[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"craniosynostoses\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:craniosynostoses":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,40,68,97],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":39},"100374762","burosumab-and-1-25-oh-vitamin-d-on-human-osteoblasts-100374762",false,"NCT04159675","Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts","Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts From Patients Requiring Craniosynostosis Surgery for Idiopathic Reason or Due to Hypophosphatemic Rickets (HR)","HYPO-BLASTES","Inclusion Criteria:\n\n* Children from 4 months-old to 18 years-old\n* Patients requiring craniosynostosis surgery followed by reference centers for rare diseases of calcium and phosphate metabolism \u002F craniofacial malformations\n* Patients and parent \u002F holder of parental authority who have been informed of the study and do not object to participate\n\nExclusion Criteria:\n\n* Patient being treated with oral corticosteroid or having received more than 3 months of corticosteroid treatment before surgery.","ALL","4 Months","18 Years",{"count":21,"type":22},20,"ESTIMATED","OBSERVATIONAL","FGF23 is the cornerstone of phosphate \u002F calcium \u002F vitamin D metabolism: it is synthesized mainly by osteocytes and acts as a phosphaturizing agent, inhibitor of dihydroxyvitamin D, and inhibitor of synthesis and secretion of PTH in most tissues.\n\nThe specific role of FGF23 on bone has yet to be demonstrated. In osteoblasts, overexpression of FGF23 in vitro suppresses not only osteoblastic differentiation but also the synthesis of the mineralized matrix independently of its systemic action on phosphate metabolism. In osteoblasts, FGF23 also regulates the secretion of osteopontin by directly suppressing transcription of alkaline phosphatase.\n\nIn some diseases such as hypophosphatemic rickets (HR), the direct role of FGF23 on bone has not yet been studied to our knowledge, whereas these genetic hypophosphatemias are secondary to overexpression of FGF23, whether an activating mutation of FGF23 or inhibitory mutations of its inhibitors (DMP1 and PHEX). However, patients with X-linked hypophosphatemic rickets (XLH) have higher circulating FGF23 levels than healthy controls and these levels are higher in treated patients.\n\nManagement of XLH consists primarily of correcting the native vitamin D defect by prescribing active vitamin D analogs as well as phosphate supplementation to improve bone mineralization and decrease dental complications, growth, and bone deformities. Recently, a new therapeutic option has been developed for XLH, burosumab, a human monoclonal antibody that binds and inhibits FGF23 activity. The use of burosumab is currently authorized in France in some pediatric patients with severe forms of XLH.\n\nIndependently of the indirect bone effects of phosphate correction and vitamin D levels, the direct role of burosumab on bone cells has never been studied. The objective of this project is to study the osteoblastic biology of patients with RH compared to control patients, and to evaluate the direct impact of the treatments used in this pathology on human osteoblasts.",[26],"Craniosynostoses","RECRUITING","2026-04-15",{"date":30,"type":31},"2026-04-16","ACTUAL",{"date":33,"type":31},"2020-09-04",{"date":35,"type":22},"2029-04-04",{"name":37,"class":38},"Hospices Civils de Lyon","OTHER",1,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":45,"acronym":46,"eligibilityCriteria":47,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":48,"enrollmentInfo":49,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":51,"conditions":52,"keywords":4,"overallStatus":58,"whyStopped":4,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":62,"completionDateStruct":64,"leadSponsor":66,"locationsCount":39},"100634106","aso-treatment-for-syndromic-craniosynostoses-100634106","NCT07535372","ASO Treatment for Syndromic Craniosynostoses","Nano-ink Based Antisense oligonUcleoTIde deLivery for Ultra-personaIized Treatment of Syndromic Craniosynostoses","NAUTILUS","Inclusion Criteria:\n\n* Paediatric patients (0-5 years), with a confirmed genetic diagnosis of syndromic craniosynostosis involving pathogenic GoF or LoF variants in FGFR1-3, TWIST1, TCF12, EFNB1, ERF, MSX2, or ALX4.\n* Availability of cranial-suture tissue fragments obtained during surgical remodelling procedures and classified as surgical waste.\n* Signed informed consent from parents or legal guardians.\n\nExclusion Criteria:\n\n* Patients older than 5 years.\n* Patients aged 0-5 years with conditions unrelated to syndromic craniosynostosis in the selected genes.