67 completed, 28 recruiting, 13 unknown, 12 active not recruiting. 42 Phase 2, 21 Phase 1, 20 Phase 3, 19 Not applicable, 6 Phase 4.
Follow Hamartoma: new trials by email Literature Review of Hamartoma trials Research Report on Hamartoma
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 |
|---|---|---|---|---|---|---|
| Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics Sturge-Weber Syndrome, Neurocutaneous Syndromes | Not yet recruiting | Assiut University | 100 | 2026-09-20 | 2026-09-28 | |
| Safety and Efficacy of AV078 in Participants With Tuberous Sclerosis Complex (TSC) Refractory Epilepsy (RESTOR-1) AV078, Placebo - Tuberous Sclerosis Complex, Epilepsy | Phase 2 | Not yet recruiting | Aeovian Pharmaceuticals, Inc. | 42 | 2026-09-01 | 2026-09-29 |
| Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations Everolimus blinded oral capsules, Placebo - Cowden's Disease, Cowden's Syndrome | Phase 2 / Phase 3 | Not yet recruiting | Boston Children's Hospital | 60 | 2026-09-01 | 2026-06-04 |
| 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 |
| Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE) Observational assessment - Periodontal Disease, Periodontitis | Recruiting | Stefan Lujinschi | 100 | 2026-05-04 | 2026-06-26 | |
| A Smart Phone Application to Improve Adoption of the 2024 Kidney Disease Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) Guidelines Use of an electronic digital Application - Chronic Kidney Disease, Proteinuria | Not applicable | Recruiting | St. James's Hospital, Ireland | 80 | 2026-01-14 | 2026-05-01 |
| Sapu003 in Advanced mTOR-sensitive Solid Tumors Sapu003, Exemestane 25 MG - Breast Cancer Metastatic, Renal Cell Carcinoma (RCC) | Phase 1 | Recruiting | SAPU NANO (US) LLC | 27 | 2025-12-15 | 2026-01-27 |
| TANDem-2: Closing the Gap to Interventions for TAND Well-Beans for Caregivers Program - Adult Caregivers of Individuals With TSC, Tuberous Sclerosis Complex (TSC) | Not applicable | Enrolling by invitation | Vrije Universiteit Brussel | 30 | 2025-07-15 | 2025-09-22 |
| Phase 1, Open-label, Drug-drug Interaction Study to Assess Effect Between Radiprodil and the Co-administered Drugs. Radiprodil + co-administered drugs - Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia | Phase 1 | Completed | GRIN Therapeutics, Inc. | 18 | 2025-05-20 | 2025-11-18 |
| Study to Evaluate the Pharmacokinetics and Safety Effects Following Coadministration of Carbamazepine or Itraconazole With Radiprodil in Healthy Adults Radiprodil with Carbamazepine, Radiprodil with Itraconazole - Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia | Phase 1 | Terminated | GRIN Therapeutics, Inc. | 30 | 2025-05-08 | 2025-11-21 |
| Epidyolex® in Lennox Gastaut, Dravet Syndrome and Tuberous Sclerosis Complex: an Observational Study in ITALY Epidiolex 100 mg/mL Oral Solution - Lennox Gastaut Syndrome, Dravet Syndrome | Active not recruiting | Jazz Pharmaceuticals | 111 | 2025-02-24 | 2026-06-03 | |
| Long-term Safety of Nipple Sparing Mastectomy in Women With High Penetrance Breast Cancer Susceptibility Genes in Breast Cancer Nipple Sparing Mastectomy (NSM), Skin-Sparing Mastectomy (SSM), Total (Simple) Mastectomy - Breast Cancer Surgery | Recruiting | Sir Mortimer B. Davis - Jewish General Hospital | 4700 | 2025-02-01 | 2026-08-18 | |
| Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders Sertraline, Placebo - Neurodevelopmental Disorders, Autism | Phase 2 | Recruiting | Holland Bloorview Kids Rehabilitation Hospital | 130 | 2024-09-16 | 2026-07-27 |
| Exploration and Evaluation of Amygdalo-Hippocampectomy According to Prof. Coubes' Technique: An Anatomical, Clinical, and Educational Approach Amygdalo-Hippocampectomy - Hippocampal Sclerosis, Dysembryoplastic Neuroepithelial Tumor | Recruiting | University Hospital, Montpellier | 3504 | 2024-08-31 | 2025-04-08 | |
| Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants PTEN Hamartoma Syndrome | Recruiting | Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta | 50 | 2024-08-01 | 2026-02-12 | |
| Astroscape: A Study of Radiprodil on Safety, Tolerability, Pharmacokinetics, and Effect on Seizures and Behavioral Symptoms in Patients With TSC or FCD Type II Radiprodil - Tuberous Sclerosis Complex, Focal Cortical Dysplasia | Phase 1 / Phase 2 | Active not recruiting | GRIN Therapeutics, Inc. | 30 | 2024-07-10 | 2026-04-01 |
| Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations Sirolimus, Placebo - PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome | Phase 1 / Phase 2 | Withdrawn | Stanford University | 2024-07-01 | 2024-07-10 | |
| Treatment With Full-spectrum Cannabis Extract of Refractory Epilepsy Associated With Tuberous Sclerosis Complex (TSC) YCJ-01 Full Spectrum cannbis Extract, Placebo - Tuberous Sclerosis Complex (TSC) | Phase 3 | Recruiting | Oils4Cure | 84 | 2024-06-01 | 2026-02-11 |
| Video Capsule Examination in Patients With Lynch Syndrome Video capsule investigation - Lynch Syndrome, Li Fraumeni Syndrome | Not applicable | Recruiting | Royal Marsden NHS Foundation Trust | 25 | 2024-03-04 | 2024-12-05 |
| Reproductive Options in Inherited Skin Diseases Ichthyosis, Palmoplantar Keratoses | Enrolling by invitation | Maastricht University Medical Center | 650 | 2024-01-01 | 2025-05-18 |
Showing 20 of 141. Sign in to see all of them.
