ORPHA:99103
Atrial septal defect, ostium secundum type
Also known as: ASD, ostium secundum type
Publications
70
44.5th percentile
Trials
0
Interventional, condition-specific
Researchers
504
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020434
- UMLS:C0344724
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
70 matched papers (31 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 34 for broader category atrial septal defect
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?
70
70 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.
70 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).
31 in the last 10 years · high confidence · 44.5th percentile (publications denominator)
Phrase hits: 70 · MeSH hits: 0
Who's working on it?
504
Distinct author names in 70 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.
- 01Digilio MC8 papers · 2024
Medical Genetics and Pediatric Cardiology, Bambino Gesù Hospital, Rome, Italy. digilio@opbg.net
Papers in Europe PMC - 02Dallapiccola B6 papers · 2022
Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Papers in Europe PMC - 03Capolino R5 papers · 2024
Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Papers in Europe PMC - 04Marino B5 papers · 2024
Department of Pediatrics, Pediatric Cardiology, Sapienza University, Rome, Italy.
Papers in Europe PMC - 05Novelli A5 papers · 2024
Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Papers in Europe PMC - 06Baban A4 papers · 2024
Medical and Surgical Department of Pediatric Cardiology, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Papers in Europe PMC - 07Angioni A3 papers · 2017
Medical Genetics Unit, Medical Genetics Laboratory, Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 08Dentici ML3 papers · 2024
Medical Genetics Unit, Medical Genetics Laboratory, Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 09Tartaglia M3 papers · 2022
Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Papers in Europe PMC - 10Alesi V2 papers · 2024
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
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). 34 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
34 interventional trials matched atrial septal defect, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: atrial septal defect
34
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
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
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
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
Conditions: Atrial Septal Defect·Matched via name phrase
- NCT06761807·NOT YET RECRUITING·Electrocardiographic and Electrophysiologic Changes After Percutaneous Closure of Atrial Septal Defect
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
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
Conditions: ASD - Atrial Septal Defect·Matched via name phrase
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 2026-07-26This 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 secundum type" OR "ASD, ostium secundum type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Atrial septal defect, ostium secundum type" OR "ASD, ostium secundum type"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"atrial septal defect"
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 2026-07-27T06:04:22.193Z