Rare & Orphan Lab · DeCure for X

DeCure for Primary congenital glaucoma

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for primary congenital glaucoma — 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.

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The disease map

Disease modulePrimary congenital glaucoma 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 primary congenital glaucoma 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

cytochrome P450 family 1 subfamily B member 1 (CYP1B1)CYP1B1 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 hemdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 3PM0 · 2.7 Å · ligand PROTOPORPHYRIN IX CONTAINING FE (HEM). Experimental structure, not a prediction.

What the evidence adds up to

Primary congenital glaucoma is diagnosed and treated in infancy and early childhood, with surgical intervention considered the definitive treatment. Medical management is described only as a temporising measure. A 2022 prospective study at Tanta University Eye Hospital in Egypt included 60 eyes of 36 infants and children, mean age at first presentation 11.33 months (range 0.5–120 months), mean follow-up 7.85 months (range 4–13 months). Pre-operative mean intraocular pressure (IOP) was 24.1 mmHg (range 12–41.5), corneal diameter 12.97 mm, cup-to-disc ratio 0.57, and axial length 21.87 mm. Post-operatively, mean IOP fell to 14.4 mmHg (range 8.5–20.5), corneal diameter to 12.71 mm, cup-to-disc ratio to 0.48, and axial length increased to 22.16 mm. Primary surgeries were trabeculotomy in 21 eyes and combined trabeculotomy-trabeculectomy with mitomycin C (CTT with MMC) in 39 eyes; four eyes required secondary CTT with MMC, and one eye required a third surgery with Ahmed valve implantation. Complete success was achieved in 38 eyes (63.3%) and qualified success in 22 eyes (36.7%). The authors concluded that the protocol was effective and safe, recommending trabeculotomy for mild cases and CTT with MMC for moderate to advanced cases.

A 2014 review of paediatric glaucoma treatment states that surgical results with current techniques are "less than outstanding" and are associated with a significant number of complications, re-operations, and late failure. It notes that medications used for adult glaucoma are available for children but that risk profiles in children might be more severe than in adults. A 2013 paper frames the surgical management of primary congenital glaucoma as a set of four ongoing debates, with no single consensus approach. A 2024 review of childhood glaucoma summarises progress in definition, classification, molecular genetics, pathogenesis, and comprehensive treatments including drugs and surgery, but does not report new trial data or survival rates. Another 2024 paper states that diagnosis in infants and children is performed under general anaesthesia, treatment is mainly surgical, and children require constant, systematic ophthalmic care and genetic counselling.

No drug is mentioned in any abstract as a disease-modifying treatment for primary congenital glaucoma; medications are described only as temporising or as adult glaucoma drugs used off-label with potentially more severe paediatric risk. What remains missing is a randomised controlled trial comparing surgical techniques head-to-head with long-term follow-up beyond 13 months, standardised patient stratification by disease severity and age, and funding for prospective multicentre studies that can address the high rates of re-operation and late failure noted in the 2014 review.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Journal of Ophthalmology · 2013 · 34 citations · open access

Surgical Management in Primary Congenital Glaucoma: Four Debates

AbstractPrimary congenital glaucoma is a worldwide diagnostic and therapeutic challenge. Although medical management is often a temporizing measure, early surgical intervention is the definitive treatment. As the abundance of surgical treatment options continues to expand, the authors will compare and contrast the available options and attempt to provide a consensus on surgical management.

https://doi.org/10.1155/2013/612708
Neuro-Ophthalmology · 2013 · 4 citations · open access

Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect

AbstractWe present an update on the ophthalmic status of a female patient with biotinidase deficiency who has attended our clinic for over 30 years. She is the only reported case of juvenile-onset glaucoma associated with biotinidase deficiency. Her intraocular pressure, optic nerve appearance, and visual field defect have, however, remained stable throughout her follow-up. We feel that this patient's visual field defect is a result of optic atrophy due to biotinidase deficiency in early life rather than glaucomatous damage.

https://doi.org/10.3109/01658107.2013.824004
PubMed · 2024 · 1 citations

[Research progress in the diagnosis and treatment of childhood glaucoma].

