DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for multiple epiphyseal dysplasia type 1 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleMultiple epiphyseal dysplasia type 1 maps to a 2-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 multiple epiphyseal dysplasia type 1 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 I alpha 1 chain (COL1A1) — COL1A1 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 eladrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7E7B · 2.6 Å · ligand Elaidic acid (ELA). Experimental structure, not a prediction.
What the evidence adds up to
A 2022 report describes the first case of multiple epiphyseal dysplasia type 1 caused by a homozygous variant in the COMP gene, inherited recessively from consanguineous parents. The patient had atypical signs including limited forearm extension and supination, severe bilateral ulnar clubhand, plano-valgus foot deformity, and generalised muscle weakness with gait disturbances; myopathic signs were the most prominent clinical feature. The authors note that radiological and neurophysiological data can help distinguish this from congenital myopathies. No treatment or outcome data are given.
A 2010 paper reports a 9-year-old Korean girl with recessive multiple epiphyseal dysplasia caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene, inherited from both parents. This was the first Korean case attributed to DTDST mutations. No clinical outcomes or treatments are described.
A 2023 case report describes a 7-year-old boy with multiple epiphyseal dysplasia type 5, caused by a de novo mutation in the MATN3 gene, with no family history. He had three years of joint pain, fatigue, and pain in knees and ankles, plus epicanthus, left hemifacial microsomia, metacarpophalangeal joint laxity, and vitamin D deficiency. The authors state that treatment goals in children are to prevent early osteoarthritis, improve function, and educate families, and that early diagnosis may slow progression and minimise early surgery. No specific drug, therapy, or quantitative outcome is reported.
No drug treatment is tested or recommended in any of these abstracts. What is missing for multiple epiphyseal dysplasia type 1 specifically are clinical trials, any pharmacological intervention, patient stratification by genotype, and natural history data that could inform trial design.
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 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 Translational Medicine · 2022 · 1 citations · open access
A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance
AbstractMultiple epiphyseal dysplasia type 1 is one of the most common autosomal dominant types of the genetically heterogeneous group of skeletal dysplasias characterized by impaired ossification of the epiphyses of long bones. To date, it is known that the disease is caused by heterozygous variants in the COMP gene and is characterized by a significant variability in the clinical manifestations. We report the first case of a patient with MED 1 caused by novel homozygous single nucleotide variant c.2170dupG (p.Val724Glyfs*20) in the COMP gene identified by whole-exome sequencing. The following segregation analysis in the family found a detected variant in heterozygous state in healthy consanguineous parents of the proband. Clinical and radiological examination revealed the atypical signs of epiphyseal dysplasia including limited range of extension and supination of both forearms, severe bilateral ulnar clubhand, plano-valgus deformity of the feet and generalized muscle weakness with gait disturbances. Among the clinical features, myopathic signs were the most prominent. The radiological and neurophysiological data can be helpful in the differential diagnostics with the congenital myopathies. The novel homozygous variant in the COMP gene that caused multiple epiphyseal dysplasia 1 with autosomal recessive inheritance can contribute to the more detailed description of genotype–phenotype correlations, which will allow research to understand better the role of the C-terminal domain of COMP.
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.
