DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital muscular dystrophy — screening already-approved drugs against its 14-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleCongenital muscular dystrophy maps to a 14-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
approvedDantroleneApproved drug
Structures already discussed alongside congenital muscular dystrophy in the retrieved literature, rendered from public PubChem SMILES. Which drugs appear here reflects the evidence found, not a ranked prediction.
Molecular view
The crystal structure of human RyR3 Repeat12 domain — Dantrolene has a real, experimentally solved structure in complex with this target (PDB 9L90, 2.79 Å). This is the drug's own deposited structure, not a prediction, and confirms it is a structurally characterised molecule rather than an untested guess.
Loading structure…
helix sheet u1cdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9L90 · 2.79 Å · ligand Dantrolene (U1C). Experimental structure, not a prediction.
What the evidence adds up to
Congenital muscular dystrophy is one of several muscular dystrophies for which no therapy exists beyond symptom-relieving interventions. A 2018 review states plainly that despite advances in genetics, a greater understanding of molecular mechanisms, and a range of successful preclinical strategies, therapy for patients is currently out of reach. The same review notes that many patients die at a young age. A 2015 pilot study identified and validated a battery of outcome measures in congenital muscular dystrophy over three years, providing insight into disease progression and measures suited for clinical trials, but it did not report any treatment results.
A 2023 chapter on drug repositioning in muscular dystrophies confirms that these conditions have no cure and that effective treatments have yet to be developed, despite knowledge of the genetic origins and pathophysiological alterations. The chapter proposes drug repositioning as a possible answer because it can accelerate development using existing safety and pharmacokinetic data, which is particularly important for patients with life-threatening illnesses who cannot wait for a conventional drug development cycle. However, the chapter is a review of challenges and opportunities, not a report of any repositioned drug that has shown efficacy in congenital muscular dystrophy.
What is still missing is any clinical trial data showing that a repurposed drug improves outcomes in congenital muscular dystrophy specifically. The 2015 pilot study established outcome measures but did not test a drug. The 2023 review identifies drug repositioning as a strategy that has not yet delivered a treatment for this disease. Money for clinical trials, a trial design that can detect meaningful change in a rare and heterogeneous population, and patient stratification by genotype or disease severity are all absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
International Journal of Molecular Sciences · 2018 · 22 citations · open access
At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy—Are We Closer to Effective Treatment for Patients?
AbstractAmong diseases affecting skeletal muscle, muscular dystrophy is one of the most devastating and complex disorders. The term 'muscular dystrophy' refers to a heterogeneous group of genetic diseases associated with a primary muscle defect that leads to progressive muscle wasting and consequent loss of muscle function. Muscular dystrophies are accompanied by numerous clinical complications and abnormalities in other tissues that cause extreme discomfort in everyday life. The fact that muscular dystrophy often takes its toll on babies and small children, and that many patients die at a young age, adds to the cruel character of the disease. Clinicians all over the world are facing the same problem: they have no therapy to offer except for symptom-relieving interventions. Patients, their families, but also clinicians, are in urgent need of an effective cure. Despite advances in genetics, increased understanding of molecular mechanisms underlying muscle disease, despite a sweeping range of successful preclinical strategies and relative progress of their implementation in the clinic, therapy for patients is currently out of reach. Only a greater comprehension of disease mechanisms, new preclinical studies, development of novel technologies, and tight collaboration between scientists and physicians can help improve clinical treatment. Fortunately, inventiveness in research is rapidly extending the limits and setting new standards for treatment design. This review provides a synopsis of muscular dystrophy and considers the steps of preclinical and clinical research that are taking the muscular dystrophy community towards the fundamental goal of combating the traumatic disease.
Childhood Progressive Muscular Dystrophy and the Role of Physical Therapy
AbstractA review of childhood progressive muscular dystrophy–its history, symptomatology, diagnosis, and treatment–is presented. The treatment program of an established muscle disease clinic is outlined and the results of the program are presented. Emphasis is placed on an aggressive program of keeping the child active and functional. The physical therapist is an educator, supervisor, and participant in the delivery of care to the patient.
