Disease · MONDO_0009669
spinal muscular atrophy, type 1
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. spinal muscular atrophy, type 1. Diseases, record MONDO_0009669. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0009669
On this page
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.
- Other names
Infantile spinal muscular atrophy, Proximal spinal muscular atrophy type 1, SMA type 1, SMA type I, SMA-I, SMA1, SMNI, Werdnig Hoffmann disease, Werdnig-Hoffman disease, severe infantile spinal muscular atrophy, spinal muscular atrophy-1, survival motor neuron spinal muscular atrophy
- Open Targets
Drugs3
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 SODIUM | CHEMBL3833342 | Oligonucleotide | Approval | PMDA | 1 | 0 | 0 | Drugs and targets |
| RISDIPLAM | CHEMBL4297528 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| ONASEMNOGENE ABEPARVOVEC | CHEMBL4297240 | Gene | Phase 1 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
Targets2
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 | 3 | SMN2 pre-mRNA positive modulator; Survival motor neuron protein exogenous gene | Approval | https://conductscience.org/library/genes/6607 | Drugs and targets |
| SMN1 | Survival motor neuron protein | 1 | Survival motor neuron protein exogenous gene | Phase 1 | https://conductscience.org/library/genes/6606 | Drugs and targets |
Trials2
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.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT02122952 | Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 | Phase 1 | 15 | 2019-05-10 | Spinal Muscular Atrophy 1 | ONASEMNOGENE ABEPARVOVEC | Its record names the disease | ClinicalTrials.gov |
| NCT07070999 | Study of Safety, Tolerability and Efficacy of GB221 in Infants With Spinal Muscular Atrophy Type 1 | Phase 1/2 | 22 | Spinal Muscular Atrophy Type I | RISDIPLAM | Its record names the disease | ClinicalTrials.gov |
Comparisons in its trials5
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 |
|---|---|---|---|---|---|
| Cohort 1 vs Cohort 2: Number of Participants With Assessed Improvement in Motor Function | 0 of 3 | 9 of 12 | 15 | NCT02122952 | Trial comparisons |
| Cohort 1 vs Cohort 2: Number of Participants That Experienced One Grade III or Higher Unanticipated, Treatment-related Toxicity That Presents With Clinical Symptoms and Requires Medical Treatment | 1 of 3 | 3 of 12 | 15 | NCT02122952 | Trial comparisons |
| Cohort 1 vs Cohort 2: Number of Participants Who Experienced Permanent Ventilation or Death | 0 of 3 | 0 of 12 | 15 | NCT02122952 | Trial comparisons |
| Cohort 1 vs Cohort 2: deaths from any cause | 0 of 3 | 0 of 12 | 15 | NCT02122952 | Trial comparisons |
| Cohort 1 vs Cohort 2: serious adverse events | 3 of 3 | 10 of 12 | 15 | NCT02122952 | Trial comparisons |
Papers from its trials6
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
Data dates
The date of each source this release read.
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_0009669
GET https://conductscience.org/api/diseases/v1/MONDO_0009669/drugs