DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Houge-Janssens syndrome 2 — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleHouge-Janssens syndrome 2 maps to a 3-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 houge-janssens syndrome 2 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
protein phosphatase 2 scaffold subunit Aalpha (PPP2R1A) — PPP2R1A 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 okadrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2IE4 · 2.6 Å · ligand OKADAIC ACID (OKA). Experimental structure, not a prediction.
What the evidence adds up to
Houge-Janssens syndrome 1 is a rare autosomal dominant disorder with approximately 100 case reports worldwide. A 2025 case report describes a Pakistani toddler presenting with epilepsy and developmental delay; her father and elder sister also had documented developmental delays. Trio whole-genome sequencing and Sanger sequencing identified a heterozygous likely pathogenic variant NM_006245.4: c.626A>C, p.(His209Pro) in the girl, and the same variant was found in her father and sister. The authors note variable phenotypic expression among affected individuals and call for further genotype-phenotype correlation studies.
No abstract in the set addresses Houge-Janssens syndrome 2 specifically. The remaining abstracts cover ROHHAD syndrome, shared decision-making in inflammatory bowel disease, and Ogilvie syndrome with neonatal dysmorphic features. None of these describe any drug tested in Houge-Janssens syndrome 2, nor do they report any treatment outcomes for that condition.
The ROHHAD syndrome case report describes a 2-year-old girl who received intravenous immunoglobulins with limited response, then high-dose cyclophosphamide after low-dose had also been ineffective. The patient developed severe complications including central pontine myelinolysis and failure to wean from ventilation, required a tracheostomy, and died suddenly at home at age five from respiratory pathology. The authors state that immunomodulatory treatment with immunoglobulins, cyclophosphamide, or rituximab has previously resulted in symptom improvement in some ROHHAD cases, but provide no controlled data.
What is missing for Houge-Janssens syndrome 2 specifically: any clinical trial, any drug tested in patients with that diagnosis, any systematic natural history data, and any patient stratification by genotype. The condition is too rare for any single-centre study to yield robust evidence; multi-centre collaboration and funding for prospective registries would be needed before any treatment can be evaluated.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neurología · 2016 · 29 citations · open access
Síndrome ROHHAD (obesidad de rápida progresión, disfunción hipotalámica, hipoventilación y disregulación autonómica). Presentación de un caso y revisión de la literatura
AbstractINTRODUCTION: ROHHAD syndrome (rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation) is a rare and complex disease, presenting in previously healthy children at the age of 2-4 years. Up to 40% of cases are associated with neural crest tumours. DEVELOPMENT: We present the case of a 2-year-old girl with symptoms of rapidly progressing obesity, who a few months later developed hypothalamic dysfunction with severe electrolyte imbalance, behaviour disorder, hypoventilation, and severe autonomic dysregulation, among other symptoms. Although the pathophysiology of this syndrome remains unclear, an autoimmune hypothesis has been proposed for ROHHAD. Therefore, after obtaining a limited response to intravenous immunoglobulins, we decided to test the response to a high dose cyclophosphamide (low dose was not effective either). Unfortunately our patient experienced many severe complications (among them central pontine myelinolysis, from which the patient recovered, and failure to wean from the ventilator requiring tracheostomy and long term ventilation) that required a prolonged ICU stay. Although her behaviour improved, our patient unfortunately died suddenly at home at the age of 5 due to respiratory pathology. CONCLUSIONS: ROHHAD syndrome is a rare and little-known disease which requires a multidisciplinary approach because it involves complex symptoms and multiple organ system involvement. Alveolar hypoventilation should be identified early and appropriate treatment should be started promptly for the best possible outcome. Immunomodulatory treatment with immunoglobulins, cyclophosphamide, or rituximab has previously resulted in symptom improvement in some cases. Because of the low incidence of the syndrome, multi-centre studies must be carried out in order to gather more accurate information about ROHHAD pathophysiology and design an appropriate therapeutic approach.
