[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Cook Children's Health Care System\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":239},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,8,0,[8,50,77,104,135,158,188,218],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":30,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":44,"leadSponsor":46,"locationsCount":49},"100636543","repetitive-transcranial-magnetic-stimulation-on-motor-function-and-meta-plasticity-in-cerebral-palsy-tms-eeg-study-100636543",false,"NCT07567053","Repetitive Transcranial Magnetic Stimulation on Motor Function and Meta-Plasticity in Cerebral Palsy: TMS-EEG Study","6-Hz Primed Low and High-Frequency Repetitive Transcranial Magnetic Stimulation on Motor Function and Meta-Plasticity in Children With Cerebral Palsy: TMS-EEG Study","Inclusion Criteria (CP):\n\n* Aged 6 - 20 years,\n* A confirmed diagnosis of CP by a specialized professional (pediatric neurologist, PM\\&R physician, neonatal developmental specialist, or neonatologist) is a prerequisite for participation,\n* Classified as high functioning (Level I, II, or III) according to the Gross Motor Function Classification System (GMFCS),\n* Age-appropriate ability to understand and comply with study procedure throughout the entire duration of the study,\n* Preserved vision and hearing (with or without correction).\n\nInclusion Criteria (TD):\n\n* Aged 6 - 20 years\n* Age-appropriate ability to understand and comply with study procedure throughout the entire duration of the study,\n* Preserved vision and hearing (with or without correction).\n\nExclusion Criteria (CP):\n\n* Syndromic or genetic brain-related associations,\n* History of major trauma or brain surgery,\n* Inability to remain still,\n* History of Epilepsy,\n* Severe coexisting sickness or illness unrelated to CP or unstable medical conditions such as pneumonia,\n* Modified Ashworth Scale: Shoulder, elbow, and wrist scores more than 3,\n* Limb contractures caused by any other injury except CP,\n* Severe movement disorders that prevent intentional limb movements, such as choreoathetosis, or ballismus,\n* Contraindications for rTMS include non-removable metallic objects close to a coil and implanted electronic devices, such as cochlear implants and pacemakers.\n\nExclusion Criteria (TD):\n\n* Syndromic or genetic brain-related associations,\n* History of major trauma or brain surgery,\n* Inability to remain still,\n* History of Epilepsy,\n* Severe coexisting sickness or illness unrelated to CP or unstable medical conditions such as pneumonia,\n* Limb contractures caused by injury,\n* Severe movement disorders that prevent intentional limb movements, such as choreoathetosis, or ballismus,\n* Contraindications for rTMS include non-removable metallic objects close to a coil and implanted electronic devices, such as cochlear implants and pacemakers.",true,"ALL","6 Years","20 Years",{"count":21,"type":22},60,"ESTIMATED","INTERVENTIONAL",[25],"NA","This project examines the use of repetitive transcranial magnetic stimulation (rTMS) as a therapeutic approach to improve motor function in children with cerebral palsy (CP). By applying 6-Hz primed low and high-frequency rTMS and measuring brain responses through TMS-EEG, the study aims to enhance neural plasticity and motor recovery. The goal is to promote faster rehabilitation and reduce long-term healthcare needs.",[28,29],"Cerebral Palsy","Typically Developing Children",[28,31,32,33,34,35,36],"CP","TMS","repetitive Transcranial Magnetic Stimulation","Transcranial Magnetic Stimulation","rTMS","TMS-EEG","NOT_YET_RECRUITING","2026-05-12",{"date":40,"type":41},"2026-05-14","ACTUAL",{"date":43,"type":22},"2026-05-01",{"date":45,"type":22},"2030-06-01",{"name":47,"class":48},"Cook Children's Health Care