[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"hypogonadisms\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:hypogonadisms":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,49],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":31,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100517564","mehmo-natural-history-and-biomarkers-100517564",false,"NCT06019182","MEHMO Natural History and Biomarkers","Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions","* INCLUSION CRITERIA:\n\nTo be eligible to participate in this study, an individual must meet the following criteria:\n\nBe \\>= 1-week of age if affected, or \\>=1-month of age if unaffected.\n\nFor Screening:\n\n1. Have a combination of signs\u002Fsymptoms suggestive of MEHMO syndrome,\n\n   AND\n\n   no or inconclusive molecular testing.\n\n   OR\n2. Be a relative of an individual with MEHMO syndrome\u002FeIF2-related condition and whose genetic may be informative for research.\n\nFor Main Study:\n\n1. Have a combination of signs\u002Fsymptoms suggestive of MEHMO syndrome,\n\n   AND\n\n   disease-associated variant(s) or variant(s) of uncertain significance in one of the eIF2-pathway related genes\n\n   OR\n2. Be a relative of an individual with MEHMO syndrome\u002FeIF2-related condition, AND a carrier of the pathogenic or likely pathogenic variant.\n\n   OR\n3. Be a non-affected, non-carrier family member of an individual with MEHMO syndrome or an eIF2-pathway related condition.\n\nEXCLUSION CRITERIA:\n\nAny individual who, in the opinion of the Investigators, is unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation will be excluded from participation in this study.","ALL","1 Week","100 Years",{"count":20,"type":21},150,"ESTIMATED","OBSERVATIONAL","This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism\u002FHypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have symptoms such as intellectual delay, seizures, abnormal hormone and blood sugar levels, and decreased motor skills.\n\nNo current treatment for these conditions is available. A major impediment to the testing of potential therapeutic interventions is the lack of well-defined outcome measures. This protocol seeks to identify biochemical and clinical markers to monitor disease progression, and better understand the natural history of these conditions.\n\nAny person diagnosed with MEHMO syndrome or related conditions, who can travel to the NIH Clinical Center can participate in this study.\n\nThe study involves:\n\n* General health assessment and evaluation\n* Imaging studies\n* Laboratory tests\n* Collection of blood, urine, spinal fluid, skin biopsy.",[25,26,27,28,29,30],"Intellectual Disability","Epilepsy","Hypogonadisms","Microcephaly","Nervous System Malformations","Obesity",[32,33,34,35],"MEHMO","X-linked MEHMO Syndrome","eIF2-Pathway Related Conditions","EIF2S3","RECRUITING","2026-06-24",{"date":39,"type":40},"2026-06-25","ACTUAL",{"date":42,"type":40},"2023-10-23",{"date":44,"type":21},"2053-09-01",{"name":46,"class":47},"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","NIH",1,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":4,"eligibilityCriteria":55,"healthyVolunteers":11,"sex":16,"minAge":56,"maxAge":57,"enrollmentInfo":58,"targetDuration":4,"studyType":60,"phases":61,"briefSummary":63,"conditions":64,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":73,"lastUpdatePostDateStruct":74,"startDateStruct":76,"completionDateStruct":78,"leadSponsor":80,"locationsCount":48},"100624680","rems25-study-on-the-use-of-rems-technology-in-diseases-commonly-associated-with-reduced-bone-mineral-density-bmd-100624680","NCT07412782","REMS25: Study on the Use of REMS Technology in Diseases Commonly Associated With Reduced Bone Mineral Density (BMD)","Observational Study for the Assessment of Bone Mineral Density (BMD) Using REMS Technology","Inclusion Criteria:\n\n* Written informed consent from adult patients or parents\u002Flegal guardians\n* Age between 5 and 18 years\n* Both sexes and all ethnicities\n* Known condition negatively affecting bone health\n\nExclusion Criteria:\n\n\\- Age below 5 years or over 18 years","5 Years","18 Years",{"count":59,"type":21},100,"INTERVENTIONAL",[62],"NA","This study evaluates bone mineral density (BMD) in pediatric patients aged 5-18 years with conditions negatively affecting bone health, using REMS (Radiofrequency Echographic Multi Spectrometry), a non-invasive and radiation-free ultrasound technology. Bone health is crucial during childhood, when peak bone mass develops, and reduced BMD is associated with increased fracture risk. DXA is the current reference method but has limitations in children, including radiation exposure and growth-related measurement issues. REMS has been validated in adults and shows promise in pediatrics, despite the lack of reference values. The study is a single-center, national, non-profit interventional study lasting about 12 months. Participants will undergo REMS BMD measurement, clinical history collection, and assessment of anthropometric and pubertal parameters, with prior DXA data collected when available. The primary aim is to describe BMD values measured by REMS in pediatric osteoporosis, with secondary aims including subgroup analyses and comparison with DXA. A sample of 100 patients is planned. Statistical analyses will assess BMD distributions, correlations with clinical variables, and agreement between REMS and DXA using correlation coefficients and Bland-Altman analysis.",[65,66,27,67,68,69,70,71,72],"Osteogenesis Imperfecta","Osteoporosis","Neoplasia","Obesity & Overweight","Malnutrition (Calorie)","Hypercortisolism","Growth Hormone Deficiency (GHD)","Osteopenia","2026-02-13",{"date":75,"type":40},"2026-02-17",{"date":77,"type":40},"2025-12-04",{"date":79,"type":21},"2026-12-31",{"name":81,"class":82},"Meyer Children's Hospital IRCCS","OTHER"]