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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

Publications

3,445

90.8th percentile

Trials

4

Interventional, condition-specific

Researchers

958

Distinct authors in sample

Gene link

CSTB

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CSTB

  2. LiteraturePresent

    3,445 matched papers (2,239 in last 10 years) Source

  3. Phenotype characterisedPresent

    21 HPO annotations (e.g. Bilateral tonic-clonic seizure; Mild intellectual disability; Dysarthria) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

21

Associated phenotypes · MONDO:0009698

  • Bilateral tonic-clonic seizure
  • Mild intellectual disability
  • Dysarthria
  • Generalized non-motor (absence) seizure
  • Ataxia

Showing 5 of 21 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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)

5 associated chemicals · 3 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Levetiracetam · therapeutic
  • Primidone · therapeutic
  • Topiramate · therapeutic
  • Zonisamide · therapeutic
  • Valproic Acid · marker/mechanism

Pathways: Innate Immune System; Immune System; Neutrophil degranulation

MyDisease.info · MONDO:0009698

Literature

Is anyone studying this?

3,445

3,445 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.

3,445 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).

2,239 in the last 10 years · medium confidence · 90.8th 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 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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 (1)

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 Progressive myoclonic epilepsy type 1 — check Associations / patient organisations on that page.

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)") OR ("CSTB" OR "CSTB syndrome" OR "CSTB-related")

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)"

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: ok — strategies attempted: phrase; 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