System","OTHER",1,{"id":51,"slug":52,"hasResults":11,"nctId":53,"briefTitle":54,"officialTitle":55,"acronym":4,"eligibilityCriteria":56,"healthyVolunteers":11,"sex":17,"minAge":57,"maxAge":58,"enrollmentInfo":59,"targetDuration":4,"studyType":23,"phases":61,"briefSummary":63,"conditions":64,"keywords":67,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":43,"lastUpdatePostDateStruct":70,"startDateStruct":72,"completionDateStruct":74,"leadSponsor":76,"locationsCount":49},"100623238","phase-2-effect-of-ipratropium-bromide-on-eilo-100623238","NCT07394036","Effect of Ipratropium Bromide on EILO","The Effect of Ipratropium Bromide on Exercise-Induced Laryngeal Obstruction (EILO) in Pediatric Patients","Inclusion Criteria:\n\n* Patients must be diagnosed with EILO confirmed by Continuous Laryngoscopy During Exercise\n* Patients must be able to complete exercise testing\n* Patients must report dyspnea\n* Patients must have given assent with parental consent, understand all study procedures, and comply with them for the entire length of the study.\n\nExclusion Criteria:\n\n* Patients that do not have EILO.\n* Patients who did not undergo diagnostic CPET with CLE.\n* Patients with hypersensitivity to atropine or its derivatives due to structural similarity with ipratropium bromide.\n* Patients with a history of atrial flutter and\u002For fibrillation\n* Patients taking anticholinergic medications that cannot be paused for 24 hours.\n* Unable to perform exercise tests\n* Current drug or alcohol use or dependence that, in the opinion of the site investigator, would interfere with adherence to study requirements.\n* Inability or unwillingness of patient or parent\u002Flegally authorized representative to give written informed consent.","8 Years","17 Years",{"count":60,"type":22},50,[62],"PHASE2","The investigators propose a study that compares breathlessness and airway obstruction during intense exercise in 34 children and adolescents with Exercise-Induced Laryngeal Obstruction after breathing in ipratropium bromide or placebo. It is hypothesized that breathlessness and airway obstruction will be lower following breathing in ipratropium bromide compared with placebo.",[65,66],"Exercise-Induced Laryngeal Obstruction","Dyspnea During Activity",[65,68,69],"Shortness of Breath during Exercise","Ipratropium Bromide",{"date":71,"type":41},"2026-05-05",{"date":73,"type":22},"2026-06-01",{"date":75,"type":22},"2029-12-31",{"name":47,"class":48},{"id":78,"slug":79,"hasResults":11,"nctId":80,"briefTitle":81,"officialTitle":81,"acronym":4,"eligibilityCriteria":82,"healthyVolunteers":11,"sex":17,"minAge":83,"maxAge":84,"enrollmentInfo":85,"targetDuration":4,"studyType":23,"phases":87,"briefSummary":88,"conditions":89,"keywords":91,"overallStatus":95,"whyStopped":4,"lastUpdateSubmitDate":96,"lastUpdatePostDateStruct":97,"startDateStruct":99,"completionDateStruct":101,"leadSponsor":103,"locationsCount":49},"100560868","phase-2-targeted-approach-to-langerhans-cell-histiocytosis-lch-using-mek-inhibitor-trametinib-100560868","NCT06582745","Targeted Approach to Langerhans Cell Histiocytosis (LCH) Using MEK Inhibitor, Trametinib","Inclusion Criteria:\n\n* Diagnosis\u002Fdisease status:\n\n  * Patients with newly diagnosed Langerhans cell histiocytosis (LCH) OR\n  * Patients with relapsed or refractory disease OR\n  * Patients with newly diagnosed or relapsed\u002Frefractory disease who are receiving the liquid formula of trametinib OR\n  * Patients who have been receiving trametinib as a treatment for LCH since January 1, 2020 may be included in the observational chart review to track long-term follow-up. Eligibility for chart review cohort will include receiving trametinib as treatment.\n* Diagnosis confirmed with biopsy prior to start of treatment\n* Patient must have adequate cardiac function evident through Echocardiogram (ECHO) and Electrocardiogram (EKG) within 30 days of starting treatment.