View clinical trials related to Tuberous Sclerosis.
Filter by:The aim of the study is to assess the improvement of health in patients affected by CKD when they are exposed to non-pharmacological treatment strategies as nutritional program (NP), physical activity program (PA) and mindfulness program (MP), when they are conveyed to the patient by means of digital technologies or not. In the present study, non-pharmacological interventions conveyed by a digital technology (investigational arm) will be compared to a standard, paper-based approach (control arm).
The purpose of this prospective study is to assess the safety and efficacy of everolimus in Taiwanese patients with renal angiomyolipoma (AML) associated with tuberous sclerosis complex (TSC) . Only patients who fulfil the local reimbursement criteria of everolimus for TSC-AML will be included in this study.
Tuberous sclerosis complex (TSC), affecting 1 in 6.000 live births, is characterized by the development of multisystem tumors. Seizures are frequent up to 80% of individuals. They usually start in infancy and are often drug resistant, with a high risk of intellectual disability and autism spectrum disorders. In animal models, preventive treatment before seizures onset significantly decreased the risk of epilepsy as well as associated comorbidities. EPISTOP randomized clinical trial (RCT) aimed to validate the effect of preventive therapy in patients with TSC diagnosed before clinical seizures with abnormal EEG, versus late standard therapy of epilepsy, administered after the seizures onset. This preventive therapy resulted in a significant better outcome in seizures and co-morbidities. However, this trial included few patients and did not allow to fully explore the secondary endpoints. Our goal within EPISTOP-IDEAL project is to benefit from joining clinical expertise of EPISTOP project and experts from IDEAL EU project on methodologies for CTs in small populations in order to consolidate the results of EPISTOP CT using uncertainty evaluation of the existing data of randomized and observational arms and adding important information from external data collected after EPISTOP ended. This collaboration aims to an optimal use of all available data (RCT, observational and external data collected with the same protocol). The goal is to demonstrate the added value of these methodologies in TSC CT and to their further use to rare epilepsies, and other rare diseases.
The aim of this pilot study is to explore whether the knowledge and experience gained during the T-GaiD project (Treatment of Gait Disorders in Dravet Syndrome - NCT03857451) can be transferred to other populations with similar problems, i.e. motor and gait problems as a result of a genetic disorder characterized by epilepsy and developmental delay. In this pilot study, 40 people with Tuberous Sclerosis Complex and 30 people with STXBP1 will be recruited via the Antwerp University Hospital and invited for a gait analysis in the M²OCEAN movement lab. The aim of the pilot study is to evaluate the feasibility of the 3D gait analysis protocol and to determine the sensitivity of the primary (summative measure of the severity of gait abnormalities) and the secondary (spatio-temporal and kinematic gait parameters) outcome measures.
This trial is a Phase II randomized, double-blind, placebo controlled multi-site study to evaluate the safety and efficacy of early sirolimus to prevent or delay seizure onset in TSC infants. This study is supported by research funding from the Office of Orphan Products Division (OOPD) of the US Food and Drug Administration (FDA).
The study intends to show that basimglurant provides effective seizure control in children, adolescents and young adults with Tuberous Sclerosis Complex (TSC).
The purpose of the study is to evaluate the efficacy, tolerability, and safety of vigabatrin versus rapamycin as a preventive treatment in infants with Tuberous Sclerosis Complex (TSC).
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 syndrome (DS).
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes. Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines. The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including: 1. comorbidities 2. medical and their impact on quality of life 3. medication use 4. the need for adaption of medication dose according to each syndrome Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.
Prospective controlled studies to identify clinical epilepsy control, cognitive changes, and safety in VNS treatment of tuberculosis-related epilepsy.