Advances in Therapy · 2016 · 25 citations · open access
Preferences Regarding Shared Decision-Making in Japanese Inflammatory Bowel Disease Patients
AbstractINTRODUCTION: Recent studies have indicated that patients are showing increased interest in playing a larger role in making decisions regarding their medical treatment. Inflammatory bowel disease (IBD) is a chronic disease that manifests either as Crohn's disease (CD) or ulcerative colitis (UC). IBD treatment is multifaceted and dependent on patient-specific factors. The selection of treatment options is mostly driven by physicians, and it is unclear to what degree patients are involved in shared decision-making (SDM). The objective of the current study is to assess preferences among Japanese patients with IBD in regard to SDM during their treatment for IBD. METHODS: A nationwide web-based survey was performed in Japan during February 2016. The patients were asked for their basic clinical characteristics, socioeconomic status, medical history, treatment details, and preferences regarding SDM in IBD treatment. Differences were analyzed by chi-square, t tests, a multiple regression analysis, and ordered logistic regression analysis. RESULTS: In response to the screening survey, a total of 1068 Japanese nationals met the inclusion criteria for this study of being patients diagnosed with IBD who are currently receiving treatment. Of these, 235 had CD and 800 UC; 33 were not specified. Overall, the majority of these patients felt that SDM was very important. Furthermore, interest in SDM was strongly associated with certain disease comorbidities, surgical history, and current treatment, although there were some differences in the results between CD and UC. CONCLUSION: The present study found that the majority of IBD patients in Japan wanted to have a role in their treatment plan. The results indicate that the patient's preference in regard to SDM was driven by their perception of the severity or progression of their disease. FUNDING: Janssen Pharmaceuticals.
Cirugía y Cirujanos · 2016 · 1 citations · open access
Síndrome dismórfico neonatal y síndrome de Ogilvie
AbstractBACKGROUND: Acute colonic pseudo-obstruction, or Ogilvie syndrome, is a motility abnormality characterised by rapid and progressive dilation of the large intestine. To achieve a diagnosis it is fundamental to exclude mechanical obstruction with imaging studies such as computer axial tomography. The combined incidence of Ogilvie and dysmorphic syndrome has not been described. CLINICAL CASE: Female patient of 28 years old with a history of infant cerebral palsy came to emergency room with 4 days of intestinal obstruction. She had hypokalaemia that was reverted, but persisted with obstruction. Later after 72h with recovery of fluids and electrolytes and administration of prokinetics, the obstruction reversed. She was discharged with no complications. CONCLUSIONS: Non-invasive medical treatment solves most cases. Promising results have been achieved with neostigmine. In the event of no response to drug therapy, the next step is endoscopic treatment. Even with high recurrence this is preferred due to its lower level of complications in contrast to surgical decompression. Neonatal dysmorphic syndrome is often associated with disorders of the central nervous system. So far, there have been no reports on the incidence of this disease with Ogilvie syndrome, although 9% of cases have been described as associated with neurological events. Conservative management in this disease is the initial approach. Interventions should be reserved for when conservative treatment fails.
Pakistan Journal of Neurological Sciences · 2025 · 0 citations · open access
Houge-Janssens syndrome-1 Associated With Protein Phosphatase 2 Regulatory Subunit B′ Delta and Epilepsy: A Case Report
AbstractHouge-Janssens syndrome 1 is a rare autosomal dominant disorder with approximately 100 case reports worldwide. Here, we present a case of a Pakistani toddler who presented with epilepsy and developmental delay. Family history was significant with reported and documented developmental delays in both father and elder sister, with subsequent improvement. Trio-whole-genome sequencing (WGS) and Sanger sequencing were performed, revealing a heterozygous LP variant NM_006245.4: c.626A>C, p.(His209Pro) in the girl. The same variant was also identified in her father and sister. This case sheds light on the variability of phenotypic expression amongst affected individuals and recommends the need for further genotype-phenotype correlation and studies.
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.
