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ORPHA:308

Progressive myoclonic epilepsy type 1

medium confidenceDisorder

Also known as: EPM1 · Progressive myoclonus epilepsy type 1 · ULD · Unverricht-Lundborg disease

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

662

85.5th percentile

Trials

4

Interventional, condition-specific

Researchers

958

Distinct authors in sample

Gene link

CSTB

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare myoclonic (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic with , but with only a mild cognitive decline over time.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

PME type 1 · Unverricht-Lundborg syndrome · epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) · progressive myoclonic epilepsy type 1 · progressive myoclonus epilepsy type 1

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.

  1. Gene identifiedPresent

    Definitive — CSTB

  2. LiteraturePresent

    662 matched papers (313 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    4 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 (CSTB).

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?

662

662 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.

662 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).

313 in the last 10 years · medium confidence · 85.5th percentile (publications denominator)

Phrase hits: 662 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

958

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.

  1. 01
    Kälviäinen R26 papers · 2026

    Kuopio Epilepsy Center, Department of Neurology, Kuopio University Hospital, Kuopio, Finland. Reetta.Kalviainen@kuh.fi

    Papers in Europe PMC
  2. 02
    Franceschetti S21 papers · 2025

    Division of Neurophysiology and Epileptology, Neurological Institute C. Besta via Caloria 11, 20133 Milan, Milan, Italy. franceschetti@istituto-besta.it

    Papers in Europe PMC
  3. 03
    Mervaala E18 papers · 2026

    Department of Clinical Neurophysiology, Kuopio University Hospital, P.O. Box 100, FI-70029 KYS, Finland; Department of Clinical Neurophysiology, School of Medicine, University of Eastern Finland, P.O. Box 1627, 70211 Kuopio, Finland.

    Papers in Europe PMC
  4. 04
    Canafoglia L17 papers · 2025

    Department of Clinical Neurophysiology, IRCCS National Neurological Institute C. Besta, Milano, Italy.

    Papers in Europe PMC
  5. 05
    Lehesjoki AE16 papers · 2026

    Folkhälsan Research Center, University of Helsinki, Helsinki, Finland.

    Papers in Europe PMC
  6. 06
    Hyppönen J15 papers · 2026

    Department of Clinical Neurophysiology, Kuopio University Hospital, P.O. Box 100, FI-70029 KYS, Finland.

    Papers in Europe PMC
  7. 07
    Genton P12 papers · 2024

    Centre Saint Paul-H. Gastaut, Marseille, France.

    Papers in Europe PMC
  8. 08
    Ferlazzo E11 papers · 2022

    Centre for the Diagnosis and Care of Epilepsy, Department of Neurosciences, Psychiatric and Anaestesiological Sciences, University of Messina, Italy. edoferl@hotmail.it

    Papers in Europe PMC
  9. 09
    Vanninen R11 papers · 2023

    Department of Clinical Radiology, Kuopio University Hospital, P.O. Box 100, FI-70029 KYS, Finland; Department of Clinical Radiology, Institute of Clinical Medicine, School of Medicine, University of Eastern Finland, P.O. Box 1627, 70211 Kuopio, Finland.

    Papers in Europe PMC
  10. 10
    Koskenkorva P10 papers · 2023

    Department of Clinical Radiology, Kuopio University Hospital, Puijonlaaksontie 2, FIN-70210 Kuopio, Finland. paivi.koskenkorva@kuh.fi

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting. 3 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

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

medium confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 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.

Broader category: myoclonic epilepsy

3

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

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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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 1" OR "Progressive myoclonus epilepsy type 1" OR "Unverricht-Lundborg disease" OR "PME type 1" OR "Unverricht-Lundborg syndrome" OR "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Progressive myoclonic epilepsy type 1" OR "Progressive myoclonus epilepsy type 1" OR "Unverricht-Lundborg disease" OR "PME type 1" OR "Unverricht-Lundborg syndrome" OR "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)" OR "CSTB"

Recall-expansion terms: CSTB

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"myoclonic epilepsy"

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EPM1; ULD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:20:58.765Z