DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for fetal akinesia deformation sequence 1 — screening already-approved drugs against its 36-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleFetal akinesia deformation sequence 1 maps to a 36-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 fetal akinesia deformation sequence 1 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
cholinergic receptor nicotinic delta subunit (CHRND) — CHRND 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 clrdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9DMS · 1.92 Å · ligand CHOLESTEROL (CLR). Experimental structure, not a prediction.
What the evidence adds up to
The 1988 review of 948 previable fetuses identified 16 cases of fetal akinesia deformation sequence. In eight of those fetuses, joint contractures, micrognathia, and pulmonary hypoplasia were attributed to an abnormal intrauterine environment that restricted movement. The other eight fetuses had pterygia across immobilised joints in addition to the main manifestations; most of these were only 8–9 weeks developmental age, suggesting that embryonic onset of immobility interferes with limb development and results in joint fixation and pterygium formation, whereas fetal-onset immobility causes joint contractures alone.
A 1991 review describes two sequences that share phenotypic manifestations such as arthrogryposis, short umbilical cord, and lung hypoplasia, all related to decreased intrauterine fetal motility. In oligohydramnios sequence, Potter face and redundant skin are produced by fetal compression. In fetal akinesia deformation sequence, growth retardation, craniofacial anomalies, micrognathia, long bone hypoplasia, and polyhydramnios could be related to intrauterine muscular weakness.
A 1995 article classifies the aetiology of fetal akinesia into five categories: neuropathy, myopathy, restrictive dermopathy, teratogen exposure, or restricted movement due to intrauterine constraint. It discusses prenatal diagnosis, prognosis, perinatal management, and recurrence risks but provides no quantitative data on survival or response rates.
A 2019 German-language article notes that the genetic aetiology of fetal akinesia is insufficiently researched and that with over 300 arthrogryposis-associated genes currently known, it represents a diagnostic challenge. No drug, treatment, or intervention is mentioned in any of these abstracts. What is still missing is a systematic genetic and mechanistic understanding of the condition, adequate funding for genomic studies in affected families, and any clinical trial design that could test a therapeutic strategy, given that patient stratification by aetiological category remains incomplete.
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 · 1991 · 50 citations
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence
AbstractThis article briefly reviews the participation of fetal compression, muscular weakness, and fetal akinesia in the genesis of the anomalies found in fetal akinesia deformation sequence (FADS) and oligohydramnios sequence (OS). Both sequences share phenotypic manifestations, such as arthrogryposis, short umbilical cord, and lung hypoplasia, in relation to decreased intrauterine fetal motility. Other characteristic manifestations found in OS, such as Potter face, and redundant skin, are produced by fetal compression. On the other hand, growth retardation, craniofacial anomalies, micrognathia, long bone hypoplasia, and polyhydramnios found in FADS could be related to intrauterine muscular weakness.
AbstractNormal fetal growth and development during pregnancy is highly dependent upon adequate fetal movement. Limitation of movement, regardless of the underlying cause, can result in a particular pattern of abnormal fetal morphogenesis. This phenotype is termed the fetal akinesia deformation sequence (FADS). The etiology of fetal akinesia may be generally classified into one of five categories: neuropathy, myopathy, restrictive dermopathy, teratogen exposure, or restricted movement due to intrauterine constraint. In this article, the differential diagnosis of fetal akinesia is systematically reviewed and information regarding prenatal diagnosis, prognosis, perinatal management, and recurrence risks are discussed.
American Journal of Medical Genetics · 1988 · 33 citations
Fetal akinesia deformation sequence in previable fetuses
AbstractWe reviewed the morphologic findings of 948 previable fetuses and identified the fetal akinesia deformation sequence (FADS) in 16 cases. In eight fetuses who had joint contractures, micrognathia, and pulmonary hypoplasia, the cause of fetal akinesia could be attributed to an abnormal intrauterine environment restricting fetal movement. The other eight fetuses had pterygia across the immobilized joints, in addition to main manifestations of FADS. Since most of the fetuses with pterygia were of only 8-9 weeks developmental age, we suggest that embryonic onset of immobility interferes with limb development and results in joint fixation and pterygium formation, in contrast to fetal-onset immobility, which causes joint contractures alone.
