DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital diarrhea 6 — 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 moduleCongenital diarrhea 6 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 congenital diarrhea 6 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
guanylate cyclase 2C (GUCY2C) — GUCY2C 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 atpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8FX4 · 3.9 Å · ligand ADENOSINE-5'-TRIPHOSPHATE (ATP). Experimental structure, not a prediction.
What the evidence adds up to
Congenital diarrhoeal disorders are a group of inherited enteropathies that typically present early in life, often requiring parenteral nutrition due to chronic diarrhoea of sufficient severity. For most of these disorders the disease-gene is known, and molecular analysis can contribute to an unequivocal diagnosis. In a retrospective nationwide study of 5801 neonates in intensive care units over three years, 39 cases of diarrhoea were identified, an occurrence rate of 6.72 per 1000 hospitalised newborns. Among these, three cases were chronic, and the aetiology was defined in 29 of 39 (74.3%). Congenital defects of ion transport accounted for 5.1% of cases. Three patients died due to complications related to diarrhoea (7.7%).
Congenital microvillous atrophy is the leading cause of neonatal secretory diarrhoea, with onset either in the first 72 hours of life or at 6–8 weeks after birth. Over 30 cases had been reported worldwide by 2004. The prognosis continues to be poor. Therapeutic agents such as somatostatin and epidermal growth factor are either ineffective or of marginal benefit. Overall five-year survival after small bowel transplantation is currently approximately 50%. More recent reviews note that many affected infants present with catastrophic dehydration in the first few days of life, although the clinical phenotype is variable. Advances in genetic testing and intravenous nutrition support have allowed affected patients to survive well beyond childhood.
The appropriate choice of nutritional therapy for infants with diarrhoea has long provoked debate. Continued feeding during the active and early convalescent phases has been recommended to prevent negative effects on growth, although until recently this approach was little used. In the neonatal intensive care unit study, rehydration was performed exclusively by the enteral route in 19 of 39 patients (48.7%). Specific guidelines for managing diarrhoea in neonates are advocated due to the heterogeneous aetiologies and severe outcomes.
What is still missing are targeted therapies for the specific genetic defects that cause congenital diarrhoeas and enteropathies, as current management relies on prolonged or indefinite parenteral nutrition. Further research is needed to identify new subtypes of these disorders and to develop new targeted therapies and potentially a long-term cure, but no such therapies are described in the available literature. The evidence base remains limited to small case series and retrospective studies, with no randomised trials of any drug treatment for congenital diarrhoea 6 specifically.
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 · 2012 · 74 citations · open access
Congenital Diarrheal Disorders: An Updated Diagnostic Approach
AbstractCongenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.
World Journal of Gastroenterology · 2010 · 59 citations · open access
Diarrhea in neonatal intensive care unit
AbstractAIM: To investigate the frequency, etiology, and current management strategies for diarrhea in newborn. METHODS: Retrospective, nationwide study involving 5801 subjects observed in neonatal intensive care units during 3 years. The main anamnesis and demographic characteristics, etiology and characteristics of diarrhea, nutritional and therapeutic management, clinical outcomes were evaluated. RESULTS: Thirty-nine cases of diarrhea (36 acute, 3 chronic) were identified. The occurrence rate of diarrhea was 6.72 per 1000 hospitalized newborn. Etiology was defined in 29 of 39 newborn (74.3%): food allergy (20.5%), gastrointestinal infections (17.9%), antibiotic-associated diarrhea (12.8%), congenital defects of ion transport (5.1%), withdrawal syndrome (5.1%), Hirschsprung's disease (2.5%), parenteral diarrhea (2.5%), cystic fibrosis (2.5%), and metabolic disorders (2.5%). Three patients died due to complications related to diarrhea (7.7%). In 19 of 39 patients (48.7%), rehydration was performed exclusively by the enteral route. CONCLUSION: Diarrhea in neonates is a challenging clinical condition due to the possible heterogeneous etiologies and severe outcomes. Specific guidelines are advocated in order to optimize management of diarrhea in this particular setting.
American Journal of Perinatology · 1992 · 15 citations
Prenatal Presentation of Congenital Chloride Diarrhea: Clinical Report and Review of the Literature
AbstractA case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed.
