Disease · MONDO_0019079
proximal spinal muscular atrophy
6 sourcesdiseases-2026-09-18-0.1.0
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ConductScience Library. proximal spinal muscular atrophy. Diseases, record MONDO_0019079. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0019079
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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.
Drugs13
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 | Phase 3 | ClinicalTrials.gov | 10 | 10 | 10 | Drugs and targets |
| VALPROIC ACID | CHEMBL109 | Small molecule | Phase 3 | ClinicalTrials.gov | 4 | 4 | 4 | Drugs and targets |
| APITEGROMAB | CHEMBL4594326 | Antibody | Phase 3 | ClinicalTrials.gov | 3 | 3 | 3 | Drugs and targets |
| LEVOCARNITINE | CHEMBL1149 | Small molecule | Phase 3 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| ONASEMNOGENE ABEPARVOVEC | CHEMBL4297240 | Gene | Phase 3 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| TALDEFGROBEP ALFA | CHEMBL4297914 | Protein | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| DALFAMPRIDINE | CHEMBL284348 | Small molecule | Phase 2/3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| HYDROXYUREA | CHEMBL467 | Small molecule | Phase 2/3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| PYRIDOSTIGMINE | CHEMBL1115 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| RELDESEMTIV | CHEMBL4297600 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
1 to 10 of 13
See all 13 drugsTargets51
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 | Phase 3 | 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 3 | https://conductscience.org/library/genes/7915 | Drugs and targets |
| KCNA1 | Voltage-gated potassium channel | 1 | Voltage-gated potassium channel blocker | Phase 2/3 | https://conductscience.org/library/genes/3736 | Drugs and targets |
| KCNA10 | Voltage-gated potassium channel | 1 | Voltage-gated potassium channel blocker | Phase 2/3 | https://conductscience.org/library/genes/3744 | Drugs and targets |
| KCNA2 | Voltage-gated potassium channel | 1 | Voltage-gated potassium channel blocker | Phase 2/3 | https://conductscience.org/library/genes/3737 | Drugs and targets |
| KCNA3 | Voltage-gated potassium channel | 1 | Voltage-gated potassium channel blocker | Phase 2/3 | https://conductscience.org/library/genes/3738 | Drugs and targets |
| KCNA4 | Voltage-gated potassium channel | 1 | Voltage-gated potassium channel blocker | Phase 2/3 | https://conductscience.org/library/genes/3739 | Drugs and targets |
| KCNA5 | Voltage-gated potassium channel | 1 | Voltage-gated potassium channel blocker | Phase 2/3 | https://conductscience.org/library/genes/3741 | Drugs and targets |
| KCNA6 | Voltage-gated potassium channel | 1 | Voltage-gated potassium channel blocker | Phase 2/3 | https://conductscience.org/library/genes/3742 | Drugs and targets |
1 to 10 of 51
See all 51 targetsTrials27
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 |
|---|---|---|---|---|---|---|---|---|
| NCT02594124 | A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies | Phase 3 | 292 | 2024-10-22 | Spinal Muscular Atrophy | NUSINERSEN | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT03032172 | A Study of Risdiplam (RO7034067) in Adult and Pediatric Participants With Spinal Muscular Atrophy | Phase 2 | 174 | 2025-10-01 | Spinal Muscular Atrophy | RISDIPLAM | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT02292537 | A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Participants With Later-onset Spinal Muscular Atrophy (SMA) | Phase 3 | 126 | 2018-02-22 | Spinal Muscular Atrophy | NUSINERSEN | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT02193074 | A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy | Phase 3 | 122 | 2017-07-28 | Spinal Muscular Atrophy | NUSINERSEN | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT00227266 | Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy | Phase 2 | 94 | 2011-05-03 | Spinal Muscular Atrophy | LEVOCARNITINE, VALPROIC ACID | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT02644668 | A Study of CK-2127107 in Patients With Spinal Muscular Atrophy | Phase 2 | 70 | 2020-08-31 | Spinal Muscular Atrophy | RELDESEMTIV | Open Targets' reading of its record | 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 |
| NCT02268552 | An Open Label Study of LMI070 (Branaplam) in Type 1 Spinal Muscular Atrophy (SMA) | Phase 1/2 | 40 | 2025-04-09 | Spinal Muscular Atrophy | BRANAPLAM | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT01703988 | An Open-label Safety, Tolerability and Dose-Range Finding Study of Multiple Doses of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy | Phase 1/2 | 34 | 2017-03-13 | Spinal Muscular Atrophy | NUSINERSEN | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT03381729 | Study of Intrathecal Administration of Onasemnogene Abeparvovec-xioi for Spinal Muscular Atrophy | Phase 1 | 32 | 2023-02-16 | Spinal Muscular Atrophy | ONASEMNOGENE ABEPARVOVEC | Open Targets' reading of its record | ClinicalTrials.gov |
1 to 10 of 27
See all 27 trialsComparisons in its trials12
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 |
|---|---|---|---|---|---|
| Nusinersen vs Sham Procedure: Number of Participants With Abnormal, Clinically Relevant Post-Baseline Worsening in Electrocardiogram (ECG) in Results | 0 of 84 | 2 of 42 | 126 | NCT02292537 | Trial comparisons |
| Nusinersen vs Sham Procedure: Number of Participants Taking Any Concomitant Medication Related to Dosing Procedure or Sham Procedure | 84 of 84 | 42 of 42 | 126 | NCT02292537 | Trial comparisons |
| Nusinersen vs Sham Procedure: deaths from any cause | 0 of 84 | 0 of 42 | 126 | NCT02292537 | Trial comparisons |
| Nusinersen vs Sham Procedure: serious adverse events | 14 of 84 | 12 of 42 | 126 | NCT02292537 | Trial comparisons |
| Nusinersen vs Control: Number of Participants With Clinically Significant Changes From Baseline in Urinalysis Values | 0 of 80 | 0 of 41 | 121 | NCT02193074 | Trial comparisons |
| Nusinersen vs Control: serious adverse events | 61 of 80 | 39 of 41 | 121 | NCT02193074 | Trial comparisons |
| Cohort 1: Bi-allelic Deletions of SMN1 and 2 Copies of SMN2 vs Cohort 2: Bi-allelic Deletions of SMN1 and 3 Copies of SMN2: deaths from any cause | 0 of 14 | 0 of 15 | 29 | NCT03505099 | Trial comparisons |
| Cohort 1: Bi-allelic Deletions of SMN1 and 2 Copies of SMN2 vs Cohort 2: Bi-allelic Deletions of SMN1 and 3 Copies of SMN2: serious adverse events | 5 of 14 | 3 of 15 | 29 | NCT03505099 | Trial comparisons |
| Nusinersen 6 mg vs Nusinersen 12 mg: deaths from any cause | 1 of 4 | 4 of 16 | 20 | NCT01839656 | Trial comparisons |
| Nusinersen 6 mg vs Nusinersen 12 mg: serious adverse events | 3 of 4 | 13 of 16 | 20 | NCT01839656 | Trial comparisons |
1 to 10 of 12
See all 12 comparisons in its trialsPapers from its trials22
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 |
|---|---|---|---|
| 40818473 | DERIVED | 1 | PubMed |
| 38705943 | DERIVED | 2 | PubMed |
| 38330285 | DERIVED | 1 | PubMed |
| 37148485 | DERIVED | 1 | PubMed |
| 36632180 | DERIVED | 1 | PubMed |
| 35715567 | DERIVED | 1 | PubMed |
| 35715566 | DERIVED | 1 | PubMed |
| 35241644 | DERIVED | 1 | PubMed |
| 34383289 | DERIVED | 1 | PubMed |
| 34089650 | DERIVED | 1 | PubMed |
1 to 10 of 22
See all 22 papers from its trialsData 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_0019079
GET https://conductscience.org/api/diseases/v1/MONDO_0019079/targets?page=2