Disease · MONDO_0001516

spinal muscular atrophy

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. spinal muscular atrophy. Diseases, record MONDO_0001516. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0001516

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: spinal muscular atrophy; Open Targets
Open Targets ID: MONDO_0001516; Open Targets
Disease Ontology: DOID:12377; Disease Ontology
MeSH: D009134; MeSH
NCI Thesaurus: C85075; NCI Thesaurus
Highest stage of its drugs: Approval, for 5 of its 22 drugs, from ClinicalTrials.gov, EMA Human Drugs, FDA and TTD; Open Targets

Drugs22

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
NUSINERSEN	CHEMBL3301572	Oligonucleotide	Approval	EMA Human Drugs and TTD	19	17	17	Drugs and targets
RISDIPLAM	CHEMBL4297528	Small molecule	Approval	ClinicalTrials.gov, EMA Human Drugs, FDA and TTD	15	11	11	Drugs and targets
ONASEMNOGENE ABEPARVOVEC	CHEMBL4297240	Gene	Approval	EMA Human Drugs and TTD	13	9	8	Drugs and targets
SODIUM PHENYLBUTYRATE	CHEMBL1746	Small molecule	Approval	TTD	3	2	2	Drugs and targets
NUSINERSEN SODIUM	CHEMBL3833342	Oligonucleotide	Approval	FDA	2	1	1	Drugs and targets
APITEGROMAB	CHEMBL4594326	Antibody	Phase 3	ClinicalTrials.gov	7	5	5	Drugs and targets
SALANERSEN	CHEMBL6068460	Oligonucleotide	Phase 3	ClinicalTrials.gov	5	3	3	Drugs and targets
BRANAPLAM	CHEMBL4290141	Small molecule	Phase 3	TTD	2	0	0	Drugs and targets
EMUGROBART	CHEMBL6068245	Antibody	Phase 2/3	ClinicalTrials.gov	2	1	1	Drugs and targets
RILUZOLE	CHEMBL744	Small molecule	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets

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See all 22 drugs

Targets63

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
SMN2	SMN2 pre-mRNA	4	SMN2 pre-mRNA positive modulator; Survival motor neuron protein exogenous gene	Approval	https://conductscience.org/library/genes/6607	Drugs and targets
ACHE	Acetylcholinesterase	1	Acetylcholinesterase inhibitor	Phase 2	https://conductscience.org/library/genes/43	Drugs and targets
ALDH5A1	Succinate-semialdehyde dehydrogenase, mitochondrial	1	Succinate semialdehyde dehydrogenase inhibitor	Phase 1/2	https://conductscience.org/library/genes/7915	Drugs and targets
GHR	Growth hormone receptor	1	Growth hormone receptor agonist	Phase 2	https://conductscience.org/library/genes/2690	Drugs and targets
KCNA1	Voltage-gated potassium channel	1	Voltage-gated potassium channel blocker	Phase 2	https://conductscience.org/library/genes/3736	Drugs and targets
KCNA10	Voltage-gated potassium channel	1	Voltage-gated potassium channel blocker	Phase 2	https://conductscience.org/library/genes/3744	Drugs and targets
KCNA2	Voltage-gated potassium channel	1	Voltage-gated potassium channel blocker	Phase 2	https://conductscience.org/library/genes/3737	Drugs and targets
KCNA3	Voltage-gated potassium channel	1	Voltage-gated potassium channel blocker	Phase 2	https://conductscience.org/library/genes/3738	Drugs and targets
KCNA4	Voltage-gated potassium channel	1	Voltage-gated potassium channel blocker	Phase 2	https://conductscience.org/library/genes/3739	Drugs and targets
KCNA5	Voltage-gated potassium channel	1	Voltage-gated potassium channel blocker	Phase 2	https://conductscience.org/library/genes/3741	Drugs and targets

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Trials54

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 1 more is not shown, since the checks do not confirm it.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT02908685	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Type 2 and 3 Spinal Muscular Atrophy (SMA) Participants	Phase 2	231	2021-06-15	Muscular Atrophy, Spinal	RISDIPLAM	Its record names the disease	ClinicalTrials.gov
NCT04089566	Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy	Phase 3	145	2025-06-05	Muscular Atrophy, Spinal	NUSINERSEN	Its record names the disease	ClinicalTrials.gov
NCT02628743	A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Patients With Spinal Muscular Atrophy (SMA)	Phase 2	131	2019-08-09	Muscular Atrophy, Spinal	OLESOXIME	Its record names the disease	ClinicalTrials.gov
NCT02913482	Investigate Safety, Tolerability, PK, PD and Efficacy of Risdiplam (RO7034067) in Infants With Type1 Spinal Muscular Atrophy	Phase 2	62	2021-01-08	Muscular Atrophy, Spinal	RISDIPLAM	Its record names the disease	ClinicalTrials.gov
NCT03921528	An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy	Phase 2	58	2022-11-17	Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy Type 2, SMA, Neuromuscular Diseases, Muscular Atrophy, Atrophy, Muscular Atrophy, Spinal, Neuromuscular Manifestations	APITEGROMAB	Its record names the disease	ClinicalTrials.gov
NCT00661453	CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I	Phase 1/2	40	2015-06-15	Spinal Muscular Atrophy Type I	LEVOCARNITINE, VALPROIC ACID	Its record names the disease	ClinicalTrials.gov
NCT03461289	Single-Dose Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1	Phase 3	33	2021-04-02	SMA	ONASEMNOGENE ABEPARVOVEC	Its record names the disease	ClinicalTrials.gov
NCT00568698	A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients	Phase 1/2	29	2019-10-02	Muscular Atrophy, Spinal	HYDROXYUREA	Its record names the disease	ClinicalTrials.gov
NCT00568802	A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients	Phase 1/2	27	2019-10-02	Muscular Atrophy, Spinal	HYDROXYUREA	Its record names the disease	ClinicalTrials.gov
NCT03779334	A Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy	Phase 2	26	2024-03-05	Muscular Atrophy, Spinal	RISDIPLAM	Its record names the disease	ClinicalTrials.gov

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Comparisons in its trials2

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Amifampridine vs Placebo: deaths from any cause	0 of 12	0 of 12	24	NCT03781479	Trial comparisons
Amifampridine vs Placebo: serious adverse events	0 of 12	0 of 12	24	NCT03781479	Trial comparisons

Papers from its trials31

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
29443664	RESULT	1	PubMed
29091570	RESULT	1	PubMed
24300782	RESULT	1	PubMed
42385757	DERIVED	1	PubMed
42265796	DERIVED	1	PubMed
42104555	DERIVED	1	PubMed
42016922	DERIVED	1	PubMed
41634391	DERIVED	1	PubMed
41512690	DERIVED	1	PubMed
41217888	DERIVED	1	PubMed

1 to 10 of 31

See all 31 papers from its trials

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0001516

GET https://conductscience.org/api/diseases/v1/MONDO_0001516/drugs?page=2

API reference For AI assistants