ORPHA:83419
Proximal spinal muscular atrophy type 3
Also known as: Juvenile spinal muscular atrophy · Kugelberg-Welander disease · SMA type 3 · SMA type III · SMA-III · SMA3
Publications
1,897
93.5th percentile
Trials
23
Interventional, condition-specific
Researchers
1,346
Distinct authors in sample
Gene link
SMN1, SMN2
Strong
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 between 18 months and 18 years of age and associated with slowly , predominantly proximal muscle weakness. By definition, individuals with proximal spinal muscular atrophy (SMA) type 3 achieve independent ambulation before symptom onset, but ambulation may be lost over the course of the disease.
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:0009672
- OMIM:253400
- UMLS:C0152109
- NCIT:C118847
Additional Mondo synonyms (7)
Kugelberg Welander Syndrome · spinal muscular atrophy III · spinal muscular atrophy type 3 · spinal muscular atrophy, familial · spinal muscular atrophy, type III · spinal muscular atrophy, type III, modifier of · spinal muscular atrophy-3
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
Strong — SMN1, SMN2
- LiteraturePresent
1,897 matched papers (1,153 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
23 matched on ClinicalTrials.gov (3 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, SMN2).
GenCC classification: Strong.
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?
1,897
1,897 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,897 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).
1,153 in the last 10 years · medium confidence · 93.5th percentile (publications denominator)
Phrase hits: 1,897 · MeSH hits: 0
Who's working on it?
1,346
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 E11 papers · 2026
Department of Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Papers in Europe PMC - 02Coratti G9 papers · 2026
Department of Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Papers in Europe PMC - 03Darras BT9 papers · 2026
Department of Neurology, Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 04Montes J9 papers · 2026
Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA (J.M.)
Papers in Europe PMC - 05Pera MC9 papers · 2026
Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Papers in Europe PMC - 06Bruno C8 papers · 2026
Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Papers in Europe PMC - 07D'Amico A8 papers · 2026
Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Papers in Europe PMC - 08Pane M8 papers · 2026
Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Papers in Europe PMC - 09Muntoni F7 papers · 2026
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom.
Papers in Europe PMC - 10Sansone VA7 papers · 2026
Centro Clinico NeMO Milano, UOC Neuroriabilitazione Neurologica, Universita degli Studi di Milano, Dipartimento di Neurologia, Milan, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
23
interventional trials for this specific condition
23 interventional trials matched this specific condition name; 3 currently recruiting in our sample.
Data as of 27 July 2026
23 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.9th percentile).
medium confidence · 94.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
23 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07047144·RECRUITING·A Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy
Conditions: Spinal Muscular Atrophy · SMA · Spinal Muscular Atrophy Type 2 · Spinal Muscular Atrophy Type 3·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
- NCT06421831·RECRUITING·Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 3 Patients
Conditions: Spinal Muscular Atrophy Type 3·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
9 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
- NCT07400198·RECRUITING·Gait and Bone Health in SMA
Conditions: Spinal Muscular Atrophy Type 3 · Ambulatory Spinal Muscular Atrophy·Matched via name phrase
- NCT06839469·RECRUITING·Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
Conditions: Spinal Muscular Atrophy Type 3 · Duchenne Muscular Dystrophy (DMD)·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 3" OR "Juvenile spinal muscular atrophy" OR "Kugelberg-Welander disease" OR "SMA type 3" OR "SMA type III" OR "SMA-III" OR "Kugelberg Welander Syndrome" OR "spinal muscular atrophy III" OR "spinal muscular atrophy type 3" OR "spinal muscular atrophy, familial" OR "spinal muscular atrophy, type III" OR "spinal muscular atrophy, type III, modifier of" OR "spinal muscular atrophy-3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Proximal spinal muscular atrophy type 3" OR "Juvenile spinal muscular atrophy" OR "Kugelberg-Welander disease" OR "SMA type 3" OR "SMA type III" OR "SMA-III" OR "Kugelberg Welander Syndrome" OR "spinal muscular atrophy III" OR "spinal muscular atrophy type 3" OR "spinal muscular atrophy, familial" OR "spinal muscular atrophy, type III" OR "spinal muscular atrophy, type III, modifier of" OR "spinal muscular atrophy-3" OR "SMN1" OR "SMN2"
Recall-expansion terms: SMN1, SMN2
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: 23 interventional · 9 observational · 0 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: SMA3
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 2026-07-27T02:35:08.907Z