Clinical trials: Cortical Development Malformation
Microcephaly
Microcephaly Genetic Deficiency in Neural Progenitors
The purpose of this study is to: I. Compare neuroradiological phenotype and cognitive functioning of MCPH patients caused by ASPM mutations already characterized and published (Passemard et al.
- Trial name
- MICROFANC (NCT01565005)
- Where
- France
- Volunteers
- 98 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Tuberous Sclerosis Complex
Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy
This is a Phase 3, global, double-blind, randomized, placebo-controlled study of adjunctive GNX treatment in children and adults with TSC-related epilepsy.
- Trial name
- NCT05323734
- Testing
- Ganaxolone
- Where
- 63 sites in United States, Australia and 8 more
- Volunteers
- 129 people
- Sponsor
- Marinus Pharmaceuticals
Lymphangioleiomyomatosis, Tuberous Sclerosis Complex
Safety of Simvastatin in LAM and TSC
The purpose of this research study is to see if simvastatin can be taken safely in patients with either LAM or TSC, who are already being treated with everolimus or sirolimus.
- Trial name
- SOS (NCT02061397)
- Testing
- Simvastatin, Sirolimus Oral Product, Everolimus Oral Product
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of Pennsylvania
Renal Angiomyolipomas, Tuberous Sclerosis
Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers
Treatment of angiomyolipomas is based on invasive techniques such as surgery or embolization. Development of anti-angiogenic therapies is a major and growing field of research in hypervascularized tumors.
- Trial name
- STBETA (NCT02104011)
- Testing
- Propranolol
- Where
- France
- Volunteers
- 2 people
- Sponsor
- University Hospital, Bordeaux
Tuberous Sclerosis Complex (TSC)
Observational, Retrospective, Multicenter, Nonprofit Study on the Prevalence of Renal Involvement in Pediatric Patients With Tuberous Sclerosis
Observational, retrospective, multicenter, nonprofit study on the prevalence of renal involvement in pediatric patients with tuberous sclerosis.
- Trial name
- NCT06764602
- Where
- Italy
- Volunteers
- 80 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Lymphangioleiomyomas, Tuberous Sclerosis
Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women
This study will examine the effect of fasting on lymphangioleiomyomas abdominal tumors formed from enlarged lymph nodes containing lymphatic fluid.
- Conditions
- Lymphangioleiomyomas, Tuberous Sclerosis, Lymphangioleiomyomatosis
- Trial name
- NCT00552955
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Epilepsy, Tuberous Sclerosis Complex
Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC)
The goal of this study is to learn if the study drug RAD001 can reduced the number of epileptic seizures, and can be taken safety by people who have epilepsy associated with Tuberous Sclerosis Complex.
- Trial name
- NCT01070316
- Testing
- Everolimus
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Tuberous Sclerosis Complex
Basimglurant (NOE-101) in Children, Adolescents, and Young Adults With TSC
The study intends to show that basimglurant (NOE-101) provides effective seizure control in children, adolescents and young adults with Tuberous Sclerosis Complex (TSC).
- Trial name
- NCT05059327
- Where
- 27 sites in United States, India and 6 more
- Volunteers
- 61 people
- Sponsor
- Noema Pharma AG
Tuberous Sclerosis Complex
Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex
Study design is a Phase IIb prospective multi-center, randomized, placebo-controlled, double-blind clinical trial. The goal will be to enroll 80 infants with Tuberous Sclerosis Complex who are less than 6 months of age prior to…
- Trial name
- NCT02849457
- Testing
- Early Vigabatrin
- Where
- 13 sites in United States
- Volunteers
- 84 people
- Sponsor
- Martina Bebin
Lung Disease, Pneumothorax
Study of the Disease Process of Lymphangioleiomyomatosis
Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor.
- Conditions
- Lung Disease, Pneumothorax, Tuberous Sclerosis, Lymphangioleiomyomatosis
- Trial name
- NCT00001465
- Testing
- Toshibia Aquilion One CT
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Tuberous Sclerosis Complex
Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC)
Tuberous Sclerosis Complex (TSC) is a multi-system disease, usually presenting with seizures, mental retardation and autism, and exhibiting a high variability in clinical findings both among and within families.
- Trial name
- TSC (NCT01289912)
- Testing
- RAD001
- Where
- 2 sites in United States
- Volunteers
- 52 people
- Sponsor
- Mustafa Sahin
Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs.
