3 completed, 3 recruiting, 1 active not recruiting, 1 not yet recruiting. 2 Not applicable, 1 Phase 1, 1 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 2 | Completed 1, Withdrawn 1 |
| Phase 1 | 1 | Recruiting 1 |
| Phase 2 | 1 | Recruiting 1 |
Follow Megalencephaly: new trials by email Literature Review of Megalencephaly trials Research Report on Megalencephaly
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Safety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME) SVG103 - Focal Cortical Dysplasia, Tuberous Sclerosis Complex (TSC) | Phase 1 / Phase 2 | Recruiting | Sovargen | 12 | 2026-07-14 | 2026-08-10 |
| Quantitative Assessment of the Etiologies of Megalencephaly Associated With a Detectable Tumor Risk Megalocephaly | Not yet recruiting | Assistance Publique - Hôpitaux de Paris | 200 | 2025-09-01 | 2025-08-27 | |
| National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) national registry - PIK3CA-related Overgrowth Spectrum, CLOVES Syndrome | Completed | Institut National de la Santé Et de la Recherche Médicale, France | 28 | 2023-02-21 | 2026-02-23 | |
| PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry PTEN Hamartoma Tumor Syndrome, Macrocephaly Autism Syndrome | Recruiting | Yale University | 100 | 2022-11-01 | 2026-08-31 | |
| North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Pre-visit prep, usual care + exome seq - Epilepsy; Seizure, Neuromuscular Diseases | Not applicable | Completed | University of North Carolina, Chapel Hill | 548 | 2018-09-28 | 2025-05-13 |
| Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery Intra-operative brain tonometry - Epilepsy, Focal Cortical Dysplasia | Not applicable | Withdrawn | University of California, Los Angeles | 2018-07-16 | 2023-10-10 | |
| Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF) - Drug-resistant Focal Epilepsies in Pediatric Population | Recruiting | Fondation Ophtalmologique Adolphe de Rothschild | 450 | 2015-12-17 | 2026-04-17 | |
| Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations PTEN, ASD | Active not recruiting | Boston Children's Hospital | 180 | 2015-05-01 | 2026-08-06 | |
| Genetics, Brain Structure and Thinking Skills in Autism Autism Spectrum Disorders | Completed | The Cleveland Clinic | 138 | 2010-05-01 | 2015-01-14 |
Autistic Disorder (3) · Focal Cortical Dysplasia (3) · Hemimegalencephaly (3) · Tuberous Sclerosis (3) · Autism Spectrum Disorder (2) · Encephalitis (2) · Epilepsy (2) · Hamartoma Syndrome, Multiple (2) · Brain Neoplasms (1) · Chromosome Aberrations (1) · Congenital Abnormalities (1) · Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (1) · Epilepsies, Partial (1) · Genetic Diseases, Inborn (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (9) · Craniofacial Abnormalities (9) · Malformations of Cortical Development (9) · Malformations of Cortical Development, Group I (9) · Musculoskeletal Abnormalities (9) · Musculoskeletal Diseases (9) · Nervous System Diseases (9) · Nervous System Malformations (9) · Congenital Abnormalities (8) · Genetic Diseases, Inborn (6) · Hamartoma (5) · Neoplasms (5) · Neoplasms, Multiple Primary (5) · Neoplastic Syndromes, Hereditary (5) · Child Development Disorders, Pervasive (4)
Assistance Publique - Hôpitaux de Paris (1) · Boston Children's Hospital (1) · Fondation Ophtalmologique Adolphe de Rothschild (1) · Institut National de la Santé Et de la Recherche Médicale, France (1) · Sovargen (1) · The Cleveland Clinic (1) · University of California, Los Angeles (1) · University of North Carolina, Chapel Hill (1) · Yale University (1)
United States (4) · France (3) · Australia (1) · Canada (1) · Turkey (Türkiye) (1)
Antonio Hardan, MD (1) · Aria Fallah, MD (1) · Charis Eng, M.D., Ph.D. (1) · Guillaume Canaud, MD,PHD (1) · Hande Kaymakcalan Celebiler, MD (1) · Jeannette T Bensen, Ph.D (1) · Jonathan S Berg, MD, PhD (1) · Thomas W Frazier, Ph.D. (1)
PMID 28431241, PMID 29899452, PMID 31444548, PMID 33407896, PMID 33434304, PMID 33509259, PMID 33834539, PMID 34127041, PMID 36307217, PMID 37324239, PMID 38710875, PMID 39315524, PMID 39460693, PMID 40307383
U01HG006487 (1), U54NS092090 (1), UL1RR024989 (1)