Not applicableStudy completedNCT01451983What this trial is testingGenetics, Brain Structure and Thinking Skills in AutismWho this might be right forAutism Spectrum Disorders The Cleveland Clinic 138
Testing effectiveness (Phase 2)Looking for participantsNCT05577754What this trial is testingAssessment of the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-CApillary Malformation Polymicrogyria Syndrome (MCAP)Who this might be right forMegalencephaly-capillary Malformation Polymicrogyria Syndrome (MCAP) Centre Hospitalier Universitaire Dijon 20
Testing effectiveness (Phase 2)Looking for participantsNCT06789913What this trial is testingMutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA MutationWho this might be right forPIK3CA-Related Overgrowth Spectrum (PROS)Lymphatic MalformationsVascular Malformations+4 more Relay Therapeutics, Inc. 277
Not applicableStudy completedNCT04343560What this trial is testingMACS and Healthy Volunteers Bone StudyWho this might be right forMACS Syndrome Mayo Clinic 380
Not applicableNot Yet RecruitingNCT07142772What this trial is testingQuantitative Assessment of the Etiologies of Megalencephaly Associated With a Detectable Tumor RiskWho this might be right forMegalocephaly Assistance Publique - Hôpitaux de Paris 200
Not applicableStudy completedNCT03548779What this trial is testingNorth Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2Who this might be right forEpilepsy; SeizureNeuromuscular DiseasesBrain Malformation+14 more University of North Carolina, Chapel Hill 548
Not applicableLooking for participantsNCT02461446What this trial is testingNatural History Study of Individuals With Autism and Germline Heterozygous PTEN MutationsWho this might be right forPTENASDAutism+2 more Boston Children's Hospital 170
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07287202What this trial is testingSafety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME)Who this might be right forFocal Cortical DysplasiaTuberous Sclerosis Complex (TSC)Hemimegalencephaly Sovargen 15
Not applicableLooking for participantsNCT05563831What this trial is testingNational Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)Who this might be right forPIK3CA-related Overgrowth SpectrumCLOVES SyndromeKlippel Trenaunay Syndrome+6 more Institut National de la Santé Et de la Recherche Médicale, France 2,500
Not applicableLooking for participantsNCT06462430What this trial is testingPTEN Hamartoma Tumor Syndrome Pediatric Patient RegistryWho this might be right forPTEN Hamartoma Tumor SyndromeMacrocephaly Autism Syndrome Yale University 100
Not applicableWithdrawnNCT04344626What this trial is testingUse of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy SurgeryWho this might be right forEpilepsyFocal Cortical DysplasiaTuberous Sclerosis+7 more University of California, Los Angeles
Not applicableLooking for participantsNCT02890641What this trial is testingGenetic and Electrophysiologic Study in Focal Drug-resistant EpilepsiesWho this might be right forRefractory Focal EpilepsyFocal Cortical DysplasiaHemimegalencephaly+2 more Fondation Ophtalmologique Adolphe de Rothschild 450