\n\n  * Shortening fraction of ≥ 27% by echocardiogram or\n  * Ejection fraction of ≥ 50% by gated radionuclide study\n  * QTC \\\u003C 480 msec\n* Performance status: Patients must have a performance status corresponding to ECOG scores of 0, 1, or 2. Use Karnofsky ≥ 50% for patients \\> 16 years of age and Lansky ≥50% for patients ≤16 years of age.\n* Adequate organ and marrow function as defined below:\n\n  * Absolute Neutrophil count ≥ 1,500\u002FμL\n  * Platelets ≥ 100x103\u002FμL\n  * Total bilirubin ≤ 1.5X ULN for age\n  * AST\u002FALT ≤ 2.5 X ULN for age\n  * Serum creatinine based on age\u002Fgender\n  * Hemoglobin ≥ 8 g\u002FdL\n\n    * Patients with bone marrow disease must have hemoglobin ≥ 8 g\u002FdL with transfusion support allowed\n* Women of childbearing potential and men must agree to use adequate contraception (hormonal or barrier method of birth control; abstinence) prior to study entry, for the duration of study participation, and for 4 months after the last dose. Should a woman become pregnant or suspect she is pregnant while participating in this study, she should inform her treating physician immediately.\n* Ability to understand study procedures and to comply with them for the entire length of the study.\n\nExclusion Criteria:\n\n* Patients diagnosed with Low-Risk True Skin Only or a Single Bone lesion that does not require treatment and will only be observed will not be eligible, with the exception of CNS-risk lesions\u002Fspecial site disease or functionally critical lesions:\n\n  * CNS-risk\u002Fspecial site includes: Sphenoid, Mastoid, Orbital, zygomatic, ethmoid, maxillary, or temporal bones, the cranial fossa, pituitary gland or neurodegenerative disease, odontoid peg, vertebral lesion with intraspinal soft tissue extension\n  * Functionally critical: A single lesion not described above which may cause \"functionally critical anatomic abnormality\" wherein attempts at local therapy would cause unacceptable morbidity. This can be at the discretion of the Principal Investigator.\n* Patients whose genetic testing reveals a class 3 MAP2K1 mutation:\n\n  * I103\\_K104del\n  * E102\\_I103del\n  * L98\\_K104delinsQ\n  * L98\\_I103del\n  * I99\\_K104del\n* Patients who present with jaundice at diagnosis.\n* Patients who are pregnant or breastfeeding are not eligible. Women of childbearing potential must receive a negative pregnancy test within 14 days of starting treatment or the patient will not be eligible.\n\n  * Patients who are allergic to trametinib\n  * Current drug or alcohol use or dependence that, in the opinion of the site investigator, would interfere with adherence to study requirements.\n* Inability or unwillingness of patient or parent\u002Flegally authorized representative to give written informed consent.","1 Year","30 Years",{"count":86,"type":22},75,[62],"The purpose of this Phase II clinical trial is to establish the safety and effectiveness of trametinib, a targeted therapy, for the treatment of newly or recently diagnosed Langerhans Cell Histiocytosis (LCH) among pediatric patients.",[90],"Langerhans Cell Histiocytosis",[92,93,94],"LCH","MEK inhibitor","Targeted therapy","RECRUITING","2026-04-01",{"date":98,"type":41},"2026-04-07",{"date":100,"type":41},"2024-06-24",{"date":102,"type":22},"2039-12",{"name":47,"class":48},{"id":105,"slug":106,"hasResults":11,"nctId":107,"briefTitle":108,"officialTitle":109,"acronym":4,"eligibilityCriteria":110,"healthyVolunteers":11,"sex":17,"minAge":111,"maxAge":112,"enrollmentInfo":113,"targetDuration":4,"studyType":23,"phases":115,"briefSummary":116,"conditions":117,"keywords":121,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":126,"lastUpdatePostDateStruct":127,"startDateStruct":129,"completionDateStruct":131,"leadSponsor":133,"locationsCount":134},"100602316","ex-vivo-confocal-imaging-and-proteomic-profiling-to-determine-treatment-response-in-children-with-ibd-100602316","NCT07121920","Ex-vivo