ORPHA:83330
Proximal spinal muscular atrophy type 1
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
12,018
96.8th percentile
Trials
12
Interventional, condition-specific
Researchers
1,381
Distinct authors in sample
Gene link
SMN1
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009669
- OMIM:253300
- UMLS:C5848259
- NCIT:C98670
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — SMN1
- LiteraturePresent
12,018 matched papers (3,707 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
12 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)
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?
12,018
12,018 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=5449) is 41.
12,018 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).
3,707 in the last 10 years · medium confidence · 96.8th percentile (publications denominator)
Phrase hits: 12,018 · MeSH hits: 0
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.
- 01Mercuri E14 papers · 2026
Pediatric Neurology Unit, Catholic University, Rome, Italy.
Papers in Europe PMC - 02Coratti G12 papers · 2026
Pediatric Neurology Unit, Catholic University, Rome, Italy.
Papers in Europe PMC - 03Pane M11 papers · 2026
Pediatric Neurology Unit, Catholic University, Rome, Italy.
Papers in Europe PMC - 04Catteruccia M7 papers · 2026
Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 05D'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 - 06Pera MC7 papers · 2025
Pediatric Neurology Unit, Catholic University, Rome, Italy.
Papers in Europe PMC - 07Coello-Villalón M6 papers · 2026
Hemichild-Research-UNIT, Faculty of Physiotherapy and Nursing, Universidad de Castilla-La Mancha, Toledo, Spain.
Papers in Europe PMC - 08López-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 - 09Nishio 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 - 10Palermo C6 papers · 2026
Pediatric Neurology Unit, Catholic University, Rome, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
12
interventional trials for this specific condition
12 interventional trials matched this specific condition name; 4 currently recruiting in our sample.
Data as of 27 July 2026
12 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.5th percentile).
medium confidence · 92.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
12 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05824169·RECRUITING·Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients
Conditions: Spinal Muscular Atrophy·Matched via name phrase
- NCT06562283·RECRUITING·Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy
Conditions: Spinal Amyotrophy · Infantile Spinal Muscular Atrophy · Juvenile Spinal Muscular Atrophy·Matched via name phrase
- NCT07554924·NOT YET RECRUITING·A Phase I/II Clinical Study to Evaluate SKG0201 Injection in Subjects With Spinal Muscular Atrophy Type I
Conditions: Spinal Muscular Atrophy 1·Matched via name phrase
- NCT06152302·RECRUITING·Test of Aquatic Mobility of SMA Infants
Conditions: Infantile Spinal Muscular Atrophy·Matched via name phrase
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
6 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
- NCT07596277·NOT YET RECRUITING·Exploring Lived Experiences of Families of Children With Spinal Muscular Atrophy(SMA) Type 1 Regarding Feeding and Communication
Conditions: Spinal Muscular Atrophy 1·Matched via name phrase
- NCT07208903·NOT YET RECRUITING·Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions
Conditions: Spinal Muscular Atrophy (SMA) · Spinal Muscular Atrophy Type I·Matched via name phrase
- NCT05954455·RECRUITING·Exploring Bulbar Function, Speech And Communication Development in SMA Type 1
Conditions: SMA1·Matched via name phrase
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 2026-07-26Likely 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"
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" OR "SMN1"
Recall-expansion terms: SMN1
Interventional trials matched via: phrase, 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: 12 interventional · 6 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, recall-expansion; with hits: phrase, recall-expansion
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