DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Marshall syndrome — 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 moduleMarshall syndrome 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 marshall syndrome 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.
What the evidence adds up to
Marshall syndrome, also called PFAPA syndrome, is defined by recurrent febrile episodes with angina, adenitis and stomatitis. One 2021 report states the diagnosis is clinical and aided by dramatic resolution of symptoms after oral cortisone. A 2024 case report describes a five-year-old boy diagnosed after genetic screening for familial Mediterranean fever found no mutations in exons two, three, five, and ten of the MEFV gene. During episodes his blood tests showed leukocytosis, increased ESR, and increased C-reactive protein, all returning to normal after the episode. The same report notes that antineutrophil cytoplasmic antibodies to proteinase-3 (cANCA), to myeloperoxidase (pANCA), and antinuclear antibodies (ANA) in a titer of 1/160 were found. Therapy with glucocorticosteroid drugs and immunosuppressants produced a positive effect in that child.
A 2023 case report followed one child from birth to age 12.5 years and is described as the first longitudinal report of Marshall syndrome. The parents wanted to share their early fears at diagnosis and compare them to how well the child turned out. A 2021 report states that medical treatment consists of corticosteroids to resolve acute symptoms, and that adenotonsillectomy or alternative medication can be used long term to prevent recurrence. The same 2021 paper draws attention to montelukast as an alternative option to surgery for preventing recurrence of episodes, based on personal experience and literature.
The 2024 case report emphasises that Marshall syndrome is widely common in children but often undiagnosed due to lack of knowledge about its clinical features, and may be much more common than diagnosed. It states that untimely diagnosis does not result in unfavourable outcome or disability due to the benign clinical course of the disease. The 2021 report on controversial aspects notes the syndrome is frequently encountered in clinical practice in children. The 2024 report concludes that difficulties lie first in verifying the diagnosis, because early symptoms can be similar to monogenic autoinflammatory diseases, leading to unnecessary antimicrobial therapy and deterioration of quality of life for many years.
What is still missing are controlled trials comparing montelukast to placebo or surgery, prospective studies with standardised diagnostic criteria, and any data on long-term outcomes beyond single case reports. No trial funding or patient stratification strategies have been described.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics Part A · 2023 · 0 citations · open access
Growing up with Marshall syndrome: A case report from infancy to age 12.5 years
AbstractMarshall syndrome is an extremely rare genetic disorder usually diagnosed in infancy with a prevalence of <1 in 1 million. Based on the literature reviewed, this is the first case report to provide a longitudinal history of a child with Marshall syndrome (from birth to age 12.5 years). This longitudinal case report arose in part from desires of this child's parents to share the story of their early fears at her initial diagnosis and compare those to how well she has turned out.
Romanian Medical Journal · 2021 · 0 citations · open access
Controversial aspects in the diagnosis and management of Marshall syndrome
AbstractDefined by recurrent febrile episodes af angina, adenitis and stomatitis, Marshall syndrome is frequently encountered in clinical practice in children. The diagnosis is clinical, aided by the dramatic resolution of the symptoms after administration of oral cortisone. The authors report 2 cases of Marshall syndrome and discuss their treatment, based on clinical datas from literature and their own experience in a children emergency department.
Кубанский научный медицинский вестник · 2024 · 0 citations · open access
Marshall syndrome: A case report
AbstractBackground. Marshall syndrome, also known as the PFAPA syndrome, is an autoinflammatory disease characterized by periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. This widely common pediatric autoimmune disease often remains undiagnosed due to a lack of knowledge about its clinical features. Therefore, it can be assumed that Marshall syndrome is much more common than it is diagnosed. We describe a clinical case of Marshall syndrome in a five-year-old boy by retrospectively analyzing the patient’s anamnesis, the course of the disease, the results of laboratory and instrumental studies. The treatment approach is also presented. Despite the complexity of this pathology, a positive result in the treatment of the child was achieved. Clinical case description. A five-year-old boy was admitted to the Cardio-Rheumatology Department of the Krasnodar Krai Children’s Regional Clinical Hospital for examination and clarification of the diagnosis. The patient’s parents complained of recurrent episodes of fever. During such episodes, the child’s blood tests revealed leukocytosis, increased erythrocyte sedimentation rate (ESR), and increased C-reactive protein levels. After the end of the episode, all indicators returned to normal levels. The anamnesis showed that, during the previous three months, the boy had been repeatedly hospitalized with various diseases. The preliminary diagnosis was “Juvenile arthritis, systemic variant. Autoinflammatory disease?”. Laboratory studies revealed antineutrophil cytoplasmic antibodies to proteinase-3 (cANCA), to myeloperoxidase (pANCA), and antinuclear antibodies (ANA) in a titer of 1/160. For differential diagnosis, genetic screening for familial Mediterranean fever was performed; however, no mutations in exons two, three, five, and ten of the MEFV gene were found. As a result, the child was diagnosed with “Autoinflammatory disease. Marshall syndrome.” The prescribed therapy with glucocorticosteroid drugs and immunosuppressants produced a positive effect. After recovery, the boy was discharged from the hospital under the supervision of a pediatrician at the place of residence. Conclusion. Difficulties in the treatment of such patients lie, first of all, in the verification of the diagnosis. Indeed, at early stages, the clinical symptoms of monogenic forms of autoinflammatory diseases and other diseases may be similar to Marshall syndrome. As a result, the patients are subjected to unnecessary massive antimicrobial therapy, resulting in deterioration of their quality of life for many years. Untimely diagnosis does not result in an unfavorable outcome or disability due to the benign clinical course of the disease.
Romanian Journal of Medical Practice · 2021 · 0 citations · open access
New aspects in nonsurgical treatment of Marshall syndrome
AbstractMarshall syndrome, defined by recurrent fever episodes, angina, adenitis and stomatitis, is frequently encountered in childhood. Medical treatment consists of corticosteroids in order to solve the acute symptoms; adenotonsillectomy or alternative medication can be administered on the long term in order to prevent recurrence of symptoms. The authors present a case of Marshall syndrome; based on personal experience and data from literature, the authors draw attention on the efficiency of montelukast in preventing recurrence of episodes, as an alternative option to surgery
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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