ORPHA:90647
Jervell and Lange-Nielsen syndrome
Also known as: Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome
Publications
944
88.6th percentile
Trials
3
Interventional, condition-specific
Researchers
1,305
Distinct authors in sample
Gene link
KCNQ1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare severe familial long QT syndrome characterized by profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0002441
- MeSH:D029593
- UMLS:C0022387
- NCIT:C84793
Additional Mondo synonyms (3)
Jervell Lange-Nielsen syndrome · Jervell and Lange Nielsen syndrome · long QT interval-deafness 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — KCNQ1
- LiteraturePresent
944 matched papers (419 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 trialPresent
3 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?
Yes — we know a specific gene responsible (KCNQ1).
GenCC classification: Definitive.
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?
944
944 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=5449) is 41.
944 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).
419 in the last 10 years · high confidence · 88.6th percentile (publications denominator)
Phrase hits: 944 · MeSH hits: 1
Who's working on it?
1,305
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.
- 01Rydberg A5 papers · 2024
Department of Clinical Sciences, Division of Pediatrics, Umeå University, Umeå, Sweden.
Papers in Europe PMC - 02Zhang L5 papers · 2026
Department of Biostatistics, National Vaccine Innovation Platform, School of Public Health, Nanjing Medical University, Nanjing, China.
Papers in Europe PMC - 03
- 04Beckmann BM4 papers · 2023
Department of Medicine I, University Hospital, LMU Munich, 80336 Munich, Germany.
Papers in Europe PMC - 05Schwartz PJ4 papers · 2020
Istituto Auxologico Italiano, IRCCS, Laboratory of Cardiovascular Genetics Milan, Italy.
Papers in Europe PMC - 06Sun Y4 papers · 2026
Department of Biostatistics, National Vaccine Innovation Platform, School of Public Health, Nanjing Medical University, Nanjing, China.
Papers in Europe PMC - 07Winbo A4 papers · 2018
Department of Clinical Sciences, Division of Pediatrics, Umeå University, Umeå, Sweden.
Papers in Europe PMC - 08Ackerman MJ3 papers · 2022
Department of Cardiovascular Medicine, Division of Heart Rhythm Services (Windland Smith Rice Genetic Heart Rhythm Clinic), Mayo Clinic, Rochester, MN, USA.
Papers in Europe PMC - 09Al-Aama JY3 papers · 2022
Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia; Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
Papers in Europe PMC - 10Amirian A3 papers · 2019
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
high confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 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.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Jervell and Lange-Nielsen syndrome" OR "Long QT interval-deafness syndrome" OR "Long QT interval-hearing loss syndrome" OR "Jervell Lange-Nielsen syndrome" OR "Jervell and Lange Nielsen syndrome"
MeSH descriptor terms unioned into the query: Jervell-Lange Nielsen Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Jervell and Lange-Nielsen syndrome" OR "Long QT interval-deafness syndrome" OR "Long QT interval-hearing loss syndrome" OR "Jervell Lange-Nielsen syndrome" OR "Jervell and Lange Nielsen syndrome" OR "Jervell-Lange Nielsen Syndrome" OR "KCNQ1"
Recall-expansion terms: KCNQ1
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 3 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 2026-07-27T03:52:48.931Z