Confocal Imaging and Proteomic Profiling to Determine Treatment Response in Children With IBD","A Prospective Study Evaluating Ex-vivo Confocal Imaging of Fluorescent Tagged Monoclonal Antibodies and Proteomic Profiles of Biopsied Tissue to Predict Therapeutic Response Among Children and Adolescents With Inflammatory Bowel Disease","Inclusion Criteria:\n\n\\- Patients must fall into one of the below categories: (i) with suspected and\u002For established diagnosis of IBD (ii) patients with IBD on treatment with biologics irrespective of treatment response (iii) patients who are diagnosed with IBD but treatment naïve to biologics. (iv) patients diagnosed with IBS and previous endoscopy results were negative for IBD who will serve as controls\n\nExclusion Criteria:\n\n* Those with previous allergy to fluorescein\n* Pregnant and breastfeeding patients","2 Years","21 Years",{"count":114,"type":22},40,[25],"This study aims to test the overall hypothesis that the membrane tissue binding capacity of cytokines in the biopsied tissue of patients with Inflammatory Bowel Disease (IBD) is predictive of\u002Fstrongly correlated to clinical response\u002Foutcomes observed.\n\nThe key questions under investigation are:\n\nAim 1: To assess the fluorescent signal intensity at baseline (control antibody with control biopsy and control antibody with IBD biopsy).\n\nAim 2: To characterize the cellular landscape by surveying surface markers using bar-coded antibodies and performing gene expression profiling on every cell within inflamed tissue of patients with IBD.\n\nAim 3: Develop algorithm using artificial intelligence to predict responders versus non-responders and to further subclassify IBD patients using phenotype data.",[118,119,120],"IBD (Inflammatory Bowel Disease)","IBD","IBD - Inflammatory Bowel Disease",[122,123,119,124,125],"Ex-vivo","Inflammatory bowel disease","CLE","Confocal laser endomicroscopy","2025-08-12",{"date":128,"type":41},"2025-08-14",{"date":130,"type":22},"2025-09-01",{"date":132,"type":22},"2028-07-01",{"name":47,"class":48},2,{"id":136,"slug":137,"hasResults":11,"nctId":138,"briefTitle":139,"officialTitle":140,"acronym":4,"eligibilityCriteria":141,"healthyVolunteers":11,"sex":17,"minAge":111,"maxAge":142,"enrollmentInfo":143,"targetDuration":4,"studyType":23,"phases":145,"briefSummary":146,"conditions":147,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":150,"lastUpdatePostDateStruct":151,"startDateStruct":153,"completionDateStruct":155,"leadSponsor":157,"locationsCount":4},"100577018","endomicroscopic-evaluation-of-food-induced-gastrointestinal-mucosal-alteration-100577018","NCT06792838","Endomicroscopic Evaluation of Food-induced Gastrointestinal Mucosal Alteration","A Multicenter Ambispective Evaluation of Atypical Food Allergies In-vivo Utilizing Confocal Laser Endomicroscopy in Pediatric and Adult Patients","Inclusion Criteria:\n\nPatients must meet all of the following criteria to be included in the study\n\n* Adults and children presenting with a prolonged history of IBS-like symptoms (as described by Rome IV criteria) related to food intake.\n* A negative or very low\u002Flow levels of Ig-E food allergy panel or negative skin prick test\n* Negative celiac disease work up\n\nExclusion Criteria:\n\n* If patient had a previous Esophagogastroduodenoscopy (EGD) and Colonoscopy with biopsy positive for any chronic inflammatory condition for eg. Inflammatory Bowel Disease (IBD), the patient will be excluded.\n* Pregnant or nursing at the time of CLE.\n* Known allergy to fluorescein.\n* Impaired renal function tests.