DeCure for Spondylocarpotarsal synostosis syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for spondylocarpotarsal synostosis syndrome — 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 moduleSpondylocarpotarsal synostosis syndrome 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 spondylocarpotarsal synostosis 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
filamin B (FLNB) — FLNB 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 4B7L · 2.05 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Spondylocarpotarsal synostosis syndrome is an autosomal recessive condition defined by short stature, carpotarsal coalition, and vertebral fusion without rib anomaly. A 2013 case report describes a 7-year-old boy with the syndrome who also had urolithiasis; the authors state this association had not been reported before. A 2024 case report presents a 28-year-old man with neck and shoulder pain for one year, radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic testing in that patient found mutations in GMNN and DLL1, which the authors say is the first report linking those genes to the syndrome. The primary known genetic cause remains filamin B mutation.
The 2014 survey on sagittal synostosis management is about nonsyndromic cases, not spondylocarpotarsal synostosis syndrome. It reports that among 59 craniofacial surgeons, 63% cited skull deformity as the main treatment indication, open surgery was most often done at 6 months (35% of respondents), total cranial vault remodeling was the most common procedure (37%), and 35% chose an endoscopic approach for infants under 4 months. Only 10% used spring-assisted strip craniectomy. The survey found wide variation in practice and significant discrepancies between current practice and published literature. The 2015 reply about radioulnar synostosis in spondyloarthritis is a diagnostic clarification and does not provide data on treatment or outcomes for spondylocarpotarsal synostosis syndrome.
No drug treatment is mentioned in any of these abstracts. No clinical trial data, no survival rates, no response rates, and no evidence of efficacy for any intervention in spondylocarpotarsal synostosis syndrome are reported. What is missing is any funded research into pharmacological therapy, any trial design for drug repurposing, and any patient stratification beyond the handful of case reports. The literature consists entirely of single-case descriptions and a survey on an unrelated condition.
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 Craniofacial Surgery · 2014 · 51 citations
Management of Sagittal Synostosis
AbstractBACKGROUND: In the craniofacial surgery literature, there is a wide disparity of opinions regarding the appropriate treatment of nonsyndromic sagittal synostosis. With the lack of level 1 evidence to support a particular regimen, our study aims to elucidate the current state of practice among craniofacial surgeons with the hope of establishing a standard of care. METHODS: An internet-based survey was sent to 102 craniofacial surgeons in 14 countries on 4 continents. Data were collected regarding the following parameters: primary indication for surgery, preference of timing, and choice of operative intervention for patients presenting with nonsyndromic isolated sagittal synostosis with normative intracranial pressure values. Surgeons were also queried regarding preoperative, intraoperative, and postoperative protocols. RESULTS: After 2 mailings, the response rate was 58% (59/102). For 63% of respondents, skull deformity was the primary indication for treatment of craniosynostosis. Open surgical management of sagittal craniosynostosis was most commonly performed at 6 months (35%) of age. Total cranial vault remodeling was the most commonly performed procedure (37%). Thirty-five percent of craniofacial surgeons chose an endoscopic surgical approach for patients presenting at younger than 4 months. Only 10% of craniofacial surgeons selected spring-assisted strip craniectomy. Seventy-one percent of polled surgeons performed computed tomographic scans of the skull in all cases, irrespective of presentation. CONCLUSION: Our survey demonstrates that there exists a wide disparity of opinion regarding diagnosis and treatment of nonsyndromic sagittal synostosis. When current practice is compared to findings in the literature, significant discrepancies exist.
American Journal of Medical Genetics · 1998 · 26 citations
Three new cases of spondylocarpotarsal synostosis syndrome: Clinical and radiographic studies
AbstractSpondylocarpotarsal synostosis syndrome (SSS) or congenital synspondylism is a recently delineated clinical entity. At least 15 patients have been reported. We present 3 new patients, 2 of whom were sibs born to first-cousin parents. All of our patients had multiple synostoses involving cervical, thoracic and/or lumbar vertebral bodies and carpal/tarsal bones, scoliosis/lordosis, and short stature. Sensorineural deafness was found in 2 of the 3 patients. Analysis of clinical manifestations suggests clinical variability and genetic heterogeneity in SSS. Of a total of 18 SSS patients, 10 were five pairs of sibs from five families, with first-cousin consanguinity of parents in 3, indicating that at least one type of SS is an autosomal-recessive disorder.
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH · 2013 · 3 citations · open access
Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence
AbstractSpondylocarpotarsal synostosis syndrome (SSS) is an autosomal recessive condition which is characterized by short stature, a carpotarsal coalition and a vertebral fusion, but without any rib anomaly. We are presenting a 7- year- old boy, who had uroliathiasis with the spondylocarpotarsal synostosis syndrome. This association, to the best of our knowledge, has not been reported so far.
The Journal of Rheumatology · 2015 · 1 citations · open access
Drs. Maharaj and Chandran reply
AbstractWe thank Dr. Rothschild 1 for raising an important issue. We do agree with you that synostosis does occur in spondyloarthritis, as has been well documented. We were anticipating this question and hence included radiographs of the hands in the specific patient. There are no radiographic features of psoriatic arthritis (PsA) such as erosions, new bone formation, and pencil-in-cup appearance on any other radiographs of this patient. Moreover, radioulnar joint involvement is quite uncommon in patients with PsA. The typical radiographic features and the absolute symmetry of these lesions support a diagnosis of congenital fusion of the superior radioulnar joint 2 . Had this been synostosis related to the PsA, one would have expected, at least, some radiographic evidence elsewhere.
Yeungnam University Journal of Medicine · 2024 · 0 citations · open access
<i>GMNN</i> and <i>DLL1</i> mutation-related spondylocarpotarsal synostosis: a case report
AbstractSpondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.
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.
