[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"saethre-chotzen-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:saethre-chotzen-syndrome":73},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,44],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":4,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":43},"100634106","aso-treatment-for-syndromic-craniosynostoses-100634106",false,"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.","ALL","5 Years",{"count":20,"type":21},12,"ESTIMATED","OBSERVATIONAL","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.",[25,26,27,28,29,30],"Craniosynostoses","Crouzon Syndrome","Saethre Chotzen Syndrome","Muenke Syndrome","Pfeiffer Syndrome","Apert Syndrome","NOT_YET_RECRUITING","2026-04-10",{"date":34,"type":35},"2026-04-17","ACTUAL",{"date":37,"type":21},"2026-04-20",{"date":39,"type":21},"2028-04-20",{"name":41,"class":42},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS","OTHER",1,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":50,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":17,"minAge":52,"maxAge":4,"enrollmentInfo":53,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":55,"conditions":56,"keywords":4,"overallStatus":90,"whyStopped":4,"lastUpdateSubmitDate":91,"lastUpdatePostDateStruct":92,"startDateStruct":94,"completionDateStruct":96,"leadSponsor":98,"locationsCount":43},"100398068","growing-up-with-rare-genetic-syndromes-100398068","NCT04463316","GROWing Up With Rare GENEtic Syndromes","GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age","GROW UR GENES","Inclusion Criteria:\n\n* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.\n\nExclusion Criteria:\n\n* None","18 Years",{"count":54,"type":21},600,"Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.\n\nIncreased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.\n\nMedical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.\n\nThe aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:\n\n1. comorbidities\n2. medical and their impact on quality of life\n3. medication use\n4. the need for adaption of medication dose according to each syndrome\n\nMethods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.",[57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89],"Prader-Willi Syndrome","PWS-like Syndrome","Silver Russel Syndrome","Congenital Hypopituitarism","Klinefelter (XXY-)Syndrome","Congenital Adrenal Hyperplasia","XXXXY Syndrome","XXYY Syndrome","XXXX Syndrome (Tetra-X Syndrome)","Disorders of Sex Development","Turner Syndrome","46, XY DSD","Tuberous Sclerosis","Neurofibromatosis","Albright Hereditaire Osteodystrofie","Cornelia de Lange Syndrome","Saethre-Chotzen Syndrome","17p- Deletiesyndrome","VCF Syndrome","POLR3A Mutatie","Ohdo Syndrome","Jacobsen Syndrome \u002F 11 q Syndrome","Myrhe Syndrome","CHARGE Syndrome","1q25-32 Deletie","Bardet Biedl Syndrome","Rett Syndrome","22q11 Deletion Syndrome","Allan-Herndon-Dudley Syndrome","Kallmann Syndrome","Rare Bone Disorders","Noonan Syndrome","Williams-Beuren Syndrome","RECRUITING","2023-09-04",{"date":93,"type":35},"2023-09-06",{"date":95,"type":35},"2018-10-01",{"date":97,"type":21},"2030-01-01",{"name":99,"class":42},"dr. Laura C. G. de Graaff-Herder"]