute, Jaipur, India.
Papers in Europe PMC - 10He Y3 papers · 2025
Department of Cardiovascular Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 33 trials are registered for atrial septal defect, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
low confidence · 80.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: atrial septal defect
33
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
- NCT07716761·NOT YET RECRUITING·From Prehabilitation to Rehabilitation (Prehab2Rehab): Digitally Supported Short-Term Prehabilitation Prior to Cardiac Surgery
Not reviewed·Conditions: Coronary Artery Bypass Grafting (CABG) Surgery · Heart Valve Surgery · Surgical Closure of an Atrial Septal Defect (ASD)·Matched via name phrase
- NCT07054541·NOT YET RECRUITING·A Novel Echocardiography-Guided Strategy for Percutateous Closure of Atrial Septal Defect Assisted by PannaWire
Not reviewed·Conditions: Atrial Septal Defect (ASD)·Matched via name phrase
- NCT02097758·RECRUITING·Efficacy of Three Dimensional Transesophageal Echocardiography for Percutaneous Device Closure in Atrial Septal Defect
Not reviewed·Conditions: Atrial Septal Defect · Successful Device Closure·Matched via name phrase
- NCT07529028·NOT YET RECRUITING·Safety and Efficacy of the AbsnowTM II Absorbable Atrial Septal Defect Closure System for Atrial Septal Defect Closure Therapy
Not reviewed·Conditions: Atrial Septal Defect·Matched via name phrase
- NCT06761807·NOT YET RECRUITING·Electrocardiographic and Electrophysiologic Changes After Percutaneous Closure of Atrial Septal Defect
Not reviewed·Conditions: ASD · Brady Arrythmia·Matched via name phrase
- NCT06631534·RECRUITING·Effect of Dexmedetomidine Supplementation to General Anaesthesia in Paediatric Transcatheter Closure of Atrial Septal Defect
Not reviewed·Conditions: Atrial Septal Defect (ASD) · Dexmedetomidine · Delirium - Postoperative · Stress Response·Matched via name phrase
- NCT07273227·NOT YET RECRUITING·A Multicenter Randomized Controlled Trial of Echocardiography-Guided Atrial Septal Defect Closure Performed in a Mobile Surgical Unit
Not reviewed·Conditions: ASD - Atrial Septal Defect·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 16 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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 (15)
- ctis·2024-517115-70-00·Authorised, recruiting·Platelet inhibition versus direct oral anticoagulation in patients undergoing percutaneous closure of patent foramen ovale or atrial septal defect
skipped — LLM skipped (--skip-llm)
- ctis·2025-524062-16-00·Authorised·A Phase 3 Multicenter, Open-label Study to Assess the Long-term Safety and Tolerability of KarXT in Adolescents (13 to 17 years of age) with Schizophrenia and KarXT+KarX-EC in Children and Adolescents (5 to 17 years of age) with Irritability Associated with Autism Spectrum Disorder
skipped — LLM skipped (--skip-llm)
- ctis·2024-518835-13-00·Authorised, ongoing·A Prospective, Multi-National, Randomized, Double-Blind, Crossover Study to Evaluate the Efficacy and Safety of Gadopiclenol-enhanced MRA Compared to Gadoterate Meglumine-enhanced MRA in the Assessment of Steno-occlusive Disease in Adult Patients with Suspected Vascular Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-523699-21-00·11·An open label safety and efficacy study of allogenic adipose tissue-derived mesenchymal stromal cells on autism and gastrointestinal symptoms
skipped — LLM skipped (--skip-llm)
- ctis·2025-522841-23-00·Authorised·ALaDIN - Use of low doses of interleukin-2 in autism spectrum disorders
skipped — LLM skipped (--skip-llm)
- ctis·2024-513955-34-00·Authorised, ongoing·A pilot, multicentre, controlled, open-label study evaluating 24 months of lithium carbonate treatment in patients with TBR1-related neurocognitive disorder.
