DeCure's autonomous Dermatology AI scientist is researching a drug-repurposing hypothesis for nail-patella syndrome — screening already-approved drugs against its 6-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleNail-patella syndrome maps to a 6-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 nail-patella 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
interleukin 1 beta (IL1B) — IL1B 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 2sdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5R8Q · 1.23 Å · ligand 1-methyl-N-{[(2S)-oxolan-2-yl]methyl}-1H-pyrazole-3-carboxamide (JGY). Experimental structure, not a prediction.
What the evidence adds up to
In a review of eight patients aged 20 to 70, the main complaint was knee pain and patellar instability. Five required surgery for patellar dislocation; three were not treated. The Krogius–Lecène procedure in four patients gave a good result by the Insall classification for pain and instability over an average follow-up of 24 years (range 18–28). The eldest patient underwent patellectomy for femoropatellar arthritis present at first consultation. No patients in that series presented with elbow or nail disorders or with iliac horns.
A separate small series of four patients found that quadricepsplasties were uniformly successful for recurrent patellar subluxation or dislocation at 10-year follow-up. Radial head resection relieved minor pain and eliminated the bump from a posteriorly dislocated head, but did not improve elbow or forearm range of motion. In another report, a 77-year-old woman who had been one of the first described patients 55 years earlier showed long-term skeletal changes but a lack of significant clinical complaints. Her family history involved multiple individuals with a variable constellation of deformities.
In three patients, a 17-year-old female with permanent bilateral patellar dislocation had hypoplastic patellae and hypoplasia of the lateral femoral condyle. Reefing of the medial retinaculum, release of the lateral retinaculum, and transposition of the tibial tuberosity led to good results.
What is still missing are prospective trials with standardised outcome measures, larger patient cohorts to account for the variable expression of the syndrome, and any drug-based intervention studies. No medical therapy has been tested in these patients; all reported management is surgical. The natural history data come from small, retrospective, single-centre series with no control group.
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 Pediatric Orthopaedics B · 2003 · 19 citations
Nail-patella syndrome: long term evolution
AbstractNail-patella syndrome is a rare dysplasia characterized by a typical tetrad: hypoplasic nails, hypoplasic or absent patella, radial head dislocation and iliac horns. We review eight patients, four men and four women, aged from 20 to 70 years. The main complaint at consultation was with their knees due to patellar instability and pain. Five of them required surgical treatment due to patellar dislocation and three patients were not treated. The Krogius–Lecène procedure was performed in four patients with a good result following the Insall classification of pain and instability and with an average follow-up of 24 years (range, 18–28 years). Patellectomy was performed in the eldest patient due to femoropatellar arthritis present at first consultation. No patients presented with elbow or nail disorders or with iliac horns.
Journal of Pediatric Orthopaedics · 1983 · 18 citations
Long-Term Follow-up of the Treatment of a Family with Nail-Patella Syndrome
AbstractPatients with nail-patella syndrome have deformities of the elbows and knees which can cause bothersome symptoms requiring treatment. We have found in a small series of four patients that quadricepsplasties have been uniformly successful in treating recurrent subluxation or dislocation of the patella at 10-year follow-up. Radial head resection has been effective in relieving minor amounts of pain and eliminating the bump caused by the posteriorly dislocated head. The range of motion of the elbow and forearm has not been improved.
Journal of Pediatric Orthopaedics B · 2002 · 9 citations
Nail Patella Syndrome. A 55-year Follow-Up of the Original Description
AbstractThe long-term skeletal changes and the lack of significant clinical complaints in a 77-year-old woman with nail patella syndrome are described. Fifty-five years previously she was one of the first reported patients. These early patients came from two families with involvement of multiple individuals with the variable constellation of deformities. We reviewed her skeletal natural history and her family history as it related to nail patella syndrome involvement and treatment, and correlated the original premolecular biology description and subsequent long-term follow-up with the current molecular and genetic concepts of the cause of the variable expression of nail patella syndrome.
Journal of Pediatric Orthopaedics B · 2002 · 2 citations
Nail Patella Syndrome. A 55-year Follow-Up of the Original Description
AbstractThe long-term skeletal changes and the lack of significant clinical complaints in a 77-year-old woman with nail patella syndrome are described. Fifty-five years previously she was one of the first reported patients. These early patients came from two families with involvement of multiple individuals with the variable constellation of deformities. We reviewed her skeletal natural history and her family history as it related to nail patella syndrome involvement and treatment, and correlated the original premolecular biology description and subsequent long-term follow-up with the current molecular and genetic concepts of the cause of the variable expression of nail patella syndrome.
Operative treatment for the knee of nail-patella syndrome.
AbstractWe have found three patients with nail-patella syndrome. A 17-year-old female with parmanent dislocations of the patella bilatrally had hypoplastic patellae in addition to hypoplasia of the lateral femoral condyle. Reefing of the medial retinaculum, release of the lateral retinaculum of the patella and transposition of the tuberositus tibiae have led to good results.
AbstractSUMMARYNail-patella syndromeNail-patella syndrome is a connective-tissue disorder with an autosomal dominant pattern of inheritance, characterized by hypoplasia or aplasia of patellae, nail dysplasia, elbow deformities and bilateral posterior iliac horns. In this study, Nail-patella dyndrome was diagnosed in a 29 year-old man. We have discussed it's clinical and radiological features in view of relevant literature.ÖzetNail-patella sendromu, otosomal dominant genetik geçiş gösteren bir yu¬muşak doku hastalığıdır. Sendromun karakteristik bulguları, bilateral pos¬terior iliak boynuzlar, patella hipoplazi veya aplazisi, tırnak displasileri ve dirsek deformiteleridir. Bu makalede, 29 yaşında bir erkek hastada tanım¬lanan Nail-patella sendromu klinik ve radyolojik özellikleri ile sunulmuş, ayrıca konu ile ilgili literatür gözden geçirilmiştir.
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.
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