DeCure for Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease — screening already-approved drugs against its 5-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleCentral hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease maps to a 5-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 central hypoventilation syndrome, congenital, 1, with or without hirschsprung disease 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
progesterone receptor (PGR) — PGR 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 14beta,17alphadrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 1SQN · 1.451 Å · ligand (14beta,17alpha)-17-ethynyl-17-hydroxyestr-4-en-3-one (NDR). Experimental structure, not a prediction.
What the evidence adds up to
A 2008 case report describes a 15-month-old male with late onset congenital central hypoventilation syndrome and recto-sigmoid Hirschsprung disease, an association not previously reported. The patient carried a missense mutation in the PHOX2B gene, p.A140E, already known in isolated late onset central hypoventilation. The authors suggest this refines the mutational spectrum and calls for individualised ventilatory care with specific surgical and oncological approaches. No drug is mentioned.
A 2011 report of a Korean newborn male with recurrent hypoventilation, hypercapnea, and bowel obstruction confirms the diagnosis of congenital central hypoventilation syndrome with Hirschsprung disease, termed Haddad syndrome. Polyalanine 26 repeats in the PHOX2B gene supported the diagnosis. This is the first Korean case described; no drug is discussed.
A 2015 case of an adult non-obese man with idiopathic central hypoventilation syndrome and chronic type 2 respiratory failure is reported, without Hirschsprung disease or neural crest tumours. No drug is mentioned in any of these three abstracts. No treatment, response rates, or survival data are provided. What remains missing is any clinical trial, any drug intervention, any systematic patient stratification, and any funding for therapeutic development in this rare disorder.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Pediatric Pulmonology · 2008 · 16 citations
A novel missense mutation in the <i>PHOX2B</i>gene is associated with late onset central hypoventilation syndrome
AbstractWe report the case of a 15-month-old male suffering from Late Onset Congenital Central Hypoventilation Syndrome and recto-sigmoid Hirschsprung's disease, an association that has not been reported thus far. Nevertheless, our patient showed a missense mutation of the PHOX2B gene already known in isolated late onset central hypoventilation, resulting in a substitution of the Ala140 residue with a Glu residue (p.A140E). The present association of LO-CHS and HSCR in a patient harboring a rare and atypical PHOX2B mutation allows to refine the mutational spectrum of this disease and suggests individualized ventilatory care along with specific surgical and oncological approaches.
Journal of Korean Medical Science · 2011 · 7 citations · open access
Haddad Syndrome with<i>PHOX2B</i>Gene Mutation in a Korean Infant
AbstractCongenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. We report a newborn male infant with clinical manifestations of recurrent hypoventilation with hypercapnea and bowel obstruction. These clinical manifestations were compatible with congenital central hypoventilation syndrome and Hirschsprung's disease, and polyalanine 26 repeats in the PHOX2B gene supported the diagnosis of congenital central hypoventilation. We described a first case of Haddad syndrome in Korean and its clinical and genetic characteristics were discussed.
Indian Journal of Sleep Medicine · 2015 · 0 citations · open access
A rare case of idiopathic central hypoventilation syndrome
AbstractCentral hypoventilation syndrome has been reported in children as a rare congenital disorder with associated Hirschsprung disease and several neural crest tumors. In adults, hypoventilation syndromes are usually associated with obesity, chest wall and neuromuscular disorders, and lower airways obstruction. We report a rare case of idiopathic central hypoventilation syndrome in an adult, nonobese man without any comorbidity who presented to us with chronic type 2 respiratory failure.
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.
