Rare & Orphan Lab · DeCure for X

DeCure for Schmid metaphyseal chondrodysplasia

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Schmid metaphyseal chondrodysplasia — 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 module1 genesLead labRare & Orphan
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Rare & OrphanDOID:0080021$DeCureRare

The disease map

Disease moduleSchmid metaphyseal chondrodysplasia 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 schmid metaphyseal chondrodysplasia 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 X alpha 1 chain (COL10A1)COL10A1 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 3-cholamidopropyldrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 1GR3 · 2.0 Å · ligand 3-[(3-CHOLAMIDOPROPYL)DIMETHYLAMMONIO]-1-PROPANESULFONATE (CPS). Experimental structure, not a prediction.

What the evidence adds up to

Schmid metaphyseal chondrodysplasia is a rare hereditary skeletal disorder characterised by disproportionate dwarfism that spares the trunk. A 2002 case report describes a boy followed for 17 years until skeletal maturity who underwent proximal femoral valgus osteotomies, tibial deformity correction with lengthening, and femoral lengthening procedures. A 1992 report of three cases followed radiologically for an average of 8.8 years from infancy found that metaphyseal abnormalities remodelled in a consistent order: proximal femur first, then proximal tibia and fibula, then distal tibia, and finally distal femur. In one of the three cases remodelling occurred earlier than in the other two.

A 2019 review based on the author’s Fell-Muir Lecture states that potential treatments for this disorder are currently entering clinical trial. The review gives a personal perspective on the author’s laboratory’s contributions to research into type X collagen and metaphyseal chondrodysplasia type Schmid over more than three decades.

No clinical trial results, response rates, or survival data are reported in any of these abstracts. The 2019 review does not name any specific drug or intervention that has reached a clinical trial, nor does it provide any efficacy data. What remains missing is any published evidence from a completed clinical trial, any identified drug candidate with demonstrated benefit in patients, and any systematic approach to patient stratification that might predict who would respond to a given treatment.

Evidence

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

International Journal of Experimental Pathology · 2019 · 2 citations · open access

Gene cloning to clinical trials—the trials and tribulations of a life with collagen

AbstractThis review, based on the BSMB Fell-Muir Lecture I presented in July 2018 at the Matrix Biology Europe Conference in Manchester, gives a personal perspective of my own laboratory's contributions to research into type X collagen, metaphyseal chondrodysplasia type Schmid and potential treatments for this disorder that are currently entering clinical trial. I have tried to set the advances made in the context of the scientific technologies available at the time and how these have changed over the more than three decades of this research.

https://doi.org/10.1111/iep.12311
The Journal of the Korean Orthopaedic Association · 2002 · 0 citations

Schmid Type of Metaphyseal Chondrodysplasia: 17 years Follow-up Case

AbstractMetaphyseal chondrodysplasia (MCD) is a relatively rare hereditary disease of the skeletal system, in which disproportionate dwarfism sparing the trunk is noted. Among the four subtypes of MCD, the Schmid type is relatively common and shows minimal clinical abnormalities. We report a boy, diagnosed to have MCD, Schmid type, and who was followed-up for 17 years until skeletal maturity, during this period he underwent proximal femoral valgus osteotomies as well as tibial deformity correction with lengthening and femoral lengthening procedures.

https://doi.org/10.4055/jkoa.2002.37.4.567
Orthopedics & Traumatology · 1992 · 0 citations · open access

Roentgenographic Investigation in Lower Extremities of Metaphyseal Chondrodysplasia (Schmid Type), A Report of Three Cases.

AbstractWe have reported upon the roentgenologic changes found in the lower extremities of three typical cases with metaphyseal chondrodysplasia (Schmid Type). These cases had been followed-up, radiologically for an average of 8.8 years since infancy. In the three cases, metaphyseal abnormalities found on the roentgenogram, in order of site of remodelling, were as follows: 1) proximal end of the femur 2) proximal end of tibia, proximal end of fibula and the distal end of the fibula 3) distal end of the tibia 4) distal end of the femur. Metaphyseal abnormalities found on the roentgenogram in case 3 had undergone remodelling earlier than that in cases 1 or 2.

https://doi.org/10.5035/nishiseisai.41.1

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.