\n* Genetic variants of uncertain significance or undetermined molecular diagnosis.\n* Tissue samples with insufficient quantity or inadequate quality for cell isolation or culture.\n* Refusal of informed consent.","5 Years",{"count":50,"type":22},12,"Syndromic craniosynostoses (SCS) are rare genetic disorders defined by premature cranial suture fusion, resulting in abnormal craniofacial development and constrained brain growth. These conditions, including Muenke, Saethre-Chotzen, Crouzon, Apert, Pfeiffer and craniofrontonasal syndromes, are typically caused by gain- or loss-of-function variants in key regulators of suture biology such as FGFR1\u002F2\u002F3, TWIST1 and TCF12. Current management is exclusively surgical, relying on early cranial vault remodelling and subsequent reconstructive procedures, which carry substantial risks (e.g. blood loss, infection, re-synostosis) and do not address the underlying molecular etiology.\n\nRecent advances in RNA-based therapeutics have demonstrated the potential of mutation-specific approaches to normalize aberrant osteogenic differentiation in patient-derived cells. However, clinical translation remains limited by inefficient delivery and lack of sustained therapeutic activity. The NAUTILUS project aims to overcome these barriers by developing a non-invasive, ultra-personalized therapeutic platform based on mutation-specific antisense oligonucleotides (ASOs) delivered via a nano-engineered system.\n\nThe project will design and validate patient-tailored ASOs targeting the molecular drivers of SCS, with the goal of either silencing pathogenic gain-of-function alleles or restoring physiological expression in loss-of-function contexts. Functional efficacy will be assessed in patient-derived cellular models by evaluating transcript modulation and rescue of protein function. In parallel, NAUTILUS will optimize a nano-ink delivery platform combining PLGA-PEG-bis-sulfone nanoparticles with a GelMA-based hydrogel scaffold, enabling localized, controlled, and sustained ASO release within the cranial suture niche.\n\nPreclinical validation in relevant mouse models will assess the capacity of this platform to delay or prevent pathological suture ossification, ultimately reducing the need for repeated surgical interventions. By directly targeting the genetic basis of disease, NAUTILUS proposes a transformative approach to SCS management. This strategy has the potential to decrease treatment invasiveness, improve clinical outcomes, and enhance quality of life, establishing a precision medicine paradigm for rare craniofacial disorders.",[26,53,54,55,56,57],"Crouzon Syndrome","Saethre Chotzen Syndrome","Muenke Syndrome","Pfeiffer Syndrome","Apert Syndrome","NOT_YET_RECRUITING","2026-04-10",{"date":61,"type":31},"2026-04-17",{"date":63,"type":22},"2026-04-20",{"date":65,"type":22},"2028-04-20",{"name":67,"class":38},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS",{"id":69,"slug":70,"hasResults":11,"nctId":71,"briefTitle":72,"officialTitle":73,"acronym":74,"eligibilityCriteria":75,"healthyVolunteers":11,"sex":17,"minAge":76,"maxAge":77,"enrollmentInfo":78,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":80,"conditions":81,"keywords":85,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":88,"lastUpdatePostDateStruct":89,"startDateStruct":91,"completionDateStruct":93,"leadSponsor":95,"locationsCount":39},"100536303","hemodynamic-monitoring-during-craniosynostosis-surgery-comparing-traditional-and-newer-technology-monitors-crasy-pram-100536303","NCT06263075","Hemodynamic Monitoring During Craniosynostosis Surgery: Comparing Traditional and Newer Technology Monitors (CRASY-PRAM)","Evaluation of the Hemodynamic Variability During Craniosynostosis Surgery: a Comparison Between Traditional Hemodynamic Monitoring and Pressure Recording Analytic Method (CRASY-PRAM)","CRASY-PRAM","Inclusion Criteria:\n\n* Infants with craniosynostosis undergoing corrective surgery\n* Ages between 3 and 8 months\n* Physical status classification of the American Society of Anesthesiologists (ASA) \\\u003C\u002F= 2\n* Consent obtained from the patients' parents\u002Flegal guardians\n\nExclusion Criteria:\n\n* Congenital or acquired cardiac disease\n* Preoperative cardiac dysfunction\n* Metabolic diseases\n* Gestational age at birth \\\u003C30 weeks\n* Body weight less than 3 kg\n* Dislocation or malfunction of the arterial catheter\n* Malfunctioning of monitoring devices","3 Months","8 Months",{"count":79,"type":22},30,"Hemodynamic evaluation during pediatric anesthesia is essential to care management. Intraoperative cardiovascular instability is frequent in major surgeries, and appropriate monitoring is necessary to ensure safe anesthetic conduction and promptly detect changes in blood pressure, cardiac output, blood volume, and organ perfusion. In this context, advanced hemodynamic monitoring, continuous measuring, and estimating various parameters can allow a more specific hemodynamic profile and help identify the causal mechanisms of its variability. Moreover, the reference ranges of hemodynamic values in different pediatric ages and how to best monitor hemodynamic status in pediatrics are still debated.