ORPHA:443192
Classic stiff person syndrome
Also known as: Classic SPS · Classic stiff man syndrome · Classic SMS
Publications
146
58.5th percentile
Trials
0
Interventional, condition-specific
Researchers
724
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
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:0018625
- UMLS:C5680058
Additional Mondo synonyms (1)
classic SPS
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
146 matched papers (110 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 trialPartial
None under the specific name; 12 for broader category stiff-person syndrome
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?
146
146 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
146 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).
110 in the last 10 years · high confidence · 58.5th percentile (publications denominator)
Phrase hits: 146 · MeSH hits: 0
Who's working on it?
724
Distinct author names in 146 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 SD16 papers · 2025
From the Geisinger Health System (M.E.E.), Danville, PA; and Johns Hopkins University (S.D.N.), Baltimore, MD. snewsom2@jhmi.edu.
Papers in Europe PMC - 02Wang Y13 papers · 2025
Department of Psychology, Weifang Medical University, 7166# Baotong West Street, Weifang, Shandong, 261053, P. R. China.
Papers in Europe PMC - 03McKeon A11 papers · 2023
From the Departments of Neurology (W.O.T., V.A.L., S.L.C., A.J.A., C.F.L., J.Y.M., S.J.P., P.S., M.T.-P., E.C.W., A.M.), Laboratory Medicine and Pathology (V.A.L., S.J.P., A.M.), Immunology (V.A.L.), and Pediatrics (E.C.W.), College of Medicine, Mayo Clinic, Rochester, MN; Euroimmun AG (L.K., C.P.), Lübeck, Germany; and Neurology (J.P.A.), Faculty of Medicine, University of Manitoba, Canada. mckeon.andrew@mayo.edu.
Papers in Europe PMC - 04Pittock SJ8 papers · 2023
From the Departments of Neurology (W.O.T., V.A.L., S.L.C., A.J.A., C.F.L., J.Y.M., S.J.P., P.S., M.T.-P., E.C.W., A.M.), Laboratory Medicine and Pathology (V.A.L., S.J.P., A.M.), Immunology (V.A.L.), and Pediatrics (E.C.W.), College of Medicine, Mayo Clinic, Rochester, MN; Euroimmun AG (L.K., C.P.), Lübeck, Germany; and Neurology (J.P.A.), Faculty of Medicine, University of Manitoba, Canada.
Papers in Europe PMC - 05Wilhelmus MM7 papers · 2016
Department of Neurology and Alzheimer Centre, Radboud University Nijmegen Medical Centre, 830 LKN, Nijmegen, 6500 HB, Netherlands.
Papers in Europe PMC - 06Lennon VA6 papers · 2018
From the Departments of Neurology (W.O.T., V.A.L., S.L.C., A.J.A., C.F.L., J.Y.M., S.J.P., P.S., M.T.-P., E.C.W., A.M.), Laboratory Medicine and Pathology (V.A.L., S.J.P., A.M.), Immunology (V.A.L.), and Pediatrics (E.C.W.), College of Medicine, Mayo Clinic, Rochester, MN; Euroimmun AG (L.K., C.P.), Lübeck, Germany; and Neurology (J.P.A.), Faculty of Medicine, University of Manitoba, Canada.
Papers in Europe PMC - 07Obando D6 papers · 2024
Department of Neurology, Johns Hopkins University, Baltimore, MD, United States.
Papers in Europe PMC - 08Balint B5 papers · 2023
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Papers in Europe PMC - 09Dalmau J5 papers · 2021
From the Neuroimmunology Program (F.G., J.D.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centre de Référence National pour les Syndromes Neurologiques Paranéoplasique (A.V., S.M.-C., J.-C.G.A., V.D., B.J., L.T., J.H.), Hôpital Neurologique, Hospices Civils de Lyon; SynatAc Team (A.V., S.M.-C., V.D., B.J., L.T., J.H.), NeuroMyoGene Institute, INSERM U1217/CNRS UMR5310, Lyon; Université Claude Bernard Lyon 1 (A.V., S.M.-C., V.D., B.J., L.T., J.H.), Université de Lyon; Service de Neurologie (J.-C.G.A.), CHU de Saint-Etienne, France; Department of Neurology (D.D., A.M.), Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; Neurology Unit (B.G.), Trento Hospital, Azienda Provinciale per I Servizi Sanitari (APSS) di Trento, Italy; Oxford Autoimmune Neurology Group (S.R.I.), Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, United Kingdom; Neuroimmunology Section (F.L.), Institute of Clinical Chemistry, University Hospital Schleswig-Holstein Kiel/Lübeck; German Center for Neurodegenerative Diseases (DZNE) Berlin (H.P.), and Department of Neurology and Experimental Neurology (H.P.), Charité-Universitätsmedizin Berlin, Germany; Centre de Compétence des Syndromes Neurologiques Paranéoplasiques et Encéphalites Autoimmunes (D.P.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Department of Neurology 2 Mazarin (D.P.), and INSERM U 1127 (D.P.), CNRS UMR 7225, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière Groupe, Hospitalier Pitié-Salpêtriêre et Université Pierre et Marie Curie-Paris 6, AP-HP, France; Department of Neurology (M.J.T.), Erasmus MC University Medical Center, Rotterdam, the Netherlands; Department of Clinical Medicine (C.A.V.), University of Bergen; Department of Neurology (C.A.V.), Haukeland University Hospital; Neuro-SysMed-Centre of Excellence for Experimental Therapy in Neurology (C.A.V.), Departments of Neurology and Clinical Medicine, Bergen, Norway; and Neurology Department (J.J.V.), Leiden University Medical Center, the Netherlands.
Papers in Europe PMC - 10de Waal RM5 papers · 2007Papers 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). 12 trials are registered for stiff-person syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
high 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.
12 interventional trials matched stiff-person syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: stiff-person syndrome
12
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
- NCT06528392·NOT YET RECRUITING·Efgartigimod for Stiff Person Syndrome (ESPS)
Conditions: Stiff-Person Syndrome·Matched via name phrase
- NCT07804004·NOT YET RECRUITING·A Safety and Efficacy Study Evaluating CTX112 in Subjects With Refractory Neurologic Autoimmune Disease
Conditions: Progressive Multiple Sclerosis (PMS) · Neuromyelitis Optica · Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease · Autoimmune Encephalitis·Matched via name phrase
- NCT07341828·NOT YET RECRUITING·A Study of C-CAR168 in the Treatment of Central Nervous System Autoimmune Diseases Refractory to Standard Therapy
Conditions: Multiple Sclerosis (MS) · Neuromyelitis Optica Spectrum Disorders (NMOSD) · Autoimmune Encephalitis · Stiff Person Syndrome·Matched via name phrase
- NCT07552987·NOT YET RECRUITING·A Study Investigating Intravenous Human Normal Immune Globulin 10% in Adults With Stiff Person Syndrome
Conditions: Stiff Person Syndrome·Matched via name phrase
- NCT06375993·ENROLLING BY INVITATION·A Phase 1 Study of Prulacabtagene Leucel (Prula-cel, Formerly ADI-001) in Autoimmune Disease
Conditions: Lupus Nephritis · Autoimmune Diseases · Systemic Sclerosis (SSc) · Systemic Lupus Erythematosus (SLE)·Matched via name phrase
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 Classic stiff person syndrome — 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.
"Classic stiff person syndrome" OR "Classic SPS" OR "Classic stiff man syndrome" OR "Classic SMS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Classic stiff person syndrome" OR "Classic SPS" OR "Classic stiff man syndrome" OR "Classic SMS"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"stiff-person syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T16:25:54.762Z