Evidence map›Paper›PMID 35927425›Full record

ReviewNature reviews. Disease primers2022

Spinal muscular atrophy.

Eugenio Mercuri, Charlotte J Sumner, Francesco Muntoni, Basil T Darras, Richard S Finkel

Registry-linked trialAbstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Disease primers, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07336602 (Immediate and Sustained Effects of Intensive Neuroproprioceptive Equine-Assisted Physiotherapy in Children With Spinal Muscular Atrophy), which is not on this map. Cited by 260 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
260citing papers in PubMed, 3 pooled it
53.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT07336602 nanot yet recruitingnot on this mapstarted 2026, after this paper: background citation

Immediate and Sustained Effects of Intensive Neuroproprioceptive Equine-Assisted Physiotherapy in Children With Spinal Muscular Atrophy: A Randomized Crossover Trial

TypeinterventionalSponsorCharles University, Czech RepublicRan2026 to 2026Enrolled20ConditionsSpinal Muscular Atrophy (SMA)ArmsEquine-Assisted Physiotherapy based on Neuro-proprioceptive "Facilitation and Inhibition", Standard Individual Outpatient Physiotherapy Based on Neuro-proprioceptive Facilitation and Inhibition, Therapeutic grooming
3 · Its place in the literature

Who cites it

260 citing papers in PubMed, 3 syntheses or guidelines pooled it, 383 citations in OpenAlex.

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  9. Neurology. Genetics · 2026
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200 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 5 institutions in 3 countries.

Eugenio MercuriPaediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. eugeniomaria.mercuri@policlinicogemelli.it.
Charlotte J SumnerDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Francesco MuntoniDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.ORCID 0000-0002-9102-5232
Basil T DarrasDepartment of Neurology, Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Richard S FinkelCenter for Experimental Neurotherapeutics, Department of Paediatric Medicine, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID 0000-0002-9351-7054
Boston Children's Hospital · USGreat Ormond Street Hospital · GBJohns Hopkins University · USSt. Jude Children's Research Hospital · USUniversità Cattolica del Sacro Cuore · IT

Funding

Translating Pathomechanisms into Treatment for Spinal Muscular AtrophiesR35NS122306 · NINDS · JOHNS HOPKINS UNIVERSITY · PI Charlotte Jane Sumner · 2021 to 2026
$6.3M
NINDS NIH HHS R35 NS122306
6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-of-care recommendations for multidisciplinary supportive care of SMA were established in the past few decades. However, improved understanding of the pathogenetic mechanisms of SMA has led to the development of different therapeutic approaches. Three treatments that increase SMN expression by distinct molecular mechanisms, administration routes and tissue biodistributions have received regulatory approval with others in clinical development. The advent of the new therapies is redefining standards of care as in many countries most patients are treated with one of the new therapies, leading to the identification of emerging new phenotypes of SMA and a renewed characterization of demographics owing to improved patient survival.

Indexed as

Muscular Atrophy, SpinalHumansMotor NeuronsMutationPhenotype

Identifiers

PMID35927425
OpenAlexW4289755145

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.