Tuberous Sclerosis (114) · Epilepsy (22) · Hamartoma Syndrome, Multiple (21) · Lymphangioleiomyomatosis (16) · Seizures (14) · Autistic Disorder (13) · Epilepsies, Myoclonic (8) · Lennox Gastaut Syndrome (8) · Angiomyolipoma (7) · Focal Cortical Dysplasia (7) · Hereditary Sensory and Autonomic Neuropathies (6) · Li-Fraumeni Syndrome (6) · Angiofibroma (5) · Astrocytoma (5) · Colorectal Neoplasms, Hereditary Nonpolyposis (5)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (139) · Neoplasms (137) · Neoplasms, Multiple Primary (137) · Genetic Diseases, Inborn (133) · Neoplastic Syndromes, Hereditary (131) · Congenital Abnormalities (123) · Nervous System Diseases (122) · Nervous System Malformations (119) · Malformations of Cortical Development, Group I (117) · Heredodegenerative Disorders, Nervous System (116) · Neurodegenerative Diseases (116) · Malformations of Cortical Development (114) · Neurocutaneous Syndromes (111) · Neoplasms by Histologic Type (42)
Everolimus (20) · Sirolimus (18) · Cannabidiol (6) · Activator Appliances (3) · Miransertib (3) · Vigabatrin (3) · ganaxolone (3) · radiprodil (3) · Melatonin (2) · dactolisib (2) · 2-chloro-4-(1-(4-fluorophenyl)-2,5-dimethyl-1H-imidazol-4-ylethynyl)pyridine (1) · 8-(6-methoxypyridin-3-yl)-3-methyl-1-(4-piperazin-1-yl-3-trifluoromethylphenyl)-1,3-dihydroimidazo(4,5-c)quinolin-2-one (1) · Acceptance and Commitment Therapy (1) · Actigraphy (1) · Anticonvulsants (1)
Novartis Pharmaceuticals (8) · Children's Hospital Medical Center, Cincinnati (7) · Jazz Pharmaceuticals (6) · Boston Children's Hospital (5) · National Heart, Lung, and Blood Institute (NHLBI) (5) · National Human Genome Research Institute (NHGRI) (5) · University of California, Los Angeles (5) · Beijing Children's Hospital (3) · GRIN Therapeutics, Inc. (3) · Longboard Pharmaceuticals (3) · Marinus Pharmaceuticals (3) · Nobelpharma (3) · Cardiff University (2) · Dana-Farber Cancer Institute (2) · Erasmus Medical Center (2)
United States (79) · United Kingdom (20) · Australia (18) · Canada (15) · Spain (15) · France (14) · Italy (13) · Netherlands (13) · Poland (11) · China (9) · Belgium (7) · Germany (6) · Japan (6) · Israel (4) · Turkey (Türkiye) (4)
Leslie G Biesecker, M.D. (4) · Darcy Krueger, MD, PhD (3) · Joel Moss, M.D. (3) · Mustafa Sahin, MD, PhD (3) · Anna Jansen, MD, PhD (2) · Antoni Gostynski, MD, PhD (2) · Antonio Hardan, MD (2) · Dennis J Dlugos, MD (2) · Hope Northrup, MD (2) · John Bissler, MD (2) · Martina Bebin, MD, MPA (2) · Mary Kay Koenig, MD (2) · Alessandra Pereira,, PhD, MD (1) · Alessandro Flavio Ferri (1)
PMID 29023494, PMID 30053159, PMID 30291925, PMID 31912454, PMID 34649967, PMID 34957550, PMID 38996393, PMID 18184959, PMID 19141364, PMID 20458532, PMID 21047224, PMID 21482669, PMID 21525172, PMID 21915260, PMID 22113127, PMID 22262746, PMID 22934754, PMID 23158522, PMID 23325902, PMID 23344409, PMID 23437092, PMID 23732715, PMID 23733802, PMID 23798472, PMID 24729041, PMID 25456370, PMID 25682485, PMID 26156073, PMID 26381530, PMID 26858193, PMID 27222591, PMID 27351628, PMID 29096777, PMID 29572283, PMID 29797247, PMID 29800026, PMID 29800048, PMID 30192751, PMID 30424962, PMID 30803705, PMID 31217257, PMID 31237569, PMID 31350329, PMID 31444548, PMID 31969108, PMID 31982581, PMID 32385845, PMID 33346789, PMID 33407896, PMID 33434304
U54NS092090 (3), 2015 (2), 2018 (2), 2023 (2), 2008 (1), 2025 (1), P30CA006516 (1), R01CA107164 (1), R01HD090138 (1), R21CA103486 (1), U01NS082320 (1), U01NS092595 (1)