[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"microcephaly\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:microcephaly":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,49,77],{"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":53,"acronym":4,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":16,"minAge":55,"maxAge":56,"enrollmentInfo":57,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":59,"conditions":60,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":67,"lastUpdatePostDateStruct":68,"startDateStruct":70,"completionDateStruct":72,"leadSponsor":74,"locationsCount":48},"100310789","the-fbri-vtc-neuromotor-research-clinic-100310789","NCT03325946","The FBRI VTC Neuromotor Research Clinic","Inclusion Criteria:\n\n* Neuromotor Impairment\n\nExclusion Criteria:\n\n* fragile health","3 Months","18 Years",{"count":58,"type":21},500,"The FBRI VTC Neuromotor Research Clinic was established and opened in May of 2013 to provide intensive therapeutic services to individuals with motor impairment secondary to neuromotor disorders. It is direct by Dr. Stephanie DeLuca and based on the principles surrounding ACQUIREc Therapy.\n\nACQUIREc Therapy is an evidenced-based approach to pediatric constraint-induced movement therapy, which refers to a multi-component form of therapy that is focused on helping children who have asymmetric motor abilities between the two sides of the body. Historically, ACQUIREc Therapy has the unimpaired or less impaired upper extremity constrained (by a cast or a splint) while also receiving active therapy from a specially trained therapist who shapes new skills and functional activities with the child's more impaired upper extremity but who is also a licensed Occupational or Physical Therapist (OT\u002FPT). Therapy dosages are high much higher than tradition OT or PT - often lasting many hours per day, up to 6 hours a day, 5 days a week, for 2-4 weeks.\n\nInvestigators have developed further treatments based on the same principles of intensive services combined with behavior shaping for other areas of the body that are also affected by weakness (e.g., the leg and trunk) also, but which usually do not involve constraint. These have been more generally labeled ACQUIRE Therapy.\n\nAll forms involve intensive, play-based therapy for children with asymmetric motor impairments of the arms and hands. The primary focus of treatment is to facilitate the acquisition of new motor skills in the child's weaker body parts through high levels of intensive therapy using scientifically-based behavioral guidelines. Therapy is also delivered in naturalistic environments.\n\nACQUIREc Therapy as a treatment method has been tested in two randomized controlled trials, and a specific manual for its implementation has been developed. Dr. (s) Ramey and DeLuca previously founded a similar clinic, The Pediatric Neuromotor Research Clinic, at the University of Alabama at Birmingham where Dr. DeLuca directed the research clinic for 13 years and oversaw the implementation of the ACQUIREc Therapy treatment protocol in more than 400 cases.\n\nThis research will involve analyzing and interpreting the clinical data of children going through clinical procedures at the FBRI VTC Neuromotor Research Clinic. All participation is voluntary and no children will denied services if families choose not to participate.",[61,62,28,63,64,65,66],"Neuromotor Impairments","Cerebral Palsy","Autism","Trauma, Brain","Acquired Brain Injury","Pediatric Stroke","2026-01-16",{"date":69,"type":40},"2026-01-21",{"date":71,"type":40},"2013-01-01",{"date":73,"type":21},"2029-12-31",{"name":75,"class":76},"Virginia Polytechnic Institute and State University","OTHER",{"id":78,"slug":79,"hasResults":11,"nctId":80,"briefTitle":81,"officialTitle":82,"acronym":4,"eligibilityCriteria":83,"healthyVolunteers":11,"sex":16,"minAge":84,"maxAge":85,"enrollmentInfo":86,"targetDuration":4,"studyType":88,"phases":89,"briefSummary":92,"conditions":93,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":102,"completionDateStruct":104,"leadSponsor":106,"locationsCount":48},"100479069","phase-1-melpida-recombinant-adeno-associated-virus-serotype-9-encoding-a-codon-optimized-human-ap4m1-transgene-hap4m1opt-100479069","NCT05518188","Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)","A Phase 1\u002F2 Open-label Intrathecal Administration of MELPIDA to Determine Its Safety and Efficacy for Patients with Spastic Paraplegia Type 50 (SPG50) Caused by Mutation in the AP4M1 Gene.","Inclusion Criteria:\n\n1. Age 4 months-10 years old\n2. Confirmed diagnosis of SPG50 disease by:\n\n   1. Genomic DNA mutation analysis demonstrating homozygous or compound heterozygous, confirmed pathogenic variants in the AP4M1 gene\n   2. Clinical history or examination features consistent with SPG50 and that include neurologic dysfunction\n3. Parent\u002Flegal guardian willing to provide written informed consent for their child prior to participation in the study\n4. Subject able to comply with all protocol requirements and procedures\n5. Ability to stand for more than 5 seconds OR\n6. Ability to take 5 steps independently or with a walker OR\n7. Modified Ashworth Scale score 2 or below (Ankles).\n\nExclusion Criteria:\n\n1. Inability to participate in study procedures (as determined by the site investigator)\n2. Presence of a concomitant medical condition that precludes lumbar puncture (LP) or use of anesthetics\n3. History of bleeding disorder or any other medical condition or circumstance in which lumbar puncture is contraindicated according to local institutional policy\n4. Inability to be safely sedated in the opinion of the clinical anesthesiologist\n5. Active infection, at the time of dosing, based on clinical observations\n6. Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer\n7. Inability of the patient to undergo MRI according to local institutional policy\n8. Inability of the patient to undergo any other procedure required in this study\n9. The presence of significant non-SPG50 related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study\n10. Have received an investigational drug within 30 days prior to screening or plan to receive an investigational drug (other than gene therapy) during the study.\n11. Enrollment and participation in another interventional clinical trial\n12. Contraindication to MELPIDA or any of its ingredients\n13. Contraindication to any of the immune suppression medications used in this study\n14. Clinically significant abnormal laboratory values (GGT, ALT, and AST, or total bilirubin \\> 3 × ULN, creatinine ≥ 1.5 mg\u002FdL, hemoglobin \\[Hgb\\] \\< 6 or \\> 20 g\u002FdL; white blood cell \\[WBC\\] \\> 20,000 per cmm) prior to gene replacement therapy.","4 Months","10 Years",{"count":87,"type":21},4,"INTERVENTIONAL",[90,91],"PHASE1","PHASE2","MELPIDA is proposed for the treatment of subjects with SPG50 and targets neuronal cells to deliver a fully functional human AP4M1 cDNA copy via intrathecal injection to counter the associated neuronal loss. Outcomes will evaluate the safety and tolerability of a single dose of MELPIDA, which will be measured by the treatment-associated adverse events (AEs) and serious adverse events (SAEs). Secondarily, the trial will explore efficacy in terms of disease burden assessments.",[94,28,95,96,97,98],"Spasticity, Muscle","Intellectual Deficiency","Growth Retardation","SPG50","Spastic Paraplegia","2024-10-04",{"date":101,"type":40},"2024-10-08",{"date":103,"type":40},"2023-02-15",{"date":105,"type":21},"2030-10-01",{"name":107,"class":108},"Elpida Therapeutics SPC","INDUSTRY"]