DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Neu-Laxova syndrome 1 — 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 moduleNeu-Laxova syndrome 1 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 neu-laxova syndrome 1 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
phosphoglycerate dehydrogenase (PHGDH) — PHGDH 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 1~{r}drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6RJ3 · 1.42 Å · ligand 4-[(1~{R})-1-[(2-methyl-5-phenyl-pyrazol-3-yl)carbonylamino]ethyl]benzoic acid (K58). Experimental structure, not a prediction.
What the evidence adds up to
Neu-Laxova syndrome is a uniformly lethal autosomal recessive condition. Forty-two cases had been reported by 2002, with only four diagnosed prenatally at that time; three of those four were diagnosed at or after 32 weeks' gestation, and the fourth at 22 weeks in a patient with a prior affected child. The earliest reported prenatal diagnosis, at 19 weeks, was made in a primigravida with no family history. By 2018, the condition was described as characterised by central nervous system anomalies, facial dysmorphism, limb and genital anomalies, intrauterine growth retardation, ichthyosis, and other congenital abnormalities; a newborn with these features was presented. In 2023, the fetal phenotype was broadened to include megacystis in the first trimester.
The syndrome is caused by biallelic variants in three genes involved in serine-deficiency disorders: PHGDH, PSAT1, and PSPH. No drug treatment is mentioned in any of these abstracts. No intervention has been reported to alter the uniformly lethal course of the condition.
What is missing is any preclinical or clinical investigation of a therapeutic strategy. There is no trial design, no patient stratification, and no funding directed at drug repurposing for this syndrome. The rarity of the condition and its prenatal lethality mean that even basic natural history data remain sparse, and no candidate drug has been proposed or tested.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Prenatal Diagnosis · 2002 · 22 citations
Early second trimester prenatal diagnosis of Neu‐Laxova syndrome
AbstractNeu-Laxova is a rare, uniformly lethal, autosomal recessive condition with characteristic limb posturing, facial dysmorphic features, and central nervous system abnormalities. Forty-two cases of Neu-Laxova syndrome have been reported, with only four of these diagnosed prenatally. Three of the four cases were diagnosed at or after 32 weeks' gestation. The fourth case was diagnosed at 22 weeks' gestation in a patient who was followed with serial ultrasound studies due to having a prior affected child. At 19 weeks' gestation, we present the earliest reported prenatal diagnosis of Neu-Laxova syndrome in a primigravida with a non-informative family history.
Advanced Biomedical Research · 2018 · 5 citations · open access
A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia
AbstractNeu-Laxova syndrome (NLS) is an autosomal recessive disorder characterized by central nervous system anomalies, facial dysmorphic features, anomalies of limb and genitalia, intrauterine growth retardation, skin disorders, and other congenital abnormalities. In this article, we present a newborn infant who was born with facial dysmorphic features, flat nose, ichthyosis, rocker bottom feet, and fixed flexion contractures. We believe that these clinical findings in this patient are consistent with features of NLS.
Prenatal Diagnosis · 2023 · 3 citations · open access
Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype
AbstractNeu Laxova syndrome (NLS) is a rare and lethal congenital disorder characterized by severe intra-uterine growth retardation (IUGR), ichthyosis, abnormal facial features, limb abnormalities with arthrogryposis and a wide spectrum of severe malformations of the central nervous system (CNS). NLS is due to biallelic variants in three genes previously involved in serine-deficiency disorders (PHGDH, PSAT1 and PSPH), extending the phenotypic spectrum of these disorders.
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.