Türk anesteziyoloji ve reanimasyon derneği dergisi · 2014 · 5 citations · open access
Anaesthetic Management of a Child with Limb-Girdle Muscular Dystrophy
AbstractAn 8-year old male patient, 20 kg in weight was admitted to the hospital. In the assessments performed due to difficulties in walking, running and climbing stairs at 5 years, aspartate aminotransferase (AST), alanine aminotransferase (ALT) and creatine kinase (CK) levels were found to be high. Muscle biopsy revealed deficiencies in alpha and beta sub-units and dystrophin and the patient was diagnosed as having LGMD. CK, AST and ALT levels remained high, although there was improvement in the movements of the patient, who was under steroid treatment for three years. The patient, who was admitted with acute abdominal pain, was taken to surgery for appendectomy by the consent of his parents. The patient was using steroids before the intervention and the preoperative laboratory values were as follows; AST=265 U L -1 , ALT=261 U L -1 , LDH=1178 U L -1 , CK=11361 U L -1 , CK-MB=230.3 U L -1 , leukocyte count=19.94 10 3 uL -1 . Before the patient was transferred to the operating room, the anaesthesia machine was prepared with a disposable patient circuit, and the soda lime was flushed with a fresh gas flow rate of 15 L min -1 . Dantrolene was brought into the operating room. The patient was premedicated with intravenous 1 mg midazolam given from the venous line immediately after he was taken into the operating room, non-invasive blood pressure, electrocardiogram and pulse oximetry monitoring was started and a temperature measurement probe was placed on the skin. Anaesthesia was induced using 3 mg kg -1 propofol, 0.5 g kg -1 sufentanil and 0.6 mg kg -1 rocuronium. After intubation was performed with a 5.5 F endotracheal tube with a cuff, a 22 gauge (diameter) cannula was placed in
American Journal of Occupational Therapy · 2015 · 0 citations
Results From a Three-Year Pilot Study of Clinical Outcome Measures in Congenital Muscular Dystrophy
AbstractDate Presented 4/18/2015 Through our novel prospective cohort study guided by the International Classification of Functioning, Disability and Health ( ICF ) framework, we identified and validated a battery of outcome measures in congenital muscular dystrophy (CMD). We discuss our 3-yr study, and we provide insight into disease progression as well as measures best suited for clinical trials.
IntechOpen eBooks · 2023 · 0 citations · open access
The Potential Benefits of Drug-Repositioning in Muscular Dystrophies
AbstractMuscular dystrophies (MDs) are a complex group of rare neuromuscular disorders caused by genetic mutations that progressively weaken the muscles, resulting in an increasing level of disability. The underlying cause of these conditions consists of mutations in the genes in charge of a person’s muscle composition and functionality. MD has no cure, but medications and therapy can help control symptoms and slow the disease’s progression. Effective treatments have yet to be developed, despite the identification of the genetic origins and a thorough knowledge of the pathophysiological alterations that these illnesses induce. In this scenario, there is an urgent need for novel therapeutic options for these severe illnesses, and drug repositioning might be one feasible answer. In other words, drug repositioning/repurposing is an accelerated method of developing novel pharmaceuticals since the new indication is based on previously accessible safety, pharmacokinetic, and manufacturing data. This is particularly crucial for individuals with life-threatening illnesses such as MDs, who cannot wait for a conventional medication development cycle. This chapter aims to review the challenges and opportunities of drug-repositioning in a variety of MDs to establish novel treatment approaches for these incurable diseases.
Handbook of clinical neurology · 2001 · 0 citations
Towards a Flexible information Retrieval Approach based on the Context
AbstractThe congenital muscular dystrophies are a heterogeneous group of disorders in which weakness and dystrophic pattern on muscle biopsy are present at birth or during the first months of life. This chapter reviews the most common forms of congenital muscular dystrophies, including laminin α-2 (merosin) deficiency, Ullrich congenital muscular dystrophy, fukutin-related proteinopathy, rigid spine syndrome, and glycosylation disorders of α-dystroglycan. The latter group is often associated with neuronal migration defects including lissencephaly, pachygyria, cerebellar and brainstem abnormalities, and variable ocular anomalies. Typical clinical findings and underlying genetic defects are discussed to assist in the differential diagnosis and diagnostic work-up of patients with congenital muscular dystrophies. There are still no curative treatment options for patients with congenital muscular dystrophies but regular follow-up and symptomatic care by a multidisciplinary team considering the peculiarities of each disorder are important to maintain or improve patients' quality of life.
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.
