RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:457265

Progressive myoclonic epilepsy type 9

low confidenceDisorder

Also known as: PME type 9 · Progressive myoclonic epilepsy due to LMNB2 deficiency · Progressive myoclonus epilepsy type 9 · EPM9

Query health: suspect — Only one of 2 strategies returned hits (recall-expansion).

Publications

0

Trials

0

Interventional, condition-specific

Researchers

0

Distinct authors in sample

Gene link

LMNB2

Strong

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic and early-onset leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as , may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally).

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

LMNB2 progressive myoclonic epilepsy · epilepsy, progressive myoclonic, type 9 · progressive myoclonic epilepsy caused by mutation in LMNB2 · progressive myoclonic epilepsy due to LMNB2 deficiency · progressive myoclonus epilepsy type 9

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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — LMNB2

  2. LiteratureNot found

    No matched Europe PMC hits under our query rules 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 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 (LMNB2).

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?

0

We found no papers under this exact name — work may still exist under another label.

0 in the last 10 years · low confidence

Phrase hits: 0 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

0

Distinct author names in 0 sampled papers.

Who's working on it?

No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.

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.

low 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

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 9" OR "PME type 9" OR "Progressive myoclonic epilepsy due to LMNB2 deficiency" OR "Progressive myoclonus epilepsy type 9" OR "LMNB2 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic, type 9" OR "progressive myoclonic epilepsy caused by mutation in LMNB2"

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 9" OR "PME type 9" OR "Progressive myoclonic epilepsy due to LMNB2 deficiency" OR "Progressive myoclonus epilepsy type 9" OR "LMNB2 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic, type 9" OR "progressive myoclonic epilepsy caused by mutation in LMNB2" OR "LMNB2" OR "progressive myoclonus epilepsy" OR "variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration"

Recall-expansion terms: LMNB2, 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: suspect — strategies attempted: phrase, recall-expansion; with hits: recall-expansion

Parent literature probe: progressive myoclonus epilepsy (MONDO:0020074) — 2440 hits

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EPM9

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
  • Zero publications but GenCC Strong — literature likely indexed under another name; excluded from neglect count

Ingested 2026-07-27T16:49:51.471Z · excluded from neglect metrics