AbstractThe appropriate choice of treatment for infants with diarrhea has long provoked debate. Growth of infants with diarrhea is adversely affected by associated diseases including anorexia, malabsorption, catabolic response to infection, and iatrogenic starvation. To prevent the negative effects of diarrhea on the nutrition of infants, continued feeding during the active and early convalescent phases has been recommended. Although this concept is not new, until recently it has been little used in the treatment of diarrhea. In this article we examine the current knowledge about, and trends in, feeding infants with diarrhea. We will discuss treatments for the well-nourished infant with acute diarrhea, the infant with prolonged diarrhea, and the malnourished infant. Information regarding the use of local staples will also be provided.
Postgraduate Medical Journal · 2004 · 13 citations · open access
Neonatal congenital microvillus atrophy
AbstractCongenital microvillous atrophy (CMVA) is the leading cause of neonatal secretory diarrhoea with onset either in the first 72 hours of life (early onset) or at 6-8 weeks after birth (late onset). To date over 30 cases have been reported worldwide. The prognosis for this life threatening condition continues to be poor. Therapeutic agents like somatostatin and epidermal growth factor are either ineffective or of marginal benefit. Overall five year survival after small bowel transplantation is currently approximately 50%. The following brief review is aimed towards helping neonatologists/perinatologists in the early diagnosis, and management of CMVA and in counselling the parents appropriately.
Journal of Clinical Case Reports · 2013 · 10 citations
Skin Metastasis of Cervical Cancer: About an Unusual Case
AbstractCongenital Chloride Diarrhoea (CCD) is a form of autosomal recessive disorder which is presented by persistent chloride rich watery diarrhea from birth. Diagnosis of CCD is simple but it needs early prediction and clinical and laboratory evaluation. It can be tentatively made from the typical history of polyhydramnios in antenatal period, prematurity, and watery diarrhea from the beginning and then confirmed by the high fecal concentration of Cl-. Serum electrolyte and pH changes are not reliable diagnostic criteria. Without early intervention most of the children will die in infancy, rest will achieve failure to thrive, and psychomotor developmental delay. .Although congenital chloride diarrhoea has been reported worldwide, but in Bangladesh, we have no reported cases. Here we have discussed two cases of CCD with their diagnostic and management outcome and also discuses about captopril and its effectiveness. Early diagnosis and treatment are essential for normal growth, development, and prevention of other severe complications of congenital chloride diarrhea.
AbstractCongenital diarrhoeas and enteropathies (CODE) are a heterogeneous group of disorders. Many affected infants present with catastrophic dehydration in the first few days of life, although the clinical phenotype is variable. Advances in the understanding of underlying pathomechanisms and genetic testing, as well as improved management, in particular intravenous nutrition support, have allowed affected patients to survive well beyond childhood. Awareness and understanding of these rare diseases are hence needed, both amongst paediatricians and adult physicians. In this review, we discuss the different groups of disorders based on a review of the current literature and provide a diagnostic and therapeutic approach. Many of the subtypes of CODE result in the need for prolonged or indefinite parenteral nutrition. Further research is needed to identify new CODE to improve the recognition and management of these children, which can assist in developing new targeted therapies and potentially a long-term cure.
[A Case of Congenital Tufting Enteropathy with <i>EpCAM</i> Gene Complex Heterozygous Mutation (c.491+1G>A; c.352_353ins CACC)].
Abstractdays and vomiting for 4 days". On the 8th day after birth, the patient began to develop recurrent refractory diarrhea, accompanied by abdominal distension, vomiting, dehydration, acidosis, and malnutrition. There were many cases of malignant tumors of the digestive system in the patient's family. Genetic testing identified compound heterozygous mutations (c.491+1G>A; c.352_353ins CACC) in epithelial cell adhesion molecule (EpCAM) gene and the patient was hence diagnosed with congenital tufting enteropathy. The patient was given partial parenteral nutrition support. The patient's diarrheal symptom was improved, but it was difficult to increase the amount of formula because any increase in the amount of formula for the patient would inevitably result in abdominal distention and vomiting. The patient experienced repeated fever in the later period of hospitalization and was eventually discharged from the hospital with the family's signed consent. He still had diarrhea and vomiting after leaving the hospital. Four weeks after discharge, the patient lost about 1 kg of weight and eventually died.
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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