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ORPHA:70

Proximal spinal muscular atrophy

medium confidenceDisorder

Also known as: SMA

Publications

9,472

95.4th percentile

Trials

0

Interventional, condition-specific

Researchers

1,391

Distinct authors in sample

Gene link

SMN1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A group of rare genetic motor neuron disorders caused by degeneration of alpha motor neurons in the spinal cord and lower brainstem. It leads to muscle weakness predominantly affecting proximal lower limb muscles. Severity varies from severe -onset forms to milder, slowly adult-onset types.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SMN1

  2. LiteraturePresent

    9,472 matched papers (6,019 in last 10 years) Source

  3. Phenotype characterisedPresent

    255 HPO annotations (e.g. Distal lower limb muscle weakness; Hyporeflexia; Areflexia) Source

  4. Animal modelPresent

    21 genotype models (Mus musculus) Source

  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; 166 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?

Yes — we know a specific gene responsible (SMN1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

255

Associated phenotypes · MONDO:0019079

  • Distal lower limb muscle weakness
  • Hyporeflexia
  • Areflexia
  • Dysphagia
  • Ragged-red muscle fibers

Showing 5 of 255 — open Monarch for the full list.

Animal models (Monarch / Alliance)

21

Model associations linked to this Mondo ID

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

13

Drugs / clinical candidates · MONDO_0019079

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

9,472

9,472 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.

9,472 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).

6,019 in the last 10 years · medium confidence · 95.4th percentile (publications denominator)

Phrase hits: 450 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,391

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.

  1. 01
    Li H7 papers · 2026

    Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. hli@ds.dfci.harvard.edu.

    Papers in Europe PMC
  2. 02
    Li S7 papers · 2026

    The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

    Papers in Europe PMC
  3. 03
    van der Pol WL7 papers · 2026

    Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, the Netherlands.

    Papers in Europe PMC
  4. 04
    Li Y6 papers · 2026

    Department of Pediatrics, The First Affiliated Hospital, Sun Yet-sen University, Guangzhou, China.

    Papers in Europe PMC
  5. 05
    Wadman RI6 papers · 2026

    Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, the Netherlands.

    Papers in Europe PMC
  6. 06
    Yang J6 papers · 2026

    National Clinical Research Center for Mental Disorders, The Second Xiangya Hospital of Central South University, Changsha, China. Electronic address: yang0826@csu.edu.cn.

    Papers in Europe PMC
  7. 07
    Asselman FL5 papers · 2026

    Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, the Netherlands.

    Papers in Europe PMC
  8. 08
    Huang X5 papers · 2026

    Department of Clinical Pharmacy, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.

    Papers in Europe PMC
  9. 09
    Wirth B5 papers · 2026

    Institute of Human Genetics, University Hospital of Cologne, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  10. 10
    Yang X5 papers · 2026

    School of Laboratory Medicine and Biotechnology, 70570 Institute of Antibody Engineering, Southern Medical University , Guangzhou, China.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 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 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.

166 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

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

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 2026-07-29

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

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 3.

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.

("Proximal spinal muscular atrophy") OR ("SMN1" OR "SMN1 syndrome" OR "SMN1-related")

Run this search on Europe PMC

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

"Proximal spinal muscular atrophy"

Study-type breakdown: 0 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; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SMA

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 2026-07-26T12:18:06.726Z