View clinical trials related to Rett Syndrome.
Filter by:Using a tele-research approach, we will recruit, enroll, guide and support carers and participants to engage in computer based activities (modified virtual reality) with the primary outcome of reducing stereotypies and increasing independent arm and hand use and secondary outcome of improving quality of living. Because of our virtual approach, we are able to recruit from multiple countries and all states and territories of the USA.
The Rett Global Registry is a fully remote, global, caregiver-reported registry to collect information about caring for a loved one with Rett syndrome. In addition, caregivers have the ability to track and graph their loved one's symptoms and care strategies over time, store information for central access, and opt-in to complete medical record consolidation and summary. Qualified researchers and therapeutic developers may request access to de-identified aggregate information to further Rett research, or assist with clinical development planning to facilitate and expedite more effective clinical trials.
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.
This study will recruit families with a daughter with Rett syndrome living in either Australia, Denmark or Israel, and thereafter deliver individually designed participation programs using telehealth strategies. We will evaluate the effectiveness of the programs on reducing sedentary behaviours, increasing physical activity and increasing quality of life.
Pediatric movement disorders comprise of a large number of different neurological diseases including Rett syndrome (RTT) and Tourette syndrome. Studies in the literature as well as our preliminary reports showed that Rett syndrome and Tourette syndrome/Tic disorders are associated with a dysbiosis of the gut microbiota compared to normal control. Probiotic Lactobacillus plantarum PS128 is a diet supplement that available for human consumption. Probiotic Lactobacillus plantarum PS128 had showed psychotropic effects such as ameliorate anxiety- and depression-like behaviors as well as altered the level of neurotransmitters such as dopamine in the brain in animal models, which might be through microbiota-gut-brain axis. Therefore, the purpose of this study is to access the possible neurobehavior effects of Probiotic Lactobacillus plantarum PS128 in Rett syndrome and Tic disorders/Tourette syndrome.
Introduction: Rett Syndrome is a neurodevelopmental disease that primarily affects girls. Clinically, patients are normal before six months to one and half years old, and then develop progressive severe problems with communication, learning, co-ordination and neurodevelopment, with loss of motor skills around the age of two. At the same time, stereotyped hand movement typically appears. However, some of them will improve the abilities in speech and eye gaze, and the repetitive hand movements may decrease after few years. Background / hypothesis：Preliminary evidence suggests that there are many differences in brain structure between Rett syndrome and normal people including cerebral volume reduction in both white matter and gray matter, cerebral blood flow in the frontal area, and density of receptors in basal ganglia. In MR imaging studies, decreases in parietal lobe gray matter were found, and several reductions in cortical white matter were observed by DTI. However, the visual related pathway- posterior corona radiata in Rett syndrome girls was normal to be increased in FA values. The similar result was also discovered in the superior longitudinal fasciculus, associated with speech, which equal to control subjects and patients with preserved speech (phrases and sentences).Despite this, few studies mentioned comparison with brain microstructure in the different stage, especially in adult patients. Therefore, our prospective study will be planned to figure out the specific changing pattern of brain structure in different stages of Rett syndrome. And the trajectory of microstructure in brain is going to be in accordance with the functional improvement. The investigators suppose that (1)there are different microstructural changes for patients with/without preserved mobility, verbal ability and communication skill; (2)there are a few specific brain microstructures changes in visual pathway; (3) there is a specific changing pattern of brain microstructure in different aging of Rett syndrome. To acquire more specific results, the investigators aim to apply conventional MRI, diffusion-spectrum imaging, and some clinical assessment tools like Rett syndrome -related questionnaire, SSI, PDMS-2 and six-minute walk test to investigate their correlation.
The aim of this study is to evaluate the safety and tolerability of triheptanoin in participants with Rett syndrome using laboratory values, electrocardiogram, rate of adverse events (AE), and physical exam.This study also seeks to evaluate the efficacy of UX007 (triheptanoin) in improving overall seizure frequency and dystonia.
Primary Objective: To test the hypothesis that 6 months treatment with glatiramer acetate (GA) decreases epileptiform activity in young girls with Rett syndrome. Primary Safety Objective:To evaluate the safety and tolerability of 6 months treatment with GA in these patients. Secondary Objectives: 1. To test the hypothesis that 6 months treatment with glatiramer acetate (GA) improves respiratory dysfunction. 2. To evaluate the effect of GA treatment on general behaviour communication, hand stereotyping, feeding, sleep and other autonomic symptoms: gastrointestinal and cardiac. 3. To assess the effect of GA treatment on bodily development. Primary Endpoint:Improvement of epileptiform activity as recorded in a 24-hours EEG. Primary Safety Endpoint:Frequency and severity of treatment-related AEs (including safety lab parameters). Secondary Endpoints: 1. Improvement in the scoring of breath holds and hyperventilation, as measured with non-invasive respiratory inductance plethysmography (NoxT3 device) and parents' diaries. 2. Changes in general behaviour, communication, feeding and motor skills as assessed by the investigator (based on Kerr and Naidu validated severity scores) and recorded in parents' diary. 3. Decrease in seizure frequency as reported in parents' diary. 4. Improvement in sleep schedule as recorded in a sleep diary. 5. Change in height and weight. Population:Ten girls, 6 to 15 years old, diagnosed with Rett syndrome (RTT) Study Design:This is a single - center, exploratory, open-label, study in 10 girls diagnosed with RTT. The study will consist of four parts: Screening and baseline assessments, initial and final dose-setting period, treatment period and end-of study follow-up. Investigational Product:Glatiramer Acetate (Copaxone® , Teva Pharmaceutical Industries Ltd.) Sample Size Consideration: The planned sample size of 10 patients was considered adequate by the investigator for this phase I exploratory proof-of-concept study. The study is not expected to show statistical significance or statistical power, only a trend for the study endpoints. Each patient will serve as her own control. Duration of Study: Approximately 8 months per patient (including up to 2 weeks pre-treatment assessment, 6 months initial dose and treatment periods and end-of study visit). Overall study duration: the study is expected to be completed within 12 months (dependent on rate of recruitment).
Rett syndrome (RTT) is a disorder in which the nervous system does not develop properly. RTT generally affects girls, but there are some boys who have been diagnosed with RTT. Symptoms of RTT include small brain size, poor language skills, repetitive hand movements, and seizures. This study will evaluate the effectiveness of two drugs in treating the symptoms of RTT.