\n* Active GI bleeding.","99 Years",{"count":144,"type":22},200,[25],"The overarching goal of this study is to establish a first ever registry in the U.S. to collect outcomes data to evaluate changes in the gastrointestinal (GI) mucosa following direct food application utilizing Confocal Laser Endomicroscopy (CLE). This will be assessed in pediatric and adult patients who present to the outpatient clinic with persistent irritable bowel syndrome-like symptoms while testing negative for celiac disease and have either negative or very low\u002Flow levels of Immunoglobulin E (IgE) serological tests.",[148,149],"Irritable Bowel Syndrome","Food Allergy","2025-02-21",{"date":152,"type":41},"2025-02-24",{"date":154,"type":22},"2025-03",{"date":156,"type":22},"2034-09",{"name":47,"class":48},{"id":159,"slug":160,"hasResults":11,"nctId":161,"briefTitle":162,"officialTitle":163,"acronym":4,"eligibilityCriteria":164,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":165,"enrollmentInfo":166,"targetDuration":4,"studyType":23,"phases":168,"briefSummary":170,"conditions":171,"keywords":174,"overallStatus":95,"whyStopped":4,"lastUpdateSubmitDate":180,"lastUpdatePostDateStruct":181,"startDateStruct":183,"completionDateStruct":185,"leadSponsor":187,"locationsCount":49},"100210840","phase-1-fluorodopa-f-18-in-congenital-hyperinsulinism-and-insulinoma-100210840","NCT02021604","Fluorodopa F 18 in Congenital Hyperinsulinism and Insulinoma","The Use of Fluorodopa F 18 Positron Emission Tomography Combined With Computed Tomography in Congenital Hyperinsulinism and Insulinoma","Inclusion Criteria:\n\n* Patients with HI attending the Cook Children's Congenital Hyperinsulinism Center and being treated by an Endocrinologist which may be the PI or a partner of this clinician.\n* The patient's Endocrinologist has determined that the patient cannot be safely managed with standard medical therapy (failed) and surgery is recommended to prevent future episodes of severe hypoglycemia and preserve brain function. Failure of medical therapy is defined as both:\n\n  * Hypoglycemia (blood glucose \\\u003C70 m\u002FdL) on a single measure despite the use of anti-hypoglycemic medications, if applicable to the individual patient, including and limited to diazoxide or octreotide\n  * Inability to fast, defined as the inability to maintain a blood glucose \\>50 mg\u002FdL for: 1) more than 12 hours for infants \\\u003C 1 year of age; 2) more than 15 hours 1-3 years of age; 3) more than 18 hours over 3 years of age\n* Patients in whom the genetic testing (if available and informative) does not prove diffuse HI disease. Such children might be considered if they have one or more of the following situations:\n\n  * no genetic testing results (e.g., due to insurance denial or parental refusal)\n  * negative genetic testing (note: only 75% of mutations may be found with existing technology)\n  * no autosomal recessive mutations in ABCC8 or KCNJ11 on the maternal allele\n  * no autosomal dominant mutations in ABCC8 or KCNJ11\n* Patients thought to have focal HI disease based on genetic testing or insulinoma based on clinical evaluation and have well-controlled blood glucose levels with any degree of dietary or medical management, BUT the patient and their parent(s) or LAR wishes to proceed with surgery for a possible cure of HI disease.\n\nExclusion Criteria:\n\n* Patients who do not have a diagnosis of HI\n* Patients with genetic evidence of diffuse HI\n* Patients who are pregnant\n* Nursing mothers who are unwilling to discontinue breastfeeding their infant for 48 hours after Fluorodopa F 18 injection\n* Patients with a known allergy to Fluorodopa F 18 agent","18 Years",{"count":167,"type":22},250,[169],"PHASE1","Low blood sugars are known to cause brain damage in newborn babies. One of the most common causes of low blood sugars persisting beyond the new born period is a condition called congenital hyperinsulinism (HI). This is a disease whereby the pancreas secretes too much insulin and causes low blood sugars. Twenty to forty percent of these babies will have brain damage. There are two forms of this disease. In one form only a small part of the pancreas makes too much insulin (focal HI) and in the other, the whole pancreas make too much insulin (diffuse HI). Another very similar disease is insulinoma which occurs after birth, but also causes hyperinsulinism. If a surgeon could know which part of the pancreas has the focal lesion he could remove it and cure the patient.