\n\nSurgical treatment of craniosynostosis is usually performed at an early age, between 3 and 8 months of age. The operation is burdened by a high risk of hemodynamic instability related mainly, but not only, to potential substantial hemorrhagic losses.\n\nThis study aims to characterize the hemodynamic events occurring during corrective craniosynostosis surgery, recorded simultaneously with standard monitoring and Pressure Recording Analytic Method (PRAM), and to analyze the paired measurements.",[26,82,83,84],"Hypovolemia","Hemorrhage","Hemodynamic Instability",[86,87],"Monitoring Physiologic","Monitoring Intraoperative","2025-09-30",{"date":90,"type":31},"2025-10-03",{"date":92,"type":31},"2023-12-13",{"date":94,"type":22},"2026-06",{"name":96,"class":38},"IRCCS Azienda Ospedaliero-Universitaria di Bologna",{"id":98,"slug":99,"hasResults":11,"nctId":100,"briefTitle":101,"officialTitle":102,"acronym":103,"eligibilityCriteria":104,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":105,"enrollmentInfo":106,"targetDuration":4,"studyType":108,"phases":109,"briefSummary":111,"conditions":112,"keywords":4,"overallStatus":58,"whyStopped":4,"lastUpdateSubmitDate":113,"lastUpdatePostDateStruct":114,"startDateStruct":116,"completionDateStruct":118,"leadSponsor":120,"locationsCount":4},"100544230","epbonf--evaluation-of-the-safety-and-effectiveness-of-a-medical-device-aimed-at-guiding-orbito-naso-frontal-band-surgery-for-the-treatment-of-craniostenoses-100544230","NCT06366178","EPBONF : Evaluation of the Safety and Effectiveness of a Medical Device Aimed at Guiding Orbito-naso-frontal Band Surgery, for the Treatment of Craniostenoses","Evaluation of the Safety and Effectiveness of a Medical Device Aimed at Guiding Orbito-naso-frontal Band Surgery, for the Treatment of Craniostenoses","EPBONF","Inclusion Criteria:\n\n* Children with anterior craniostenosis (organic trigonocephaly or anterior plagiocephaly), aged 4 to 24 months\n* Procedure performed at Besançon University Hospital\n* Written consent from both parents, or from one parent if there is only one, indicating that they have understood the purpose and procedures of the study, and that they agree to their child's participation in the study and to the study's requirements and restrictions.\n* Affiliation with a French social security scheme or beneficiary of such a scheme.\n* Pre-operative computed tomography scan and cone beam to measure the fronto zygomatic distance and naso-frontal angle in trigonocephaly, and to calculate the frontal process of the zygoma symmetry defect in organic anterior plagiocephaly.\n\nExclusion Criteria:\n\n* Legal incapacity or limited legal capacity of parent(s)\n* Subject is in the exclusion period of another study or is on the \"national volunteer list\".","24 Months",{"count":107,"type":22},5,"INTERVENTIONAL",[110],"NA","Craniostenosis is a congenital disorder caused by early fusion of the cranial sutures between the skull bones, resulting in orbito-naso-frontal deformities. The damage is primarily aesthetic, but intracranial hypertension may also be observed.\n\nThe treatment of craniostenosis involves surgery, to restore harmonious growth between the skull bones and the brain, and proper development of the latter.\n\nThere are various surgical techniques for correction, based on remodeling of the upper forehead and the orbito-naso-frontal band (BONF). However, BONF reshaping is difficult to tailor to each individual child. In most cases, the surgeon performs the reshaping \"freehand\", without a template. The result is therefore subject to the surgeon's experience and judgment.\n\nA surgical instrument (template) has been developed to guide the surgeon in the ideal reshaping of the BONF in patients with anterior craniostenosis (anterior plagiocephaly and trigonocephaly), according to each child's specific morphology.\n\nThe aim of EPBONF research is to evaluate the benefits of using this template on the symmetry and angle of the BONF.",[26],"2024-04-11",{"date":115,"type":31},"2024-04-15",{"date":117,"type":22},"2024-12-01",{"date":119,"type":22},"2026-12-01",{"name":121,"class":38},"Centre Hospitalier Universitaire de Besancon"]