megalencephaly
megalencephaly
Explore linked clinical trials. Standard reference: MONDO:00166085 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Craniofacial Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, PTEN hamartoma tumor syndrome, autism, autism spectrum disorder, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, macrocephaly-autism syndrome, megalencephaly, musculoskeletal system disorder, neoplasm, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorder | Recruiting | Not stated | 2026-08-31 | NCT06462430 | |
| Safety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME) | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Focal Cortical Dysplasia, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hemimegalencephaly, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, megalencephaly, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis | Recruiting | Phase 1 / Phase 2 | 2026-08-10 | NCT07287202 | |
| Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Craniofacial Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, PTEN hamartoma tumor syndrome, atrial septal defect, autism, autism spectrum disorder, central nervous system malformation, cerebral cortical dysplasia, hamartoma, hereditary disease, hereditary neoplastic syndrome, megalencephaly, musculoskeletal system disorder, neoplasm, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorder | Active, not recruiting | Not stated | 2026-08-06 | NCT02461446 | |
| Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Focal Cortical Dysplasia, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Neuroinflammatory Diseases, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, congenital hypothalamic hamartoma syndrome, encephalitis, epilepsy, focal epilepsy, hamartoma, hemimegalencephaly, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, megalencephaly, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, tuberous sclerosis | Recruiting | Not stated | 2026-04-17 | NCT02890641 | |
| Quantitative Assessment of the Etiologies of Megalencephaly Associated With a Detectable Tumor Risk | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, central nervous system malformation, cerebral cortical dysplasia, megalencephaly, musculoskeletal system disorder, neoplasm, nervous system disorder | Not yet recruiting | Not stated | 2025-08-27 | NCT07142772 |