DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for arthrogryposis multiplex congenita 5 — 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 moduleArthrogryposis multiplex congenita 5 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 arthrogryposis multiplex congenita 5 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
torsin family 1 member A (TOR1A) — TOR1A 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 atpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5J1S · 1.399 Å · ligand ADENOSINE-5'-TRIPHOSPHATE (ATP). Experimental structure, not a prediction.
What the evidence adds up to
In a 2019 review of upper extremity treatment for arthrogryposis multiplex congenita, initial management consists of stretching and splinting, with significant gains possible in the first years of life. Surgical procedures aim to improve upper extremity function and performance of daily living activities, but the review notes that not all areas need surgical intervention and each patient must be treated individually. Despite overall lower functional scores in this patient population, quality of life scores are comparable to the general age-adjusted population. No drug treatment is mentioned.
A 2010 retrospective study of seven children with arthrogryposis multiplex congenita and hip dislocation (ten dislocated hips) evaluated open reduction through an anteromedial approach. Mean age at surgery was 5.5 months (range 3 to 11 months), with mean follow-up of 9.5 years (range 2 to 13 years). Mean preoperative range of motion in flexion and abduction was 108° (range 70° to 155°), improving postoperatively to 125° (range 75° to 175°). At last evaluation, eight hips were centred and two were subluxated. Two hips (20%) developed Ogden type IV avascular necrosis. Eight hips had good results, two were fair. The authors consider the anteromedial approach a good option for very young patients, but the sample is small and no drug therapy was tested.
A 1961 article from the physical therapy literature describes arthrogryposis multiplex congenita but provides no treatment outcomes or drug data. A 2025 report identifies a recessive splice site variant in the SENP7 gene in a consanguineous family with multiple affected members, expanding the genetic spectrum of SENP7 as a causative gene in rare cases of lethal arthrogryposis. No therapeutic intervention is described.
No drug has been tested or shown to alter the course of arthrogryposis multiplex congenita in these abstracts. What is missing is any clinical trial of a pharmacological agent, funding for such a trial, and a clear patient stratification strategy that accounts for the genetic heterogeneity of the 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.
American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2019 · 36 citations · open access
Treatment and outcomes of arthrogryposis in the upper extremity
AbstractUpper extremity involvement in patients with arthrogryposis multiplex congentia is quite frequent. Treatment initially consists of stretching and splinting as significant gains can be seen in the first years of life. The goal of any surgical procedure is to improve upper extremity function and performance of daily living activities, yet it is important to treat each patient individually and understand that areas do not always need to be addressed surgically. Despite overall lower functioning scores in this patient population, quality of life scores are comparable to the general aged adjusted population. This article will discuss the clinical presentation, treatment procedures and outcomes when addressing the upper extremities of patients presenting with arthrogryposis.
AbstractArthrogryposis multiplex congenita (AMC) is a syndrome characterized by nonprogressive multiple congenital joint contractures. The etiology of disease is multifactorial; it is most commonly suspected from absent fetal movements and genetic defects. AMC affects mainly limbs; also it might present with other organs involvement. It is crucial that the diagnosis of AMC should be kept in mind by musculoskeletal physicians in newborns with multiple joint contractures and patients must begin rehabilitation in early stage after accurate diagnosis in terms of functional independence. We present the diagnosis, types, clinical features, and treatment approaches of this disease in our case with literature reviews.
Revista Brasileira de Ortopedia (English Edition) · 2010 · 8 citations · open access
OPEN REDUCTION OF HIP DISLOCATION IN PATIENTS WITH ARTHROGRYPOSIS MULTIPLEX CONGENITA – AN ANTEROMEDIAL APPROACH
AbstractUNLABELLED: To evaluate the results from surgical treatment of hip dislocation through the anteromedial approach, in patients with arthrogryposis multiplex congenita (AMC). METHODS: The medical files and radiographs of seven children with AMC who presented hip dislocation (total of 10 dislocated hips) were retrospectively reviewed. Pre and postoperative joint mobility was evaluated by summing the joint range of motion in flexion and abduction. The acetabular angle and height of the femoral neck before the operation, and the continuity of the Shenton arc, Sharp angle and center-edge (CE) angle after the operation, were evaluated radiographically. When avascular necrosis was identified, it was classified in accordance with Ogden and Bucholz. RESULTS: The mean age of the children at the time of the surgery was 5.5 months (range: 3 to 11 months). The mean duration of follow-up for the patients was 9.5 years (range: 2 to 13 years). The mean amplitude of the sum of the joint range of motion in flexion and abduction in the preoperative examination was 108° (range: 70° to 155°) and postoperatively, it was 125° (range: 75° to 175°). In the last evaluation, eight hips were found to be centered and two were subluxated. Two hips had been subjected to Salter iliac osteotomy. Two hips (20%) had presented significant signs of Ogden type IV avascular necrosis. Eight hips had good results while two were fair. CONCLUSION: We consider that the anteromedial approach is a good option for treating hip dislocation in very young patients with arthrogryposis multiplex congenita.
AbstractJournal Article Arthrogryposis Multiplex Congenita Get access Eunice R. Dobbs, 1st Lt., AMSC Eunice R. Dobbs, 1st Lt., AMSC 1From the Physical Therapy Clinic, Martin Army Hospital, Fort Benning, Ga. Search for other works by this author on: Oxford Academic Google Scholar Physical Therapy, Volume 41, Issue 3, March 1961, Pages 195–198, https://doi.org/10.1093/ptj/41.3.195 Published: 01 March 1961
Clinical Genetics · 2025 · 1 citations · open access
A Splice Site Variant in <i>SENP7</i> Results in a Severe Form of Arthrogryposis
AbstractArthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1/3000 to 1/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved splice donor site, resulting in the mis-splicing of the affected exons. SENP7 is a deSUMOylase that is critical for sarcomere assembly and skeletal muscle contraction by regulating the transcriptional program in the skeletal muscle. This is a reported case of an affected family with a noncoding, splice site SENP7 variant, expanding the spectrum of SENP7 as a causative gene in rare cases of lethal AMC.
Arthrogryposis multiplex congenita: Report of eight cases.
AbstractArthrogryposis multiplex congenita (AMC) is a syndrome characterized by multiple joint contractures present at birth. It needs a long-term habilitation or performing surgical treatments several times. In this study, the experience in eight cases with AMC was reported.1) In terms of distribution of contracture, in general joints, 4 of 8 cases belonged to “upper and lower limbs type”, whereas in major joints except hands and feet, most cases were divided into “upper limbs type” and “lower limbs type”.2) Multiple surgical treatments were performed in 5 of 8 cases.3) Four of 8 cases had an episode of fracture, mainly in the upper limb.4) Some cases had abnormal delivery or malformation.5) Every case showed normal mentality, except for one case with mental retardation.In AMC, the functional prognosises on ADL were expected to be improving, though long-term treatment and habilitation were needed.
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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