\n\nThe purpose of this study is to investigate whether a new investigational drug called Fluorodopa F 18, when used with a PET scan, can find the focal lesion and guide the surgeon to remove it, thus curing the patient and preventing further brain damage.",[172,173],"Congenital Hyperinsulinism","Insulinoma",[172,175,176,177,178,179,173],"HI","Hypoglycemia","FDOPA","18F-DOPA","Hyperinsulinism","2024-07-15",{"date":182,"type":41},"2024-07-16",{"date":184,"type":41},"2013-10-09",{"date":186,"type":22},"2028-06",{"name":47,"class":48},{"id":189,"slug":190,"hasResults":11,"nctId":191,"briefTitle":192,"officialTitle":193,"acronym":4,"eligibilityCriteria":194,"healthyVolunteers":11,"sex":17,"minAge":195,"maxAge":196,"enrollmentInfo":197,"targetDuration":4,"studyType":23,"phases":199,"briefSummary":200,"conditions":201,"keywords":205,"overallStatus":95,"whyStopped":4,"lastUpdateSubmitDate":210,"lastUpdatePostDateStruct":211,"startDateStruct":213,"completionDateStruct":215,"leadSponsor":217,"locationsCount":49},"100548681","massage-therapy-after-thoracic-or-lumbar-surgery-100548681","NCT06424158","Massage Therapy After Thoracic or Lumbar Surgery","The Impact of Massage Therapy on Post-Surgical Pain, Anxiety, Quality of Life, and Opioid Analgesia Exposure on Children After Thoracic or Lumbar Surgery","Inclusion Criteria:\n\n* Patients scheduled to undergo their first thoracic or lumbar spinal fusion surgery\n* Able to participate and perform in a massage therapy as a recovery option\n* Participant needs to be verbal\n* Ability to understand study procedures and to comply with them for the entire length of the study\n\nExclusion Criteria:\n\n* Prospective patients scheduled to undergo any spinal fusion other than a thoracic or lumbar spinal fusion surgery.\n* Prospective patients scheduled to undergo a second or multiple thoracic or lumbar spinal fusion surgery\n* Previous cardiac surgery\n* Chronic pain syndromes\n* Chronic opioid usage\n* History of psychosis\n* Prolonged bleeding\n* Intubation greater than 24 hours\n* Illicit\u002Frecreation drug use\n* Paralysis diagnosis\n* History of chronic pain requiring medical intervention\n* Neuromuscular scoliosis diagnosis\n* Cerebral palsy diagnosis\n* Developmental delay characteristics","7 Years","19 Years",{"count":198,"type":22},100,[25],"The purpose of this research is to look at the effect of massage therapy on the pain, anxiety, and quality of life that pediatric patients have after undergoing spinal fusion surgery. This is a single-site, prospective, randomized, interventional study design that will involve post-thoracic and post-lumbar spinal fusion surgeries of pediatric patients from 7 to 19 years of age that present to Cook Children's Medical Center in Fort Worth, Texas. These patients will be identified prior to their scheduled spinal fusion surgery and recruited to enroll in the study. The planned spinal fusion surgeries are not considered part of this research project, but rather considered standard of care and would occur whether the patient is enrolled in this project or not. Enrolled participants will be followed during their inpatient stay and through their subsequent follow-up visits at weeks 2, 6, and 12. Participants will be randomly assigned to either a massage therapy group or a group that receives the standard (normal) care for recovery after surgery. The final study involvement will occur at week 16 (post-hospital discharge) where a study team member will administer a quality of life (PedsQL) questionnaire via phone or mail with the subject. Data will