View clinical trials related to Rett Syndrome.
Filter by:This study will evaluate the safety profile of the investigational gene therapy, NGN-401, in female children with typical Rett syndrome.
We designed the project to validate CRISPR/Cas9-based gene editing combined with AAV-based delivery for correction of the most common MECP2 mutations both in vitro and in vivo.
The main goal of this study is to investigate the tolerability to the use of the GRAIL system in subjects affected by Rett syndrome, particularly referred to: 1. Grail environment (training in dark conditions, interaction with wide and surrounding screen, positioning over the treadmill); 2. time to prepare a set of body marker in order to execute a gait analysis; 3. walking activity over treadmill, with immersive virtual reality; 4. proprioceptive stimulatione provided by the GRAIL platform; 5. cognitive-attentive span time to the activity proposed. The secondary goal is to understand if a training that avail of treadmill and virtual reality would be useful in the future in improving gait characteristics in subjects affected by Rett syndrome
Constipation consists of bowel symptoms characterized by difficulty or infrequency passage of stool, stiff stool, or a feeling of incomplete evacuation. However, its impact goes far beyond this definition. Constipation negatively impacts the quality of life (QoL) of children and adults suffering from this condition, affecting mental and physical-related QoL. Additionally, a negative impact of constipation on QoL was found in parents carrying children with constipation, affecting family functioning. People with an intellectual disability present a constipation rate of over 33%. Rett syndrome (RTT) is a complex neurodevelopmental disorder affecting about 1/10,000 females and a few males worldwide. Chronic constipation is persistent in people with RTT, with a reported prevalence higher than 74%. Specific recommendations for constipation management in RTT were developed, including behavioral, pharmacological, and surgical considerations. Recently, the literature has been enriched with papers describing the osteopathic treatment efficacy in reducing constipation. Emerging literature reported the efficacy of OMT in reducing constipation symptoms and improving QoL in typically developed people, as well as in children with disability. The present study aims to evaluate the efficacy of a specific OMT for managing chronic constipation in people with RTT and its impact on primary caregivers' quality of life. Research questions: - Can an OMT improve the constipation of people with RTT, increasing the frequency of bowel movements? - Can the effects of an OMT aimed at reducing the constipation symptoms in people with RTT positively impact the participants' parents' constipation-related QoL? Twelve individuals with RTT and their families will be recruited to participate in this single-blind parallel group-randomized study. Participants will be randomly divided into an experimental group (EG) and a control group (CG). After the preliminary evaluations, each participant will undergo eight OMT carried out weekly for eight weeks. The OMT will aim to facilitate bowel movements by increasing blood flow through the abdomen. At the end of the treatment, the participants will repeat the evaluation conducted before the OMT, and the collected data will be analyzed.
This is an exploratory, Phase 2, multicenter, double-blind, parallel-group, placebo-controlled study to assess the safety, tolerability, and efficacy of oral treatment with VYNT-0126 in female subjects 18-45 years of age with Rett syndrome.
The REVEAL Adult Study is a multi-center, Phase 1/2 open-label, dose-escalation study of TSHA-102, an investigational gene therapy, in adult females with Rett syndrome. The safety, tolerability, and preliminary efficacy of two dose levels will be evaluated. The study duration is estimated to be up to 63 months.
Background: Scoliosis is the most common orthopedic comorbidity in Rett syndrome (RTT), with a prevalence of 94% and a mean curve progression of 14-21° Cobb annually. A scoliosis prevention intervention based on daily activity programs was proposed for people with RTT within uncontrolled study designs. Aim: The current study aims to evaluate the effectiveness of a home-based activity program carried out during daily life to slow the progression of scoliosis in girls with RTT. Ethics: The proposal was approved by Ariel university IRB. All participants' parents will sign informed consent forms. Participants: Twenty Italian girls aged between six and 16 years with a genetically confirmed classic RTT and scoliosis at a severity level between 10° and 40° Cobb will be recruited and randomly divided into two groups (immediate intervention - Group 1; wait-list-intervention - Group 2). Both groups will follow the same 10-month intervention program, 10 months apart. Outcome measures: Participants' scoliosis Cobb's angle, motor functioning, and behavioral characteristics will be assessed three times. Procedure: Each participant will be evaluated three times: at T1, T2, and T3. Participants in the Group 1 will conduct the intervention for 10 months between T0 and T1. Group 2 will perform the intervention between T1 and T2. The interventions will comprise daily home-based activity programs carried out by participants' caregivers within everyday living environments. An expert therapist will remotely supervise each program through an ad hoc developed smartphone application. Specific strategies that will be implemented during the intervention will include the maintenance of asymmetrical postures that oppose the scoliosis curve during activities and exercises in sitting, standing, and walking positions (according to each participant's functional abilities). These strategies refer to a hypercorrective postural positioning of scoliosis. In addition, activities involving weight bearing on the lower limbs, such as walking and standing for at least two hours a day, will be encouraged, and passive stretching and spinal mobilization exercises will be conducted.
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.
The study will examine the potential efficacy and safety of two pre- and post-biotics on markers for gut inflammation and intestinal microbiota ecology in patients with Rett syndrome. Moreover, this trial will search for possible effects on epileptogenesis and quality of life.
Randomized, placebo-controlled trial of oral calcium supplementation for osteopenia in girls and women with Rett syndrome