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ORPHA:501

Lafora disease

low confidenceDisorder

Also known as: EPM2 · PME type 2 · Progressive myoclonic epilepsy type 2 · Progressive myoclonus epilepsy type 2

Publications

1,974

Trials

1

Interventional, condition-specific

Researchers

907

Distinct authors in sample

Gene link

EPM2A, NHLRC1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, inherited, severe form of myoclonus characterized by drug-resistant , myoclonus, and psychomotor deterioration affecting previously healthy children or adolescents.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

epilepsy, progressive myoclonic 2A (Lafora) · epilepsy, progressive myoclonic 2B (Lafora) · myoclonic epilepsy of Lafora · progressive myoclonic epilepsy type 2 · progressive myoclonus epilepsy type 2

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — EPM2A, NHLRC1

  2. LiteraturePresent

    1,974 matched papers (1,167 in last 10 years) Source

  3. Phenotype characterisedPresent

    62 HPO annotations (e.g. Emotional lability; Depression; Dementia) Source

  4. Animal modelPresent

    9 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. metformin Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (EPM2A, NHLRC1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

62

Associated phenotypes · MONDO:0009697

  • Emotional lability
  • Depression
  • Dementia
  • Ataxia
  • Spasticity

Showing 5 of 62 — open Monarch for the full list.

Animal models (Monarch / Alliance)

9

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA metforminprogressive myoclonus epilepsy Lafora Disease · 2017-12-14 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0009697

CTD chemicals (MyDisease.info)

1 associated chemical · 9 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Penicillamine · marker/mechanism

Pathways: Metabolism; Disease; Glycogen storage diseases; Glycogen synthesis; Myoclonic epilepsy of Lafora; Diseases of carbohydrate metabolism; Diseases of metabolism; Glucose metabolism

MyDisease.info · MONDO:0009697

Literature

Is anyone studying this?

1,974

1,974 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.

1,974 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).

1,167 in the last 10 years · low confidence

Phrase hits: 1,306 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

907

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
    Minassian BA26 papers · 2026

    Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA. Electronic address: berge.minassian@utsouthwestern.edu.

    Papers in Europe PMC
  2. 02
    Sanz P23 papers · 2026

    Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Madrid, Málaga, Spain.

    Papers in Europe PMC
  3. 03
    Muccioli L17 papers · 2026

    Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  4. 04
    Bisulli F16 papers · 2026

    Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  5. 05
    Gentry MS16 papers · 2026

    Department of Molecular and Cellular Biochemistry, College of Medicine, University of Kentucky, Lexington, KY, USA. matthew.gentry@uky.edu.

    Papers in Europe PMC
  6. 06
    Serratosa JM16 papers · 2026

    Laboratory of Neurology, Fundación Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Autónoma University, 28040 Madrid, Spain.

    Papers in Europe PMC
  7. 07
    Sánchez MP15 papers · 2026

    Laboratory of Neurology, Fundación Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Autónoma University, 28040 Madrid, Spain.

    Papers in Europe PMC
  8. 08
    Iglesias-Cabeza N11 papers · 2026

    Laboratory of Neurology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28029, Spain.

    Papers in Europe PMC
  9. 09
    Wu J11 papers · 2026

    Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

    Papers in Europe PMC
  10. 10
    Nitschke S10 papers · 2026

    Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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.

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 Lafora disease — 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.

("Lafora disease" OR "PME type 2" OR "Progressive myoclonic epilepsy type 2" OR "Progressive myoclonus epilepsy type 2" OR "epilepsy, progressive myoclonic 2A (Lafora)" OR "epilepsy, progressive myoclonic 2B (Lafora)" OR "myoclonic epilepsy of Lafora" OR "myoclonic epilepsy of the Lafora") OR ("EPM2A" OR "EPM2A syndrome" OR "EPM2A-related" OR "NHLRC1" OR "NHLRC1 syndrome" OR "NHLRC1-related")

Run this search on Europe PMC

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

"Lafora disease" OR "PME type 2" OR "Progressive myoclonic epilepsy type 2" OR "Progressive myoclonus epilepsy type 2" OR "epilepsy, progressive myoclonic 2A (Lafora)" OR "epilepsy, progressive myoclonic 2B (Lafora)" OR "myoclonic epilepsy of Lafora" OR "myoclonic epilepsy of the Lafora"

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: 1 interventional · 2 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EPM2

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:03:50.930Z