DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for myasthenic syndrome, congenital, 22 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleMyasthenic syndrome, congenital, 22 maps to a 2-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 myasthenic syndrome, congenital, 22 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
solute carrier family 3 member 1 (SLC3A1) — SLC3A1 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 argdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6LI9 · 2.3 Å · ligand ARGININE (ARG). Experimental structure, not a prediction.
What the evidence adds up to
Two male infants with neonatal myasthenia gravis are described in a 1970 report. Among 82 collected patients, incidence was 12% of babies born to myasthenic mothers. Onset was within 72 hours of birth, mean duration was 18 days, maximum 47 days. Nine patients died, mean duration 6 days, maximum 21 days. The remaining recovered without recurrence except one recurrence at two years. Manifestations included feeding difficulty (87%), generalised weakness (69%), respiratory difficulty (65%), feeble cry (60%), and facial weakness (54%) including ptosis (15%). Pharmacologic tests with neostigmine or edrophonium were positive in 86%. Management consisted of anticholinesterase medication in 81% for a mean of 21 days and general care, particularly respiratory care. No relation of neonatal myasthenia to striation binding or antinuclear globulin was found.
A 2017 case report from Togo describes a 44-year-old man with myasthenia and antisynthetase antibody syndrome, noting that outcome is very bad in developing countries with inadequate technical platforms. A 2012 report describes a 22-month-old girl with myasthenia gravis and impressive improvement due to early adequate therapy; it notes that in infants below one year prevalence is approximately 1.1 per million, and if antibodies are missing congenital myasthenic syndrome must be considered.
Two 2015 cases of congenital myasthenic syndrome with vocal cord paralysis are reported, with vocal cord paralysis as a major sign. A 2022 review states that congenital myasthenic syndrome is a group of partially treatable genetic disorders with more than thirty pathogenic genes discovered, and that misdiagnosis and missed diagnosis are common. A 2024 study from Algiers reports six patients with different mutations and different pathophysiologic profiles (slow or fast channel syndromes, low expressor of receptor) treated with innovative drugs normally indicated in non-neurological pathologies, with outcome toward clear clinical improvement; this provides Class IV evidence that some innovative treatments are effective.
What is still missing: larger prospective trials with adequate controls, reliable biomarkers to stratify patients by genetic subtype, and funding for trials in developing countries where diagnostic platforms are inadequate and outcomes remain poor.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
PEDIATRICS · 1970 · 177 citations
NEONATAL MYASTHENIA GRAVIS: REPORT OF TWO CASES AND REVIEW OF THE LITERATURE
AbstractTwo male infants with neonatal myasthenia gravis are described. The serum of one patient and his myasthenic mother had no neuromuscular blocking activity or antinuclear globulin. Striation binding globulin was positive in the serum of the mother, but not the infant. Eighty two collected patients are reviewed. Incidence was 12% of babies born to myasthenic mothers. Onset was within 72 hours of birth. Mean duration was 18 days and maximum was 47 days. Nine patients died, with a mean duration of 6 days and a maximum of 21 days. The remaining patients recovered without recurrence, except for recurrence at 2 years in one patient. Manifestations were feeding difficulty (87%), generalized weakness (69%), respiratory difficulty (65%), feeble cry (60%), and facial weakness (54%), including ptosis (15%). Pharmacologic tests with neostigmine or edrophonium were positive in 86%. Management consisted of anticholinesterase medication in 81% for a mean of 21 days and general care, particularly respiratory care. The mothers all had generalized myasthenia gravis. Four mothers did not receive anticholinesterase medication and nine had undergone thymectomy. Eleven mothers subsequently had a second affected child, and five mothers had a normal child. There was no relation of neonatal myasthenia to striation binding or antinuclear globulin in serum of mother or infant.
Two cases of congenital myasthenic syndrome with vocal cord paralysis
AbstractCongenital myasthenic syndrome (CMS) typically presents within the first year of life with fluctuating and fatigable muscle weakness, often affecting ocular and bulbar muscles.1 In spite of bulbar involvement, vocal cord paralysis (VCP) is an uncommon presentation of CMS,2 and is most often seen in peripheral neuropathies such as TRPV4 mutations.3 We report 2 cases of CMS with 2 novel mutations in which VCP was a major sign.
Neurology Clinical Practice · 2024 · 0 citations · open access
Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes
AbstractBackground and Objectives: To provide real-word clinical follow-up data on patients carrying variations of congenital myasthenic syndromes (CMS) and who respond to some innovative drugs. Methods: Patients recruited from the Neurology Department of the Mustapha Bacha university hospital in Algiers. Treated with innovative drugs, they were monitored and their clinical progress was evaluated on the basis of clinical arguments suggestive of CMSs, but also para clinical arguments (electromyography and genetic study). Results: Six patients carrying different mutations in different genes of CMSs were studied. They had different pathophysiologic profiles (slow or fast channel syndromes, low expressor of receptor). Their therapeutic management was based on innovative drugs, normally indicated in other, non-neurological pathologies. Their outcome was toward a clear clinical improvement. Discussion: This work relates the interest of proposing treatments (outside of Pyridostigmine) in the management of CMSs. These therapies can greatly modify the prognosis of patients suffering from this orphan disease. Classification of Evidence: This study provides Class IV evidence that for patients with congenital myasthenic syndromes, some innovative treatments are effective.
DOAJ (DOAJ: Directory of Open Access Journals) · 2022 · 0 citations
Congenital Myasthenic Syndrome
AbstractCongenital Myasthenic syndrome (CMS) is a group of partially treatable genetic disorders characterized by dysfunction of neuromuscular junction signaling.With the popularization of high-throughput sequencing and in-depth understanding of the disease in recent years, more than thirty pathogenic genes have been discovered and there is a correlation between genotype and clinical phenotype.Misdiagnosis and missed diagnosis are common in clinical practice. This paper summarized the molecular mechanisms, clinical features, electrophysiologic, pathological features and treatment of main subtypes of CMS to deepen the understanding of the disease.
Greater South Information System · 2017 · 0 citations · open access
Myasthenia and antisynthetase antibody syndrome: a case report in Togo
AbstractMyasthenia is a rare neurological condition with risk of death in case of inappropriate management.The outcome of this pathology is very bad in developing countries with inadequate technical Platform.We underlined the main difficulties of diagnostic and the management of Myasthenie and antisynthetase antibody syndrome in a 44 years-old Togolese man.
Myasthenia gravis in an 22 months-old girl - impressing improvement due to early adaequate therapy
AbstractAims: Infantile Myasthenia gravis (MG) is a rare autoimmune disease, antibodies against the nicotinic acetylcholine receptor (AChR) can be found in 50% off all cases. Others as antibodies to muscle-specific kinase (MuSK) are less frequent. The prevalence of MG in infants below 1 year of age is approximately 1.1/106. If antibodies are missing, a congenital myasthenic syndrome (CMS) has to be taken into account. Therapeutical options are the treatment with acetylcholinesterase inhibitors and often also immunosuppression. Depending on clinical severity a plasmapheresis or intravenous immunoglobulin could be indicated. A thymectomy could increase the probability of remission.
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.
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