DeCure for Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAutosomal dominant childhood-onset proximal spinal muscular atrophy without contractures maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) — DYNC1H1 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet adpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9BLZ · 2.2 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.
What the evidence adds up to
The 1997 abstract identifies the genetic cause of proximal childhood spinal muscular atrophy as a recessive defect in the survival of motor neuron gene, which codes for a protein thought to be involved in RNA metabolism. It states that further work is needed to clarify how this gene defect leads to motor neuron degeneration. A 1985 study of 354 cases of chronic proximal spinal muscular atrophy in children and adolescents concluded that the condition is not as homogeneous as previously thought, and proposed a tentative classification based on sex and age at clinical onset, offering genetic risk estimates from that larger series.
A 2009 review notes that spinal muscular atrophy is one of the most devastating neurological diseases of childhood, with affected infants and children suffering severe muscle weakness from lower motor neuron degeneration. It states that identification of the causative genetic mutation has led to potential treatment strategies, but that clinically feasible outcome measures are needed to test new drugs. The review finds that several assessments are being used by research groups, but their sensitivity to detect change is unknown, and calls for consensus on a few standardised, easily administered, and functionally meaningful outcomes applicable to the full phenotypic spectrum.
No drug is mentioned in any of these abstracts. No survival rates, response rates, or sample sizes for any treatment are given. The 2009 review explicitly states that the sensitivity of existing outcome measures to detect change is unknown, which is a fundamental gap for any future trial. What is still missing is a validated set of clinical outcome measures sensitive enough to detect a therapeutic effect, consensus among research groups on which measures to use, and any trial data testing a specific drug in this patient population.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Current Opinion in Neurology · 1997 · 88 citations
Spinal muscular atrophy
AbstractProximal childhood spinal muscular atrophy is a common autosomal recessive disorder that results in degeneration of lower motor neurons of the spinal cord. The defective gene, survival of motor neuron, encodes a novel protein with a putative role in RNA metabolism. Further work is required to define clearly the mechanism by which the survival of motor neuron gene defect would result in motor neuron degeneration.
Clinical Outcome Measures in Spinal Muscular Atrophy
AbstractSpinal muscular atrophy is one of the most devastating neurological diseases of childhood. Affected infants and children suffer from often severe muscle weakness caused by degeneration of lower motor neurons in the spinal cord and brainstem. Identification of the causative genetic mutation in most cases has resulted in development of potential treatment strategies. To test these new drugs, clinically feasible outcomes are needed. Several different assessments, validated in spinal muscular atrophy or similar disorders, are being used by national and international research groups; however, their sensitivity to detect change is unknown. Acceptance of a few standardized, easily administered, and functionally meaningful outcomes, applicable to the phenotypic spectrum of spinal muscular atrophy, is needed. Consensus is imperative to facilitate collaboration and explore the ability of these measures to identify the therapeutic effect of disease-modifying agents. Following is an evidence-based review of available clinical outcome measures in spinal muscular atrophy.
Journal of Medical Genetics · 1985 · 22 citations · open access
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling.
AbstractResults obtained from a study of 354 cases of chronic proximal spinal muscular atrophy of childhood and adolescence suggest that the condition is not as homogeneous as it was previously thought. A tentative classification based on our results is proposed. Estimates of genetic risks are provided, taking into account the sex and age at clinical onset. In our opinion these factors are more reliable than the data hitherto available because they are based on a considerably larger series.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
