ORPHA:99104
Atrial septal defect, coronary sinus type
Also known as: ASD, coronary sinus type · Unroofed coronary sinus
Publications
676
81.5th percentile
Trials
0
Interventional, condition-specific
Researchers
984
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:0020435
- UMLS:C2063331
Additional Mondo synonyms (2)
atrial septal defect coronary sinus · unroofed coronary sinus
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
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
676 matched papers (422 in last 10 years) Source
- Phenotype characterisedPresent
26 HPO annotations (e.g. Left-to-right shunt; Coronary sinus atrial septal defect; 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 trialPartial
None under the specific name; 36 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)
26
Associated phenotypes · MONDO:0020435
- Left-to-right shunt
- Coronary sinus atrial septal defect
- Palpitations
- Exertional dyspnea
- Exercise intolerance
Showing 5 of 26 — 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?
676
676 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.
676 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).
422 in the last 10 years · high confidence · 81.5th percentile (publications denominator)
Phrase hits: 676 · MeSH hits: 0
Who's working on it?
984
Distinct author names in 200 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.
- 01Khadkikar G4 papers · 2021
Cardiology, Smt. Nathiba Hargovandas Lakhmichand (NHL) Municipal Medical College, Ahmedabad, IND.
Papers in Europe PMC - 02Patel A4 papers · 2021
Cardiology, Smt. Nathiba Hargovandas Lakhmichand (NHL) Municipal Medical College, Ahmedabad, IND.
Papers in Europe PMC - 03Ikegaya Y3 papers · 2021
New Tokyo Hospital, 1271 Wanagaya, Matsudo, Chiba, 270-2232, Japan.
Papers in Europe PMC - 04Iwahashi D3 papers · 2021
New Tokyo Hospital, 1271 Wanagaya, Matsudo, Chiba, 270-2232, Japan.
Papers in Europe PMC - 05Kumar S3 papers · 2025
Division of Pediatric Critical Care Medicine, Department of Pediatrics, Masonic Children's Hospital, 5635University of Minnesota, Minneapolis, MN, USA.
Papers in Europe PMC - 06Kume N3 papers · 2021
New Tokyo Hospital, 1271 Wanagaya, Matsudo, Chiba, 270-2232, Japan.
Papers in Europe PMC - 07Li J3 papers · 2024
Department of Ultrasound Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 08Li Y3 papers · 2024
Department of Ultrasound Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 09Nakamura S3 papers · 2021
New Tokyo Hospital, 1271 Wanagaya, Matsudo, Chiba, 270-2232, Japan.
Papers in Europe PMC - 10Nakao T3 papers · 2021
New Tokyo Hospital, 1271 Wanagaya, Matsudo, Chiba, 270-2232, Japan.
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). 36 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 · 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.
36 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
36
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
- 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
- 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
- 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
- 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
- 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
- NCT06761807·NOT YET RECRUITING·Electrocardiographic and Electrophysiologic Changes After Percutaneous Closure of Atrial Septal Defect
Conditions: ASD · Brady Arrythmia·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
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, coronary sinus 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, coronary sinus type" OR "ASD, coronary sinus type" OR "Unroofed coronary sinus" OR "atrial septal defect coronary sinus"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Atrial septal defect, coronary sinus type" OR "ASD, coronary sinus type" OR "Unroofed coronary sinus" OR "atrial septal defect coronary sinus"
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 2026-07-27T06:04:34.227Z