DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Neu-Laxova syndrome 2 — 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 moduleNeu-Laxova syndrome 2 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 neu-laxova 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
phosphoserine aminotransferase 1 (PSAT1) — PSAT1 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 pmpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8A5V · 2.46 Å · ligand 4'-DEOXY-4'-AMINOPYRIDOXAL-5'-PHOSPHATE (PMP). Experimental structure, not a prediction.
What the evidence adds up to
Neu-Laxova syndrome 2 is a lethal congenital disorder with no known prevalence. A 2020 Brazilian case report describes a stillborn infant carrying a novel heterozygous missense variant in the PHGDH gene, inherited from consanguineous parents. The 2018 report presents a newborn with facial dysmorphism, flat nose, ichthyosis, rocker bottom feet, and fixed flexion contractures, and states these findings are consistent with the syndrome. A 2023 report broadens the fetal phenotype to include megacystis detected in the first trimester, and confirms that biallelic variants in PHGDH, PSAT1, or PSPH cause the condition, linking it to serine-deficiency disorders.
No treatment, survival data, or response rates appear in any of these abstracts. All three papers describe individual cases or small series, and none report an intervention or outcome beyond stillbirth or neonatal death. The 2020 and 2023 papers provide molecular confirmation of the genetic basis, but no therapeutic attempt is mentioned.
The abstracts contain no evidence that any drug has been tested or proposed for Neu-Laxova syndrome 2. There is no discussion of drug repurposing, enzyme replacement, serine supplementation, or any other pharmacological strategy. The condition remains uniformly lethal in the reported cases.
What is missing is any clinical trial, any preclinical model testing a candidate therapy, any funding for such work, and any patient stratification beyond the known genetic subtypes. Without these, no drug can be evaluated for this syndrome.
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 · 2020 · 8 citations
Clinical, molecular, and pathological findings in a Neu–Laxova syndrome stillborn: A Brazilian case report
AbstractNeu-Laxova syndrome (NLS) is a lethal genetic multiple congenital anomaly syndrome of unknown prevalence representing the severe spectrum of serine biosynthesis defects associated with PHGDH, PSAT1, or PSP gene mutations. The purpose of this study was to describe clinical/molecular and pathologic features of a NLS case caused by novel heterozygous missense variant in PHGDH gene identified in his consanguineous parents.
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.
