Rare & Orphan Lab · DeCure for X

DeCure for Arthrogryposis multiplex congenita 3, myogenic type

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for arthrogryposis multiplex congenita 3, myogenic type — 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 module2 genesLead labRare & Orphan
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Rare & OrphanDOID:0080979$DeCureRare

The disease map

Disease moduleArthrogryposis multiplex congenita 3, myogenic type 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 arthrogryposis multiplex congenita 3, myogenic type 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

spectrin repeat containing nuclear envelope protein 1 (SYNE1)SYNE1 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 pgedrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 6R15 · 1.82 Å · ligand TRIETHYLENE GLYCOL (PGE). Experimental structure, not a prediction.

What the evidence adds up to

Arthrogryposis multiplex congenita (AMC) is defined by multiple joint contractures present before birth, affecting roughly 1 in 3000 individuals with equal incidence in males and females. It is linked to over 400 medical conditions and 350 known genes, with the primary mechanism being decreased fetal movement during development. No drug treatment is described in any of these abstracts. One 2015 review states the condition is nonprogressive and that rehabilitation should begin early after diagnosis, but provides no drug data. A 2020 case report describes multidisciplinary management for a newborn with a positive family history but again mentions no pharmacological intervention.

Surgical outcomes are reported in one retrospective study of seven children (ten dislocated hips) treated with open reduction via an anteromedial approach. Mean age at surgery was 5.5 months, with a mean follow-up of 9.5 years. Preoperative mean range of motion in flexion and abduction was 108°, improving to 125° postoperatively. At last evaluation, eight hips were centred and two were subluxated; two hips later required Salter iliac osteotomy. Two hips (20%) developed Ogden type IV avascular necrosis. Eight hips had good results, two were fair.

The remaining abstracts are reviews or case reports that describe diagnostic imaging, genetic heterogeneity, and the importance of early diagnosis for family counselling. None report any drug therapy, any molecular target for a drug, or any clinical trial of a pharmacological agent. There is no evidence of any drug being tested or used for AMC in these papers.

What is missing is any clinical trial, any preclinical drug study, any identified drug target, and any funding directed toward pharmacological treatment for this condition. The literature remains confined to surgical correction of contractures and supportive rehabilitation. Without a molecular mechanism that can be modulated by a drug, and without any trial design or patient stratification strategy, no repurposing candidate can be proposed from these data.

Evidence

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

The Journal of Maternal-Fetal & Neonatal Medicine · 2017 · 32 citations

Arthrogryposis multiplex congenita <i>in utero</i>: radiologic and pathologic findings

AbstractArthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. It affects approximately 1 in 3000 individuals, mostly reported in individuals of Asian, African and European descent with equal incidence in males and females. Arthrogryposis is associated with over 400 medical conditions and 350 known genes with considerable variability in phenotypic expression. The primary underlying mechanism is decreased fetal movement during development. Prenatal imaging is crucial in early diagnosis by identifying fetal movement limitations and the presence of club foot or joint contractures. Postnatal autopsy confirms the diagnosis and extent of associated congenital anomalies and provides a valuable source of DNA material. Molecular methods are particularly useful in delineating novel gene mutations, locus heterogeneity and phenotype genotype correlation. Prenatal evaluation with early diagnosis via image scanning and further genetic surveillance give the opportunity for family counseling concerning future pregnancy management and expected neonatal morbidity and mortality.

https://doi.org/10.1080/14767058.2017.1381683
Case Reports in Medicine · 2015 · 12 citations · open access

Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures

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.

https://doi.org/10.1155/2015/379730
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.

https://doi.org/10.1016/s2255-4971(15)30427-4
VIMS Health Science Journal · 2020 · 2 citations · open access

Arthrogryposis Multiplex Congenita: A Rare Case Report

AbstractArthrogryposis Multiplex Congenita is a descriptive term with various etiologies and complex clinical features including multiple joint contractures of various limb joints. It is associated with malformations, malfunctions and neurologic deficiencies. We report the case of a new born term female child admitted at Rural Medical College, Ahmednagar (Maharashtra) with positive family history and evident clinical features of arthrogryposis multiplex congenita. Multidisciplinary management was instituted. This case is presented for its rarity.

https://doi.org/10.46858/vimshsj.7305

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.