ESALIT (Efficacy- Safety-Lithium-TBR1)
skipped — LLM skipped (--skip-llm)
- ctis·2024-513436-14-00·Authorised, ongoing·Evaluation of oxytocin treatment in children with autism and intellectual disability’, Multiple-dose Oxytocine - ASD and Intellectual Disability
skipped — LLM skipped (--skip-llm)
- ctis·2024-511924-15-00·Cancelled·A Randomized, Controlled, Multicenter Study to Evaluate the Safety and Efficacy of Paltusotine in Subjects with Non-pharmacologically Treated Acromegaly (PATHFNDR-2)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511925-71-00·Cancelled·A Randomized, Controlled, Multi-Center Study to Evaluate the Safety and Efficacy of Paltusotine in Subjects with Acromegaly Treated with Long-acting Somatostatin Receptor Ligands
skipped — LLM skipped (--skip-llm)
- ctis·2024-516306-28-00·Revoked·Interest of Oxytocin as an Adjuvant Treatment of Psycho-educational Measures in Challenging Behaviors in Children With Autism Spectrum Disorders and Moderate to Severe Intellectual Disability: Feasibility and Safety Study. (OT-DEFI)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512202-25-00·Cancelled·A 52-Week Open-Label Extension Study of Pimavanserin in Children and Adolescents with Irritability Associated with Autism Spectrum Disorder (ASD)
skipped — LLM skipped (--skip-llm)
- ctis·2023-508039-29-00·Expired·A Phase 2, Randomized, Double-blind, Placebo-controlled, Dose Ranging Study to Assess the Efficacy and Safety of Rocatinlimab in Adult Subjects With Moderate-to-severe Asthma
skipped — LLM skipped (--skip-llm)
- ctis·2023-506826-36-00·Authorised, ongoing·A randomized, placebo-controlled, double-blind, 3-period cross-over study in youth with autism spectrum disorders evaluating neural plasticity and learning after a single administration of intranasal oxytocin
skipped — LLM skipped (--skip-llm)
- ctis·2023-505253-41-01·Authorised, ongoing·Enhancing social attunement in autism via interpersonal sensorimotor synchronization therapy combined with single-dose intranasal oxytocin administration
skipped — LLM skipped (--skip-llm)
- ctis·2023-503678-18-00·Cancelled·An Exploratory, Multicenter, Randomized, double-blind, placebo-controlled study evaluating the effect and safety of pitolisant in children and adolescents with Autism Spectrum Disorders.
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 Atrial septal defect, ostium primum type — 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.
"Atrial septal defect, ostium primum type" OR "ASD, ostium primum type" OR "ASD ostium primum type" OR "PAVSD" OR "atrial septal defect ostium primum" OR "atrioventricular defect with atrial shunting only" OR "incomplete atrioventricular canal defect with isolated atrial component" OR "incomplete atrioventricular septal defect with isolated atrial component" OR "ostium primum ASD" OR "partial atrioventricular canal defect with isolated atrial component" OR "partial atrioventricular septal defect" OR "partial atrioventricular septal defect: ostium primum type" OR "primum atrial septal defect"
MeSH descriptor terms unioned into the query: [OBSOLETE] Atrial Septal Defect Ostium Primum
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Atrial septal defect, ostium primum type" OR "ASD, ostium primum type" OR "ASD ostium primum type" OR "PAVSD" OR "atrial septal defect ostium primum" OR "atrioventricular defect with atrial shunting only" OR "incomplete atrioventricular canal defect with isolated atrial component" OR "incomplete atrioventricular septal defect with isolated atrial component" OR "ostium primum ASD" OR "partial atrioventricular canal defect with isolated atrial component" OR "partial atrioventricular septal defect" OR "partial atrioventricular septal defect: ostium primum type" OR "primum atrial septal defect" OR "[OBSOLETE] Atrial Septal Defect Ostium Primum"
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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"atrial septal defect"
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PAVC
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- "partial atrioventricular septal defect" also appears on ORPHA:1330
- Publication count (1049) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T06:04:57.697Z