be collected after study related procedures are completed.",[202,203,204],"Scoliosis; Adolescence","Adolescent Idiopathic Scoliosis, Thoracic Region","Adolescent Idiopathic Scoliosis, Lumbar Region",[206,207,208,209],"Spinal Fusion","Massage Therapy","Pain Management","Scoliosis","2024-05-22",{"date":212,"type":41},"2024-05-23",{"date":214,"type":41},"2021-02-17",{"date":216,"type":22},"2026-08-01",{"name":47,"class":48},{"id":219,"slug":220,"hasResults":11,"nctId":221,"briefTitle":222,"officialTitle":223,"acronym":4,"eligibilityCriteria":224,"healthyVolunteers":16,"sex":17,"minAge":4,"maxAge":165,"enrollmentInfo":225,"targetDuration":4,"studyType":227,"phases":4,"briefSummary":228,"conditions":229,"keywords":4,"overallStatus":95,"whyStopped":4,"lastUpdateSubmitDate":231,"lastUpdatePostDateStruct":232,"startDateStruct":234,"completionDateStruct":236,"leadSponsor":238,"locationsCount":49},"100489291","gaba-biomarkers-in-dravet-syndrome-100489291","NCT05651204","GABA Biomarkers in Dravet Syndrome","Electrophysiological Biomarkers of GABA Metabolism in Children With SCN1A+ Dravet Syndrome","Inclusion Criteria:\n\n1. Authorized representative (parent\u002Fcaregiver) must be willing and able to give informed consent for the participant's participation in the study. Participants capable of providing informed assent must be willing to provide their assent.\n2. Participant and their parent\u002Fcaregiver are willing and able (in the PI's opinion) to comply with all study requirements.\n3. Participant is male or female aged between 0 months and 18 years of age, inclusive, at the time of consent.\n4. Participant has a confirmed pathogenic or likely pathogenic SCN1A mutation, as demonstrated by genetic testing.\n5. Participant had normal development prior to onset of first seizure as defined by the Centers for Disease Control and Prevention (CDC 2019).\n6. Participant had an onset of seizures, defined as first focal clonic\u002Fhemiclonic, generalized\u002Ffocal, generalized tonic-clonic\u002Fclonic, atonic, prolonged seizure, or status epilepticus between age 3 and 5 months, inclusive.\n7. Participant should have an evaluation by a pediatric neurologist with a diagnosis of DS.\n\nExclusion Criteria:\n\n1. Participant has a copy number variant of SCN1A, including SCN1A microdeletion, affecting other genes.\n2. Participant has an SCN1A mutation present on both alleles.\n3. Participant has a known pathogenic or clinically suspected mutation in a seizure-associated gene besides SCN1A.\n4. Participant has a confirmed mutation in a gene besides SCN1A, that is known to increase the severity of the seizure phenotype.\n5. Participant has a known gain-of-function mutation, as defined by functional studies, including p.Thr226Met.\n6. Participant has a history of notable developmental deficit that was evident prior to seizure onset, by physician report.\n7. Participant has a known central nervous system structural abnormality as found on magnetic resonance imaging or computed tomography scan of brain which, in the opinion of the Principal Investigator (PI), is not consistent with the clinical phenotype of DS. Note: Prior scans may be used, and no new scan is required to confirm normal imaging.\n8. Metal implants.\n9. Baclofen pump.\n10. Inability or unwillingness of patient or parent\u002Flegally authorized representative to give written informed consent (and\u002For assent as appropriate).",{"count":226,"type":22},36,"OBSERVATIONAL","This study will non-invasively obtain levels of GABA in the brain of children with SCN1A+DS and neurodeveloping children through evoked and induced cortical responses, correlate them with the BOLD responses, and with the levels of GABA in their blood.",[230],"Dravet Syndrome","2022-12-13",{"date":233,"type":41},"2022-12-14",{"date":235,"type":41},"2022-09-08",{"date":237,"type":22},"2027-09-08",{"name":47,"class":48},""]