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ORPHA:83330

Proximal spinal muscular atrophy type 1

medium confidenceSubtype of disorder

Also known as: Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy · SMA type 1 · SMA type I · SMA-I · SMA1 · Werdnig-Hoffmann disease

Publications

19,447

96.5th percentile

Trials

11

Interventional, condition-specific

Researchers

1,381

Distinct authors in sample

Gene link

SMN1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem manifesting within the first six months of life with severe and muscle weakness, including respiratory insufficiency and dysphagia. Classically, before the introduction of disease-modifying therapies, patients with proximal spinal muscular atrophy (SMA) type 1 never achieved independent sitting.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

SMNI · Werdnig Hoffmann disease · Werdnig-Hoffman disease · Werdnig-Hoffmann Disease · severe infantile spinal muscular atrophy · spinal muscular atrophy-1 · survival motor neuron 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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SMN1

  2. LiteraturePresent

    19,447 matched papers (8,403 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Decreased fetal movement; EMG: neuropathic changes; Areflexia) Source

  4. Animal modelPresent

    18 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 trialPresent

    11 matched on ClinicalTrials.gov (4 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?

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

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

14

Associated phenotypes · MONDO:0009669

  • Decreased fetal movement
  • EMG: neuropathic changes
  • Areflexia
  • Generalized hypotonia
  • Ventricular septal defect

Showing 5 of 14 — open Monarch for the full list.

Animal models (Monarch / Alliance)

18

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

3

Drugs / clinical candidates · MONDO_0009669

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

19,447

19,447 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.

19,447 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).

8,403 in the last 10 years · medium confidence · 96.5th percentile (publications denominator)

Phrase hits: 12,018 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,381

Distinct author names in 200 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
    Mercuri E14 papers · 2026

    Pediatric Neurology Unit, Catholic University, Rome, Italy.

    Papers in Europe PMC
  2. 02
    Coratti G12 papers · 2026

    Pediatric Neurology Unit, Catholic University, Rome, Italy.

    Papers in Europe PMC
  3. 03
    Pane M11 papers · 2026

    Pediatric Neurology Unit, Catholic University, Rome, Italy.

    Papers in Europe PMC
  4. 04
    Catteruccia M7 papers · 2026

    Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

    Papers in Europe PMC
  5. 05
    D'Amico A7 papers · 2026

    Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

    Papers in Europe PMC
  6. 06
    Pera MC7 papers · 2025

    Pediatric Neurology Unit, Catholic University, Rome, Italy.

    Papers in Europe PMC
  7. 07
    Coello-Villalón M6 papers · 2026

    Hemichild-Research-UNIT, Faculty of Physiotherapy and Nursing, Universidad de Castilla-La Mancha, Toledo, Spain.

    Papers in Europe PMC
  8. 08
    López-Muñoz P6 papers · 2026

    Faculty of Physiotherapy and Nursing. Department of Nursing, Physiotherapy and Occupational Therapy, Universidad de Castilla-La Mancha, Toledo, Spain.

    Papers in Europe PMC
  9. 09
    Nishio H6 papers · 2025

    Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Kobe 650-0017, Japan.

    Papers in Europe PMC
  10. 10
    Palermo C6 papers · 2026

    Pediatric Neurology Unit, Catholic University, Rome, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).

medium confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: proximal spinal muscular atrophy

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Observational and natural-history studies

5 observational studies match 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 2026-07-30

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 Proximal spinal muscular atrophy type 1 — 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.

("Proximal spinal muscular atrophy type 1" OR "Infantile spinal muscular atrophy" OR "Infantile-onset spinal muscular atrophy" OR "SMA type 1" OR "SMA type I" OR "SMA-I" OR "Werdnig-Hoffmann disease" OR "Werdnig Hoffmann disease" OR "Werdnig-Hoffman disease" OR "severe infantile spinal muscular atrophy" OR "spinal muscular atrophy-1" OR "survival motor neuron 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 type 1" OR "Infantile spinal muscular atrophy" OR "Infantile-onset spinal muscular atrophy" OR "SMA type 1" OR "SMA type I" OR "SMA-I" OR "Werdnig-Hoffmann disease" OR "Werdnig Hoffmann disease" OR "Werdnig-Hoffman disease" OR "severe infantile spinal muscular atrophy" OR "spinal muscular atrophy-1" OR "survival motor neuron spinal muscular atrophy"

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

Study-type breakdown: 11 interventional · 5 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"proximal spinal muscular atrophy"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SMA1; SMNI

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T02:34:36.022Z