ORPHA:438266
Progressive encephalomyelitis with rigidity and myoclonus
Also known as: PERM
Publications
524
77.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,023
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018581
- UMLS:C1861457
Additional Mondo synonyms (1)
progressive encephalomyelitis with rigidity
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
524 matched papers (329 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
524
524 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.
524 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).
329 in the last 10 years · medium confidence · 77.6th percentile (publications denominator)
Phrase hits: 524 · MeSH hits: 0
Who's working on it?
1,023
Distinct author names in 200 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.
- 01Newsome SD9 papers · 2025
Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: snewsom2@jhmi.edu.
Papers in Europe PMC - 02McKeon A8 papers · 2026
Department of Neurology, College of Medicine, Mayo Clinic, 200 1st Street SW, Rochester, Minnesota, 55905, USA.
Papers in Europe PMC - 03Villmann C8 papers · 2026
Institute for Clinical Neurobiology, University Hospital of Würzburg, Würzburg, Germany.
Papers in Europe PMC - 04Balint B7 papers · 2026
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Papers in Europe PMC - 05Wang Y7 papers · 2025
Department of Neurology, Division of Neuroimmunology and Neurological Infections, Johns Hopkins University School of Medicine, 600 N. Wolfe St., Pathology 627, Baltimore, MD, 21287, USA.
Papers in Europe PMC - 06Iizuka T6 papers · 2025
From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.G., J.L., E.M.-H., L.S., J.P., A.M.-L., A.S., J.D., F.G.), Hospital Clínic, Universitat de Barcelona; Neurology Department (M.G., E.M.-H., A.M.-L., A.S., J.D.), Institute of Neuroscience, Hospital Clínic, Barcelona; Centro de Investigación Biomédica en Red (M.G., E.M.-H., L.S., J.D.), Enfermedades Raras (CIBERER), Spain; Department of Neurology (T.I.), Kitasato University School of Medicine, Sagamihara, Japan; Neurology Division (M.S.), University of São Paulo, School of Medicine, Brazil; Department of Neurology (M.N.), Kansai Medical University, Hirakata; Department of Neurology (M. Kinoshita), Osaka University Graduate School of Medicine; Department of Neurology (M. Kurihara), Graduate School of Medicine, University of Tokyo; Department of Neurology (K.K.), Saitama Medical Center, Saitama Medical University, Kawagoe, Japan; Neuro-Oncology Unit (J.B.), Hospital Universitari de Bellvitge-ICO L'Hospitalet, Spain; Department of Neurology (S.K.), Hospital de Basurto, Bilbao; Hospital Universitario de La Princesa (P.S.), Instituto de Investigación Sanitaria La Princesa, Madrid; Immunology Department (R.R.-G., L.N.), Centre Diagnòstic Biomèdic, Hospital Clínic, Barcelona; Neurology Department (L.B.), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Department of Neurology (J.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; and Catalan Institute for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
Papers in Europe PMC - 07Sommer C6 papers · 2026
Department of Neurology, University Hospital Würzburg, Würzburg, Germany.
Papers in Europe PMC - 08Wiessler AL5 papers · 2026
Institute for Clinical Neurobiology, University Hospital of Würzburg, Würzburg, Germany.
Papers in Europe PMC - 09Bhatia KP4 papers · 2026
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Papers in Europe PMC - 10Dalakas MC4 papers · 2025
Neuroimmunology Unit, Department of Pathophysiology, Faculty of Medicine, National and Kapodistrian University of Athens, 75 Mikras Asias Street, Athens, 115 27, Greece.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
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).
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 encephalomyelitis with rigidity and myoclonus — check Associations / patient organisations on that page.
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 encephalomyelitis with rigidity and myoclonus" OR "progressive encephalomyelitis with rigidity"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Progressive encephalomyelitis with rigidity and myoclonus" OR "progressive encephalomyelitis with rigidity"
Study-type breakdown: 0 interventional · 0 observational · 0 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: PERM
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 2026-07-27T16:14:42.811Z