DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Peters plus syndrome — 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 modulePeters plus syndrome 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 peters plus syndrome 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
fibroblast growth factor 8 (FGF8) — FGF8 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2FDB · 2.28 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
In a screening of 64 patients with Peters plus syndrome, isolated Peters anomaly, or PPS-like phenotypes, mutations in the coding region of B3GALTL were found in only nine patients. Six of those nine had classic Peters plus syndrome; the other three had a clinical diagnosis of PPS but incomplete documentation. No B3GALTL mutations were found in 55 cases of PPS-like phenotypes or isolated Peters anomaly. The c.660+1G>A mutation accounted for 55% of pathogenic alleles in that study and 69% of all reported pathogenic alleles. Five novel alleles were identified: one frameshift (c.168dupA), one nonsense (c.1234C>T), two missense (c.1045G>A and c.1181G>A), and one splicing (c.347+5G>T).
A 2020 report described a one-month-old female with typical Peters plus features and a homozygous pathogenic mutation in the B3GLCT gene. A 2017 report described a 12-year-old boy with Peters plus syndrome who also had absence epilepsy and recurrent bacterial infections. A 2023 case report described a 3-year-old male with bilateral corneal opacity, left eye buphthalmos, and phenotypic Down syndrome.
Among 282 patients with Peters anomaly, 4 (1.4%) had associated lacrimal drainage system anomalies. Among 16 children with Peters plus syndrome, 3 (18.75%) had such anomalies. A total of 12 lacrimal drainage systems in 12 eyes of 7 patients were involved. Upper or lower punctal agenesis occurred in 3 eyes. Three eyes had complex congenital nasolacrimal duct obstruction, two with a bony NLD block and one with a misdirected duct through the inferior turbinate. One eye had diffuse NLD stenosis. After treatment, at a mean follow-up of 25.7 months, 10 of 11 eyes (91%) achieved anatomical and functional success.
What is still missing is any drug therapy for the underlying disorder. No abstract describes a treatment trial, a repurposed drug, or an intervention that alters the course of the syndrome itself. The literature remains confined to case reports, genetic characterisation, and surgical management of ocular complications. There is no evidence of funding for a drug trial, no proposed patient stratification beyond clinical phenotype, and no trial design that tests a molecular therapy.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Clinical Genetics · 2013 · 48 citations · open access
Novel <i><scp>B3GALTL</scp></i> mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
AbstractPeters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities. In this report, we describe screening of 64 patients affected with PPS, isolated Peters anomaly and PPS-like phenotypes. Mutations in the coding region of B3GALTL were identified in nine patients; six had a documented phenotype of classic PPS and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation. A total of nine different pathogenic alleles were identified. Five alleles are novel including one frameshift, c.168dupA, p.(Gly57Argfs*11), one nonsense, c.1234C>T, p.(Arg412*), two missense, c.1045G>A, p.(Asp349Asn) and c.1181G>A, p.(Gly394Glu), and one splicing, c.347+5G>T, mutations. Consistent with previous reports, the c.660+1G>A mutation was the most common mutation identified, seen in eight of the nine patients and accounting for 55% of pathogenic alleles in this study and 69% of all reported pathogenic alleles; while two patients were homozygous for this mutation, the majority had a second rare pathogenic allele. We also report the absence of B3GALTL mutations in 55 cases of PPS-like phenotypes or isolated Peters anomaly, further establishing the strong association of B3GALTL mutations with classic PPS only.
The Turkish Journal of Pediatrics · 2020 · 13 citations · open access
Peters Plus syndrome: a recognizable clinical entity
AbstractPeters plus syndrome is a rare genetic condition wherein multiple systemic involvement with distinctive facial features are manifested, whilst the hallmark is Peters anomaly, occuring from anterior segment dysgenesis. Homozygous variants in the B3GLCT gene were identified to underlie this disorder. We here report on a onemonth- old female patient with typical features characteristic of Peters plus syndrome in whom a homozygous pathogenic mutation in the B3GLCT gene was detected.
BMC Ophthalmology · 2020 · 6 citations · open access
Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report
AbstractBACKGROUND: Peters plus syndrome (PPS) is a combination of congenital Peters anomaly and systemic abnormalities. It is inherited most commonly in an autosomal recessive pattern with homozygous B3GLCT mutations. Ocular findings consist predominantly anterior segment abnormalities without posterior segment involvement. CASE PRESENTATION: In this presentation, we report a case of PPS with homozygous pathogenic variant in B3GLCT who presented with classic anterior segment findings, systemic abnormalities, as well as atypical bilateral chorioretinal atrophy. The chorioretinal findings were characterized with spectral-domain optical coherence tomography. CONCLUSIONS: Our report expands the phenotypic descriptions of PPS by characterizing posterior segment findings.
Lacrimal drainage system involvement in Peters anomaly: clinical features and outcomes
AbstractPURPOSE: To present first of its kind series on the clinical features and outcomes of lacrimal drainage disorders in Peters anomaly and Peters plus syndrome. METHODS: A retrospective chart review was performed of all consecutive patients who were known cases of Peters anomaly or Peters plus anomaly and were diagnosed with associated congenital lacrimal drainage disorders. The study period was from June 2016 to Dec 2020. All these patients underwent examination under anaesthesia for a detailed assessment of lacrimal drainage anomalies. Where indicated, they were treated with probing, intubation, or in refractory patients with a dacryocystorhinostomy. The anatomical and functional outcomes were assessed. RESULTS: Of the 282 patients with Peters anomaly, 4 (1.4%) patients had associated lacrimal drainage system anomalies while of the 16 Peters plus anomaly children, 3 (18.75%) had associated lacrimal drainage system anomalies. A total of 12 lacrimal drainage systems of 12 eyes of 7 patients of Peters anomaly were found to be involved. Upper or lower punctal agenesis were noted in 3 eyes. Three eyes had complex congenital nasolacrimal duct obstruction (CNLDO), two of which had a bony NLD block and one had a misdirected nasolacrimal duct through the inferior turbinate. One eye had a diffuse NLD stenosis without a CNLDO. Following appropriate management, at a mean follow-up of 25.7 months (range: 3-48 months), all the eyes except one (91%, 10/11) demonstrated anatomical and functional success. CONCLUSION: Lacrimal drainage involvement was more common in Peters plus syndrome. Multiple proximal and distal lacrimal drainage segment anomalies were noted in all the variants of Peters anomaly; however, Peters plus syndrome was noted to usually involve both the segments.
Journal of Genetic Syndromes & Gene Therapy · 2017 · 2 citations · open access
Peters Plus Syndrome: Another Way to See a Known Syndrome
AbstractPeters Plus Syndrome is a rare autosomic recessive disorder, clinically characterized by abnormal formation of various structures including anterior eye chamber, genitourinary tract, skeletal system and central nervous system. PPS is due to defective B3GALTL gene encoding for a glycosyl-transferase that plays a crucial role during embryogenesis. Here we report on a 12-year old boy affected by Peters Plus syndrome who showed peculiar additional features such as absence epilepsy and recurrent bacterial infections.
International Journal of Science and Research (IJSR) · 2023 · 0 citations · open access
Comprehensive Case Analysis: Peters - Plus Syndrome in a 3 - Year - Old Male with Phenotypic Down?s Syndrome
AbstractPeters plus syndrome is an autosomal recessive disorder characterized by anterior segment dysgenesis with systemic manifestations.A case report of a 3 year old male child presented with Peters plus syndrome having bilateral corneal opacity, left eye buphthalmos and phenotypic downs syndrome.Written informed consent was obtained from Patient's parents to publish the report.
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.
