ORPHA:280620
Progressive myoclonic epilepsy type 6
Also known as: EPM6 · GOSR2-related progressive myoclonus ataxia · North Sea progressive myoclonus epilepsy · PME type 6 · Progressive myoclonus epilepsy type 6
Publications
60
52.4th percentile
Trials
0
Interventional, condition-specific
Researchers
502
Distinct authors in sample
Gene link
GOSR2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, neurological disorder characterized by early-onset, associated with myoclonic (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.
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:0013526
- OMIM:614018
- UMLS:C5190805
Additional Mondo synonyms (5)
GOSR2 progressive myoclonic epilepsy · epilepsy, progressive myoclonic 6 · epilepsy, progressive myoclonic, type 6 · progressive myoclonic epilepsy caused by mutation in GOSR2 · progressive myoclonus epilepsy type 6
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 identifiedPresent
Strong — GOSR2
- LiteraturePresent
60 matched papers (47 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; 4 for broader category myoclonic epilepsy
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 (GOSR2).
GenCC classification: Strong.
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?
60
60 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.
60 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).
47 in the last 10 years · medium confidence · 52.4th percentile (publications denominator)
Phrase hits: 60 · MeSH hits: 0
Who's working on it?
502
Distinct author names in 60 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.
- 01de Koning TJ13 papers · 2025
Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.
Papers in Europe PMC - 02Tijssen MAJ10 papers · 2025
Department of Neurology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Papers in Europe PMC - 03van der Veen S6 papers · 2025
Department of Neurology, University Groningen, University Medical Center Groningen, Groningen, Netherlands.
Papers in Europe PMC - 04Elting JWJ5 papers · 2025
Department of Neurology University Medical Center Groningen University of Groningen Groningen The Netherlands.
Papers in Europe PMC - 05van Egmond ME5 papers · 2025
Department of Neurology University Medical Center Groningen University of Groningen Groningen The Netherlands.
Papers in Europe PMC - 06Brouwer OF4 papers · 2020
Department of Neurology University Medical Center Groningen University of Groningen Groningen The Netherlands.
Papers in Europe PMC - 07Lambrechts RA4 papers · 2025
Department of Neurology, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Papers in Europe PMC - 08Polet SS4 papers · 2025
Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Papers in Europe PMC - 09Sival DA4 papers · 2020
Department of Paediatric Neurology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Papers in Europe PMC - 10Tijssen MA4 papers · 2020
Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands. m.a.j.de.koning-tijssen@umcg.nl.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 4 trials are registered for myoclonic epilepsy, 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.
medium 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.
4 interventional trials matched myoclonic epilepsy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: myoclonic epilepsy
4
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
- NCT07723963·NOT YET RECRUITING·A Study to Evaluate the Safety and Efficacy of JZP926 Capsule for the Treatment of Juvenile Myoclonic Epilepsy
Conditions: Juvenile Myoclonic Epilepsy·Matched via name phrase
Observational and natural-history studies
1 observational study matches 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.
Recruiting or not-yet-recruiting
- NCT06593951·RECRUITING·Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Conditions: Progressive Myoclonus Epilepsy Type 1 · EPM1 · CSTB-related Disease · Myoclonus Epilepsies, Progressive·Matched via recall expansion
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.
"Progressive myoclonic epilepsy type 6" OR "GOSR2-related progressive myoclonus ataxia" OR "North Sea progressive myoclonus epilepsy" OR "PME type 6" OR "Progressive myoclonus epilepsy type 6" OR "GOSR2 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic 6" OR "epilepsy, progressive myoclonic, type 6" OR "progressive myoclonic epilepsy caused by mutation in GOSR2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Progressive myoclonic epilepsy type 6" OR "GOSR2-related progressive myoclonus ataxia" OR "North Sea progressive myoclonus epilepsy" OR "PME type 6" OR "Progressive myoclonus epilepsy type 6" OR "GOSR2 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic 6" OR "epilepsy, progressive myoclonic, type 6" OR "progressive myoclonic epilepsy caused by mutation in GOSR2" OR "GOSR2" OR "progressive myoclonus epilepsy" OR "variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration"
Recall-expansion terms: GOSR2, progressive myoclonus epilepsy, variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"myoclonic epilepsy"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: EPM6
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T11:55:28.267Z