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ORPHA:431255

Scapuloperoneal spinal muscular atrophy

high confidenceDisorder

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

Publications

130

60.9th percentile

Trials

2

Interventional, condition-specific

Researchers

922

Distinct authors in sample

Gene link

TRPV4

Moderate

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Moderate — TRPV4

  2. LiteraturePresent

    130 matched papers (73 in last 10 years) 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 trialPresent

    2 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?

Probably — there is moderate evidence for TRPV4.

GenCC classification: Moderate.

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?

130

130 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=5449) is 41.

130 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

73 in the last 10 years · high confidence · 60.9th percentile (publications denominator)

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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 166 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 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

high confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: spinal muscular atrophy

166

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

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"

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" OR "TRPV4"

Recall-expansion terms: TRPV4

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"spinal muscular atrophy"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-27T15:59:09.793Z