Ultrasound in Obstetrics and Gynecology · 2001 · 25 citations · open access
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy
AbstractOBJECTIVE: To monitor behavioral development in a fetus affected by the Pena-Shokeir phenotype due to fetal akinesia deformation sequence of myogenic origin. METHODS: Fetal behavioral development was studied sonographically in a fetus suspected of having fetal akinesia deformation sequence, between 15 and 35 weeks of gestation at 1-4-week intervals. RESULTS: Fetal body movements were quantitatively and qualitatively abnormal from 28 weeks onwards. Behavioral deterioration coincided with the observation of structural anomalies such as club feet. Fetal heart rate and its variation remained within normal limits and showed normal ultradian cyclicity, but the temporal linkage between body movements and heart rate pattern worsened with advancing gestation. Breathing movements, although present until the end of pregnancy, became increasingly shallow. CONCLUSION: Our results provide sound evidence that the trajectory of behavioral development with fetal akinesia deformation sequence, which has been hypothesized to occur in man exclusively on the basis of retrospective analyses and animal experiments, does indeed take place.
International Journal of Reproduction Contraception Obstetrics and Gynecology · 2014 · 2 citations · open access
Fetal akinesia deformation sequence: a case report and review of literature
AbstractFetal Akinesia Deformation Sequence (FADS) is a condition characterised by decreased fetal movement (fetal akinesia), multiple joint contractures (arthrogryposis), facial anomalies, intrauterine growth restriction, pulmonary hypoplasia and other developmental abnormalities. These disorders are clinically and genetically heterogenous and its etiology remains unclear. This syndrome is rare and the primary diagnosis is made when lack of mobility is noted in routine ultrasound scanning. The increasing use of ultrasound has enabled earlier detection of these cases. A 20 year old primi in her routine ultrasound at 14weeks of gestation showed features fetal akinesia deformation sequence with increased nuchal translucency and hydrops. Early diagnosis, prenatal evaluation and better understanding of the ultrasound findings will be helpful for genetic counselling and clinical management.
AbstractFetal Akinesia Deformation Syndrome (FADS) ist der syndromale Sammelbegriff für Erkrankungen mit einem bilateralen arthrogrypotischen Phänotyp, aufgrund intrauteriner Minderbewegung. Die genetische Ätiologie der fetalen Akinesie ist ungenügend erforscht und stellt mit aktuell über 300 mit Arthrogrypose-assoziierten Genen eine diagnostische Herausforderung dar.
Donald School Journal of Ultrasound in Obstetrics & Gynecology · 2018 · 0 citations · open access
Fetal Neuropathology and Abnormal Motor Assessment—Fetal Akinesia Deformation Sequence: KANET is of Additional Value for the In Utero Diagnosis
AbstractThe fetal activity has a fundamental role in forming the fetal gestalt. Fetal movements produce biomechanical stress, with distinct biochemical effects determining the morphogenesis of the musculoskeletal apparatus. As a result of normal maturation of the fetal brainstem, and shaped by general movements (GMs) and increasing variability of highly differentiated isolated movements, the typical human fetal gestalt evolves. KANET scoring system allows quantitative and qualitative determination and analysis of fetal movements and gestalt during the second and the third trimesters. The diagnostic efficiency of KANET in detecting abnormal fetal behavior and neuromorbidity is demonstrated with two cases of fetal akinesia deformation sequence (FADS).
International Journal of Medical Science and Dental Health · 2024 · 0 citations · open access
Severe Fetal Akinesia At 19 Weeks: A Case Report
AbstractThe term "fetal akinesia" is defined as a complete or partial absence of fetal movements. It can occur in isolation or be associated with other malformations, some of which can be lethal. The first observations of this syndrome were made by Péna and Shokeir in 1974 [1]. Since then, several cases have been reported, though the syndrome remains rare, with an estimated frequency between 1 in 3,000 and 1 in 15,000 births [2]. In some cases, the risk of recurrence can be as high as 25% [3]. In practice, the detection of fetal akinesia during an ultrasound examination is always a source of anxiety, accompanied by diagnostic, etiological, and therapeutic challenges.
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.
