DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for epiphyseal dysplasia, multiple, 3 — 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 moduleEpiphyseal dysplasia, multiple, 3 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 epiphyseal dysplasia, multiple, 3 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
collagen type IX alpha 3 chain (COL9A3) — COL9A3 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 5CVA · 2.098 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
The epiphyseal dysplasias are a heterogeneous group of disorders defined by defective or excessive bone formation in the secondary ossification centres of the tubular bones and sometimes the vertebrae. Most are caused by mutant genes, and their pathogenesis is unknown. Differentiation of the entities is essential for management and genetic counselling. Multiple epiphyseal dysplasia itself involves more than six genes. Recessive mutations in the DTDST (SLC26A2) gene cause a recessive multiple epiphyseal dysplasia phenotype. A 2010 report described a 9-year-old Korean girl with novel compound heterozygous DTDST mutations inherited from both parents, the first Korean case attributed to that gene.
A 2023 case report described a 7-year-old boy with a de novo mutation in the MATN3 gene at 2p24.1, causing multiple epiphyseal dysplasia type 5, which is usually autosomal dominant. He presented with three years of joint pain, fatigue, and pain in knees and ankles, and had epicanthus, left hemifacial microsomia, metacarpophalangeal joint laxity, and a proportional arm. Laboratory findings showed only vitamin D deficiency. X-rays showed dysplastic epiphyses, especially in the ankle. The authors note that early-onset osteoarthritis, arthralgia, small proximal femoral epiphyses, wide short femoral neck, coxa vara, high greater trochanter, small irregular epiphyses in several long bones, mild metaphyseal irregularities, genu valgum, and delayed carpal and tarsal ossification may accompany the condition. Some patients present only with non-healing, unidentified joint pain. A 2021 case report of a 2-year-old with multiple epiphyseal dysplasia described the condition as a group of cartilage and bone development disorders primarily affecting the epiphyses, with autosomal dominant and recessive forms characterised by short stature, joint pain, waddling gait, joint deformity (valgus), early-onset osteoarthritis, and normal mental development and blood parameters.
No drug treatment is mentioned in any of these abstracts. The goals of treatment in children are to prevent early osteoarthritis, improve function, and educate families about the natural history and genetic basis. What is still missing are any clinical trials, any drug repurposing data, any patient stratification beyond genetic diagnosis, and any funding for therapeutic development in this rare disease 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.
Clinical Orthopaedics and Related Research · 1976 · 40 citations
The Epiphyseal Dysplasias
AbstractThe epiphyseal dysplasias are a group of heterogeneous disorders characterized by defective or excessive bone formation in the secondary ossification centers of the tubular bones and sometimes the vertebrae. Most of them are caused by the defective action of mutant genes. Their pathogenesis is unknown. Differentiation of the various entities in this group is essential for the proper management and genetic counseling of the patients.
Journal of Korean Medical Science · 2010 · 17 citations · open access
Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
AbstractMultiple epiphyseal dysplasia is caused by heterogeneous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Korean rMED case attributed to DTDST mutations, and expands the spectrum of diseases caused by DTDST mutations.
International Journal of Surgery Case Reports · 2023 · 2 citations · open access
Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children
AbstractINTRODUCTION AND IMPORTANCE: Multiple epiphyseal dysplasia, which affects the epiphysis of long bones, can show autosomal dominant and autosomal recessive inheritance patterns (Ballhausen et al., 2003 [1]). The symptoms typically appear in childhood, although they sometimes do not show symptoms until adulthood. The goals of treatment in children are to prevent the early onset of osteoarthritis, improve function, and educate patients and their families about the natural history and genetic basis of the disease. Some patients present to the clinic with only non-healing and unidentified joint pain. Although multiple epiphyseal dysplasia type 5 is a rare disease with autosomal dominant inheritance in general, it can also be observed with de novo mutation, although very rarely, without a family history. CASE PRESENTATION: 7-years-old male patient was admitted to our orthopedics outpatient clinic with complaints of joint pain, fatigue, and pain in the knees and ankles that had lasted for about 3 years. He had epicanthus, left hemifacial microsomia, and metacarpophalangeal joint laxity. The arm was proportional to the body. In the laboratory, there was no obvious finding other than vitamin D deficiency. The epiphyses, especially in the ankle, were dysplasic on Xray. After genetic tests we detected multiple epiphyseal dysplasia type 5, with de novo mutation, without family histories. CLINICAL DISCUSSION: Multiple epiphyseal dysplasia type 5, which is usually an autosomal dominant disease (Ballhausen et al., 2003 [1]) characterized by normal height; it is seen due to heterozygous mutation of matrilin-3 gene (MATN3) at 2p24.1 location. Early-onset osteoarthritis, multiple epiphyseal dysplasia, arthralgia, small proximal femoral epiphyses, wide and short femoral neck, coxa vara, high greater trochanter, small, irregular epiphyses (distal femoral, proximal tibia, distal radius, distal ulna), mild metaphyseal irregularities (distal femoral, proximal tibia, proximal humeri, distal radius, distal ulna), genu valgum may accompany. In hands; small, irregular epiphyses (first metacarpal), delayed carpal ossification may be seen. Delayed tarsal ossification can be observed in the feet. On the other hand, some patients present to the clinic with only non-healing and unidentified joint pain. Although multiple epiphyseal dysplasia type 5 a rare disease with autosomal dominant inheritance in general, it can also be observed like our case with de novo mutation, although very rarely, without a family history. CONCLUSION: Multiple epiphyseal dysplasia type 5 is a rare disease. It should be kept in mind that skeletal dysplasia should also be evaluated, although it is rarely seen in patients with persistent joint pain. Thus, we can both slow down the progression with early diagnosis of the patient and minimize the early surgical requirements.
International Journal of Biology Pharmacy and Allied Sciences · 2021 · 0 citations · open access
CASE REPORT: RARE CASE OF MULTIPLE EPIPHYSEAL DYSPLASIA IN 2 YEAR OLD
AbstractMultiple epiphyseal dysplasia is a group of disorder of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses) [3]. Two types of MED which are distinguished by their patterns of inheritance-autosomal dominant and autosomal recessive characterised by short stature, joint pain, waddling gait, joint deformity (valgus) , early onset osteoarthritis with normal mental development and blood parameters.
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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