ORPHA:166282
Hereditary sick sinus syndrome
Publications
19
27.5th percentile
Trials
0
Interventional, condition-specific
Researchers
141
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012061
- MeSH:C563907
- UMLS:C0340491
Additional Mondo synonyms (2)
familial sinus node dysfunction · hereditary sick sinus syndrome
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
19 matched papers (10 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; 36 for broader category sick sinus syndrome
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?
19
19 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=5449) is 41.
19 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).
10 in the last 10 years · high confidence · 27.5th percentile (publications denominator)
Phrase hits: 18 · MeSH hits: 1
Who's working on it?
141
Distinct author names in 19 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.
- 01Charpentier F2 papers · 2020
l'institut du thorax, INSERM, CNRS, UNIV Nantes, F-44007, Nantes, France.
Papers in Europe PMC - 02Wickman K2 papers · 2021
Department of Pharmacology, University of Minnesota, Minneapolis, USA.
Papers in Europe PMC - 03Akerman E1 paper · 2022
Department of Pharmacology, University of Oxford, Oxford, United Kingdom.
Papers in Europe PMC - 04Anderson A1 paper · 2021
Graduate Program in Pharmacology (A.A., B.N.V.) and Department of Pharmacology (E.M.F.d.V., K.W.), University of Minnesota, Minneapolis, Minnesota; Department of Pharmaceutical Sciences, College of Pharmacy, University of Nebraska Medical Center, Omaha, Nebraska (C.R.H.); and Departments of Pharmacology and Chemistry and Institute of Chemical Biology, Vanderbilt University, Nashville, Tennessee (C.D.W.).
Papers in Europe PMC - 05Ayagama T1 paper · 2022
Department of Pharmacology, University of Oxford, Oxford, United Kingdom.
Papers in Europe PMC - 06Azushima K1 paper · 2017
Department of Medical Science and Cardiorenal Medicine, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan. azushima@yokohama-cu.ac.jp.
Papers in Europe PMC - 07Bachner L1 paper · 1995Papers in Europe PMC
- 08Bagheri-Loftabad K1 paper · 2025
Meniere Disease Neuroscience Research Program, Faculty of Medicine & Health, School of Medical Sciences, The Kolling Institute, University of Sydney, Sydney, NSW, Australia.
Papers in Europe PMC - 09Baine S1 paper · 2020
College of Pharmacy, The Ohio State University, Columbus, OH, USA; Davis Heart and Lung Research Institute, The Ohio State University, Columbus, OH, USA.
Papers in Europe PMC - 10Benjamin EJ1 paper · 2014
Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts, USA.
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 sick sinus syndrome, 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.
36 interventional trials matched sick sinus syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: sick sinus syndrome
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
- NCT07671898·RECRUITING·Comparison of Focal Cryoablation vs. Radiofrequency Cardioneuroablation for Bradyarrhythmias
Conditions: Bradycardia · Syncope, Vasovagal · Sick Sinus Syndrome · Atrioventricular Block·Matched via name phrase
- NCT06288633·RECRUITING·Cardioneuroablation for Bradyarrhythmia
Conditions: Bradycardia · Syncope · Sick Sinus Syndrome·Matched via name phrase
- NCT07314008·RECRUITING·Left Bundle Branch Versus Minimized Ventricular Pacing in Patients With Sick Sinus Syndrome and Prolonged AV Interval
Conditions: Sick Sinus Syndrome · Atrioventricular Nodal Dysfunction·Matched via name phrase
- NCT06652750·RECRUITING·Evaluating the Safety and Effectiveness of 5G Cloud Follow-up for Cardiovascular Implantable Electronic Devices
Conditions: Sick Sinus Syndrome · Atrioventricular Block, Second and Third Degree · Heart Failure·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.
"Hereditary sick sinus syndrome" OR "familial sinus node dysfunction"
MeSH descriptor terms unioned into the query: Sick Sinus Syndrome 1, Autosomal Recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary sick sinus syndrome" OR "familial sinus node dysfunction" OR "Sick Sinus Syndrome 1, Autosomal Recessive"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"sick sinus syndrome"
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 2026-07-27T08:22:39.045Z