AbstractChildhood glaucoma is a disease that seriously endangers children's visual health. It will accompany the patients throughout their lives and bring a heavy burden to families and society. Most childhood blindness caused by glaucoma is preventable or treatable. Relevant research has made progress in recent years. Based on the new consensus reached by the World Glaucoma Association and the latest medical evidence at home and abroad, this article summarizes the definition, classification, diagnosis, molecular genetics, pathogenesis and comprehensive treatments including drugs and surgery of childhood glaucoma, with a focus on the application of various surgical methods, so as to provide reference for clinical and scientific research and improve the clinical diagnosis and treatment of childhood glaucoma.

https://doi.org/10.3760/cma.j.cn112142-20231202-00266
Ophthalmology Research An International Journal · 2022 · 0 citations · open access

Evaluation of a Protocol for Diagnosis and Treatment of Primary Congenital Glaucoma in Tanta University Eye Hospital

AbstractBackground: Primary congenital glaucoma is the most common type of glaucoma in infancy. It manifests within the first few years of life and is not associated with any other systemic or ocular abnormalities. This study aimed to evaluate a protocol for diagnosis and treatment of primary congenital glaucoma at Tanta University Eye Hospital.
 Methods: The study was prospective interventional on 60 eyes of 36 infants and children who presented between December 2018 to March 2021 at Tanta University Eye Hospital in Egypt. All patients were presented with primary congenital glaucoma and were managed according to specific diagnostic, therapeutic and follow up regimen. Pre- and Post-operative clinical data were recorded, and results were studied.
 Results: The mean of age±SD (range) at first presentation was 11.33±21.76 (0.5-120) months and of follow-up period was 7.85±2.71 (4-13) months. The mean of pre-operative IOP, corneal diameter, C/D ratio and AxL was 24.1±5.9 (12–41.5) mmHg, 12.97±0.69 (11–14.5) mm, 0.57±0.18 (0.2–0.9) and 21.87±1.28 (19.1–26.8) mm respectively, and post-operatively was 14.4±3.09 (8.5–20.5) mmHg, 12.71±0.89 (11–14.5) mm, 0.48±0.22 (0.2–1) and 22.16±1.53 (19–25.9) mm respectively. Surgical interventions included 1ry surgeries (trabeculotomy in 21 eyes and CTT with MMC in 39 eyes), 2ry surgeries (CTT with MMC in four eyes) and 3ry surgery (Ahmed valve implantation in one eye). Complete success was achieved in 38 eyes (63.3%) and qualified success in 22 eyes (36.7%).
 Conclusions: The current protocol applied at Tanta University Eye Hospital for diagnosis and treatment of primary congenital glaucoma proved efficacy and safety. Primary surgical intervention in the form of trabeculotomy (for mild cases) and combined trabeculotomy-trabeculectomy with MMC (for moderate to advanced cases) is a successful regimen for management of these eyes.

https://doi.org/10.9734/or/2022/v17i4373
Ophthalmology · 2024 · 0 citations · open access

Primary Congenital Glaucoma in Children – Diagnosis and Procedure

AbstractThe paper presents problems related to congenital childhood glaucoma. The aetiology of the disease, symptoms and clinical picture are discussed. Diagnosis of congenital glaucoma in infants and children is performed under general anesthesia. Treatment of primary congenital glaucoma is mainly surgical. Children with congenital glaucoma require constant, systematic ophthalmic care and genetic counseling.

https://doi.org/10.5114/oku/178068
Int Rev Ophthalmol · 2014 · 0 citations

Progress on treatment of pediatric glaucoma

AbstractPediatric glaucoma is a broad term referring to a variety of glaucomas comprising a heterogeneous group of ocular diseases and may occur among individuals from birth to 18 years of age.The paediatric glaucoma presents some of the greatest clinical challenges and can be potentially blinding.At present,medications for adult glaucoma are available to treat pediatric glaucoma,but the risk profiles in children might be more severe than in adults.Surgical results with current techniques are less than outstanding,and are associated with a significant number of complications,re-operations,and late failure.This review summarizes current concepts regarding terminology,classification,epidemiology,medical and surgical treatment,and recent advances with an emphasis on the primary congenital glaucoma,glaucoma following congenital cataract surgery,and glaucoma associated with Sturge-weber syndrome. Key words: glaucoma, pediatric/therapy ;  medicine ;  surgery

https://doi.org/10.3760/cma.j.issn.1673-5803.2014.04.002

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.