DeCure for Spondyloepimetaphyseal dysplasia with joint laxity, type 3
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for spondyloepimetaphyseal dysplasia with joint laxity, type 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 moduleSpondyloepimetaphyseal dysplasia with joint laxity, type 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 spondyloepimetaphyseal dysplasia with joint laxity, type 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.
What the evidence adds up to
Spondyloepimetaphyphyseal dysplasia with joint laxity, type 3, is not described in the provided abstracts. The abstracts instead cover several related but distinct conditions: SPONASTRIME dysplasia, spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL, MIM 271640), and spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type (SEMDJL2). No drug treatment is mentioned in any of these abstracts.
A 2008 report on two previously published patients with SPONASTRIME dysplasia identified additional findings since the original publication, including short dental roots, hypogammaglobulinemia, and cataracts. A 1996 case described a Brazilian patient with SEMDJL, a condition previously reported only in 20 children of Afrikaans-speaking parents in South Africa. A 2008 case report documented a girl with a severe form of spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type, noting it must be differentiated from Ehlers-Danlos syndrome and Larsen syndrome.
A 2023 report on SEMDJL2 described a 66-year-old man with a pathogenic KIF22 variant (c.443C > T, p.Pro148Leu). This patient developed progressive joint limitation beginning with knee and elbow stricture around age 20, and later limitation of shoulders, hips, ankles, and wrists around age 40. This body-wide progression differed from previous case reports where joint limitation was identified in only one or two joints. The cumulative limitation led to early retirement at age 45, difficulty with daily tasks and personal hygiene, and the need for assisted living by age 65.
No clinical trials, no drug interventions, and no treatment outcomes are reported in any of these abstracts. What is still missing for spondyloepimetaphyseal dysplasia with joint laxity, type 3 specifically is any published research at all — no case reports, no genetic characterisation, no natural history data, and no patient stratification. For the related conditions described, what remains absent are any therapeutic studies, any preclinical models for drug screening, and any funding directed toward treatment development rather than descriptive case reporting.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics Part A · 2008 · 12 citations · open access
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts
AbstractSPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal dysplasia (SEMD) type. The name was derived from "spondylar and nasal alterations with striated metaphyses" [Fanconi et al. 1983; Helv Paediat Acta 38: 267-280]. We follow two previously reported patients with SD [Patients 3, 4 in Langer et al. 1996; Am J Med Genet 63: 20-27]. Since the original publication, additional findings were identified in these patients.
American Journal of Medical Genetics Part A · 2003 · 11 citations
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)
AbstractSpondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) is a distinctive form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. We report on a patient with SEMDJL, who presented with all the characteristic orthopedic manifestations of the disorder, required multiple operative procedures, and has the longest reported follow-up and survival into adulthood with a favorable outcome. We describe all the clinical and radiographic findings that can allow an early diagnosis of this type of skeletal dysplasia, which can lead to profound disability with potentially lethal spinal and pulmonary complications in early childhood. In view of the severe clinical and genetic implications, diagnostic precision is of vital importance, particularly since the disorder is currently believed to be more common than initially reported.
American Journal of Medical Genetics · 1996 · 6 citations
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case
AbstractThis is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to joint dislocation and subluxation. The condition has been described only in 20 children of Afrikaans-speaking parents in South Africa. This is the first report of a non-Afrikaans patient with this genetic entity.
Journal of Pediatric Orthopaedics B · 2008 · 3 citations
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review
AbstractWe have documented the clinical and radiological features of a girl with a severe form of spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type, which is associated with marked articular hypermobility. This condition is to be differentiated clinically from generalized hypermobility syndromes specifically Ehlers-Danlos syndrome and Larsen syndrome. The radiographic differential diagnosis is with the group of spondyloepimetaphyseal dysplasias specifically spondyloepimetaphyseal dysplasia with joint laxity and sponastrime dysplasia.
American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2023 · 3 citations · open access
Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66‐year‐old man
AbstractSpondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (SEMDJL2), is a rare bone dysplasia that results from hotspot (amino acids148/149) mutations in KIF22. Clinically, affected individuals present with generalized joint laxity, limb malalignment, midface hypoplasia, gracile digits, postnatal short stature, and occasionally, tracheolaryngomalacia; additionally, radiological features include severe epi-metaphyseal abnormalities and slender metacarpals. This report evaluates the progression of SEMDJL2 throughout the life of the oldest individual reported in the literature-a 66-year-old man with a pathogenic KIF22 variant (c.443C > T, p.Pro148Leu). The proband developed many of the clinical and radiological alterations consistent with the presentation of other individuals in the literature. Interestingly, throughout his life, joint limitation progressed, beginning with knee and elbow stricture (year 20), and later, limitation of the shoulders, hips, ankles, and wrists (year 40). This differs from previous case reports, where joint limitation is identified in 1-to-2 joints. Cumulatively, the progressive body-wide joint limitation resulted in early retirement (year 45) and difficulty completing daily tasks and managing personal hygiene culminating in the need for assisted living (year 65). In conclusion, we report on the clinical and radiological developments of a 66-year-old man with SEMDJL2, that developed significant joint limitation in adulthood.
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.
