Open-label Study of Adjunctive GNX Treatment in Children and Adults With TSC-related Epilepsy
Tuberous Sclerosis ComplexThis is a Phase 3, global, open-label extension (OLE) study of adjunctive GNX treatment in children and adults with TSC who previously participated in either Study 1042-TSC-3001 or Study 1042-TSC-2001
Efficacy and Safety of Rapamycin Versus Vigabatrin in the Prevention of Tuberous Sclerosis Complex...
Tuberous Sclerosis ComplexThe 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).
Parent-Infant Inter(X)Action Intervention (PIXI)
Fragile X SyndromeAngelman Syndrome12 moreThe objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of neurogenetic disorders that leave individuals at risk for developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental delays. Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of life and their parents/caregivers. The intervention, called Parent-infant Inter(X)action Intervention (PIXI) is a comprehensive program inclusive of parent education about early infant development and the neurogenetic disorder for which they were diagnosed, direct parent coaching around parent-child interaction, and family/parent well-being support. The protocol includes repeated comprehensive assessments of family and child functioning, along with an examination of feasibility and acceptability of the program.
KidneYou - Innovative Digital Therapy
Chronic Kidney DiseasesDiabetes11 moreThe 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).
Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory...
Tuberous Sclerosis ComplexThe purpose of this study is to evaluate the long-term safety in patients with TSC and refractory seizures who are currently receiving everolimus treatment in the Novartis-sponsored EXIST-3 study and who are determined to be benefiting from continued treatment as judged by the investigator at the completion of EXIST-3
Clinical Study of NPC-12Y Gel in Patients With Skin Lesions Associated With TSC
Tuberous Sclerosis ComplexThe purpose of this study is to investigate the efficacy and safety of NPC-12Y gel compared with placebo for skin lesions associated with tuberous sclerosis.
The Effectiveness and Safety of Resective Epilepsy Surgery for TRE
Tuberous Sclerosis ComplexEpilepsyProspective controlled studies to identify clinical epilepsy control, cognitive changes, and safety in resective epilepsy surgery of tuberculosis-related epilepsy.
Study of the Disease Process of Lymphangioleiomyomatosis
Lung DiseasePneumothorax2 morePulmonary 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. This study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy. Researchers intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals.
The Effectiveness and Safety of Vagus Nerve Stimulation for TRE
Tuberous Sclerosis ComplexEpilepsyProspective controlled studies to identify clinical epilepsy control, cognitive changes, and safety in VNS treatment of tuberculosis-related epilepsy.
Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental...
Neurodevelopmental DisordersAutism25 moreThere are currently no approved medications for the treatment of anxiety in children and youth with neurodevelopmental disorders (NDDs), both common and rare. Sertraline, a selective serotonin reuptake inhibitor, has extensive evidence to support its use in children's and youth with anxiety but not within NDDs. More research is needed to confirm whether or not sertraline could help improve anxiety in children and youth with common and rare neurodevelopmental conditions. This is a pilot study, in which we plan to estimate the effect size of reduction in anxiety of sertraline vs. placebo. across rare and common neurodevelopmental disorders, and determine the best measure(s) to be used as a primary transdiagnostic outcome measure of anxiety, as well as diagnosis specific measures in future, larger-scale clinical trials of anxiety in NDDs.