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ORPHA:431255

Scapuloperoneal spinal muscular atrophy

low confidenceDisorder

Also known as: Neurogenic scapuloperoneal amyotrophy, New England type · SPSMA · Scapuloperoneal neuronopathy

Publications

10,907

Trials

0

Interventional, condition-specific

Researchers

922

Distinct authors in sample

Gene link

TRPV4

Moderate

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral manifesting with scapuloperoneal muscular atrophy and weakness, laryngeal palsy, absence of muscles, and, in some, skeletal abnormalities.

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 (3)

neurogenic scapuloperoneal amyotrophy, New England type · scapuloperoneal neuronopathy · scapuloperoneal spinal muscular atrophy

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Moderate — TRPV4

  2. LiteraturePresent

    10,907 matched papers (8,046 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Distal sensory impairment; Muscle fiber splitting; Motor delay) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 169 for broader category spinal muscular atrophy

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?

Probably — there is moderate evidence for TRPV4.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

31

Associated phenotypes · MONDO:0008408

  • Distal sensory impairment
  • Muscle fiber splitting
  • Motor delay
  • Hoarse voice
  • Metatarsus adductus

Showing 5 of 31 — open Monarch for the full list.

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?

10,907

10,907 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,907 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).

8,046 in the last 10 years · low confidence

Phrase hits: 130 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

922

Distinct author names in 130 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.

  1. 01
    Sumner CJ8 papers · 2026

    Department of Neurology (J.M.S., W.A., B.B., C.J.S.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Molecular and Cellular Biology (C.M.Z., R.G.), Harvard University, Cambridge, MA; Department of Neurology (D.-H.C., T.D.B.), University of Washington School of Medicine, Seattle, WA; Department of Neurology (J.W.D., C.E.S.), Stanford Health Care, Stanford, CA; and Department of Neuroscience (C.J.S.), Johns Hopkins University, Baltimore, MD.

    Papers in Europe PMC
  2. 02
    Siddique T7 papers · 2020

    The Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

    Papers in Europe PMC
  3. 03
    Deng HX6 papers · 2020

    Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. h-deng@northwestern.edu

    Papers in Europe PMC
  4. 04
    Gaudet R6 papers · 2026

    Department of Neurology (J.M.S., W.A., B.B., C.J.S.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Molecular and Cellular Biology (C.M.Z., R.G.), Harvard University, Cambridge, MA; Department of Neurology (D.-H.C., T.D.B.), University of Washington School of Medicine, Seattle, WA; Department of Neurology (J.W.D., C.E.S.), Stanford Health Care, Stanford, CA; and Department of Neuroscience (C.J.S.), Johns Hopkins University, Baltimore, MD.

    Papers in Europe PMC
  5. 05
    McCray BA6 papers · 2026

    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  6. 06
    Reilly MM5 papers · 2025

    1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK m.reilly@ucl.ac.uk.

    Papers in Europe PMC
  7. 07
    Dyck PJ4 papers · 2011
    Papers in Europe PMC
  8. 08
    Klein CJ4 papers · 2013

    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  9. 09
    Nilius B4 papers · 2013

    Department of Molecular Cell Biology, Laboratory of Ion Channel Research, Campus Gasthuisberg, KU Leuven, Herestraat 49, B-3000 Leuven, Belgium.

    Papers in Europe PMC
  10. 10
    Shi Y4 papers · 2020

    The Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

    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). 169 trials are registered for spinal muscular atrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 26 October 2026 · last trial check 26 October 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5498 of 7126). Here are the researchers publishing on it.

low 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.

169 interventional trials matched spinal muscular atrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: spinal muscular atrophy

169

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

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 Scapuloperoneal spinal muscular atrophy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Spinal muscular atrophy as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 3 — high-cost / lifelong therapy with careful selection

Up to ₹50 lakh per patient

Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.

Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Scapuloperoneal spinal muscular atrophy" OR "Neurogenic scapuloperoneal amyotrophy, New England type" OR "SPSMA" OR "Scapuloperoneal neuronopathy") OR ("TRPV4" OR "TRPV4 syndrome" OR "TRPV4-related")

Run this search on Europe PMC

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

"Scapuloperoneal spinal muscular atrophy" OR "Neurogenic scapuloperoneal amyotrophy, New England type" OR "SPSMA" OR "Scapuloperoneal neuronopathy"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"spinal muscular atrophy"

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
  • Publication count (10907) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:59:09.793Z