- Conditions
- Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract, Neuroendocrine Neoplasm of Lung, Thymic Neuroendocrine Neoplasm
- Trial name
- NCT06523582
- Where
- 3 sites in Mexico
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- Universidad Nacional Autonoma de Mexico
Tuberous Sclerosis, Neurofibromatoses
Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1)
This study is a prospective, randomized, double-blind, placebo-controlled evaluation of the safety of a topically applied formulation of rapamycin to cutaneous fibromatous lesions in subjects with Tuberous Sclerosis Complex (TSC)…
- Conditions
- Tuberous Sclerosis, Neurofibromatoses, Angiofibroma, Neurofibroma
- Trial name
- NCT01031901
- Testing
- Skincerity, Skincerity plus sirolimus/rapamycin, Skinercity plus sirolimus/rapamycin
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston
Tuberous Sclerosis Complex
Studies in Patients With Tuberous Sclerosis Complex
This study is aimed to carry out a systematic study to examine the effects of genetic variants (genetic modifiers) other than TSC genes on phenotypic variability in familial TSC patients (affected parent, child and unaffected…
- Trial name
- NCT03276195
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Translational Genomics Research Institute
Sturge-Weber Syndrome, Neurocutaneous Syndromes
Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics
This cross-sectional study aims to determine the prevalence, clinical characteristics, and management patterns of neurocutaneous syndromes among children attending the Pediatric Neurology Unit at Assiut University.
- Conditions
- Sturge-Weber Syndrome, Neurocutaneous Syndromes, Neurofibromatoses, Tuberous Sclerosis
- Trial name
- NCT07843823
- Volunteers
- 100 people
- Sponsor
- Assiut University
Leiomyomatosis
Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM)
Pulmonary lymphoangioleiomyomatosis (LAM) is a rare destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor.
- Trial name
- NCT00001869
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
TSC, Tuberous Sclerosis Complex
Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex
The primary objective of clinical part of EPISTOP project is to identify the clinical and molecular biomarkers of epileptogenesis in a prospective clinical study of patients with TSC.
- Conditions
- TSC, Tuberous Sclerosis Complex, Epilepsy
- Trial name
- EPISTOP (NCT02098759)
- Testing
- epilepsy early diagnosis protocol
- Where
- 9 sites in Austria, Belgium and 6 more
- Volunteers
- 100 people
- Sponsor
- Sergiusz Jozwiak
Angelman Syndrome, Nervous System Diseases
Dietary Supplements for the Treatment of Angelman Syndrome
Angelman syndrome (AS) is a complex genetic disorder that affects the nervous system. The purpose of this study is to determine the effectiveness of certain dietary supplements in treating the symptoms of AS.
- Trial name
- NCT00348933
- Testing
- Betaine, Creatine, Metafolin
- Where
- 4 sites in United States
- Volunteers
- 90 people
- Sponsor
- University of California, San Diego
Sleep Disorder
Characterizing Sleep Disorders in Children and Adults With Tuberous Sclerosis Complex (TSC)
The proposed research project is aimed at further characterization of sleep problems and evaluation of their impact in children and adults with TSC, excluding epilepsy as contributing factor.
- Trial name
- NCT03326765
- Testing
- Questionnaires, electroencephalogram (EEG), polysomnography
- Where
- Belgium
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Universitair Ziekenhuis Brussel
Seizure in Participants With Tuberous Sclerosis Complex, Seizure in Participants With Dravet Syndrome
Assessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) in Children With Tuberous Sclerosis Complex (TSC), Dravet Syndrome (DS), or Lennox-Gastaut Syndrome (LGS) Who Experience Inadequately-controlled Seizures
This study will be conducted to evaluate the safety, pharmacokinetics (PK), and efficacy of adjunctive GWP42003-P in participants < 2 years of age with tuberous sclerosis complex (TSC), Lennox-Gastaut syndrome (LGS), or Dravet…
- Conditions
- Seizure in Participants With Tuberous Sclerosis Complex, Seizure in Participants With Dravet Syndrome, Seizure in Participants With Lennox-Gastaut Syndrome
- Trial name
- NCT04485104
- Testing
- GWP42003-P
- Where
- 11 sites in United States, Italy and 1 more
- Volunteers
- 3 people
- Sponsor
- Jazz Pharmaceuticals