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Rett Syndrome clinical trials

View clinical trials related to Rett Syndrome.

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NCT ID: NCT06346444 Recruiting - Rett Syndrome Clinical Trials

Biomarkers in Rett Syndrome

BIRS
Start date: August 3, 2020
Phase:
Study type: Observational [Patient Registry]

Rett syndrome (RTT) is an X-linked genetic disorder that causes severe neurological development disorder. In its classic form, it seems to affect almost exclusively females with an incidence of up to one in 10,000 females. Patients affected by Rett Syndrome can present a wide range of symptoms, in different combinations and of varying intensity, such as slowed growth of head circumference, abnormalities in walking and balance, loss of functional use of the hands often replaced by repetitive and stereotyped hand movements like "hand washing", loss of communicative-relational skills including expressive language, epilepsy, breathing abnormalities, and osteo-muscular alterations. In light of the growing potential of clinical therapies, identification and early diagnosis are considered essential. Many disease modification strategies have been achieved through translational research studies and clinical trials that have allowed the recognition of the most effective therapeutic and clinical interventions to date. This study arises from the need to advance in the understanding of the pathogenesis of RTT through a multicentric collaboration in order to (a) identify early biomarkers of RTT (b) delve into the alterations of interconnectivity, crucial for understanding the loss of motor functions and language through systematic collection of anamnestic, genetic, and clinical-instrumental data. The aim is to provide a valuable contribution to the study of the clinical phenotype of Rett and the identification of early interventions.

NCT ID: NCT06346106 Recruiting - Rett Syndrome Clinical Trials

The Diagnostic Experience of Male Rett Syndrome

Start date: May 24, 2023
Phase:
Study type: Observational

The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome. Key information examined includes the process of getting a male Rett syndrome diagnosis, your son's systems of care, and your priorities for his health needs. Enrolled participants will complete an online survey with questions about having a son with Rett Syndrome. The Diagnostic Experience of Male Rett Syndrome study is available to parents or caregivers to boys (alive or passed) with Rett Syndrome. Compensation is not provided.

NCT ID: NCT06338267 Not yet recruiting - Rett Syndrome Clinical Trials

Validation of Innovative Biosensors for Rett Autonomic Symptom Tracking

VIBRANT
Start date: May 2024
Phase:
Study type: Observational

The VIBRANT study aims to validate biosensors to objectively and directly measure symptoms in Rett syndrome and create confidence in the use of these devices in clinical trials. VIBRANT will use several FDA-cleared wearable biosensors and a non-wearable device to collect symptom data from patients with Rett syndrome for up to 9 weeks. Symptoms of interest include heart rate, breathing, sleep, blood oxygen levels, and movement. Participants will use the biosensors intermittently at home, document device use and symptom status, and will come to the clinic for 1 overnight sleep study. A cohort of up to 10 participants receiving an intervention in a separate clinical trial may also enroll and participate on a custom device schedule for up to 1 year. The study will provide information on the feasibility and ease of use for families at home, biosensor data will be compared to data collected at the same time from the overnight sleep study to demonstrate how well they work in individuals with Rett syndrome, and Emerald will be developed to include movement as a measurable symptom.

NCT ID: NCT06335368 Completed - Neurologic Disorder Clinical Trials

Assessment of Nutritional and Growth Status in Rett Syndrome Patients

Start date: March 9, 2016
Phase:
Study type: Observational

Children with Rett syndrome are in a period of rapid growth, and proper and appropriate nutritional support is very important. Past foreign research papers it has been pointed out that most of these patients have feeding difficulties, dysphagia, and digestive tract abnormalities, are often constipated, and may suffer from osteoporosis and other problems. Lack of proper nutritional support will seriously affect their growth, development and health. in view of There is a lack of relevant research in China, so the investigators would like to use this research to explore the nutritional, growth and postural status of Rett's disease patients, as the reference direction and goal of dietary adjustment and nutritional support for patients, and establish dietary and nutritional strategies for sick children in Taiwan.

NCT ID: NCT06199700 Recruiting - Rett Syndrome Clinical Trials

Esketamine for the Treatment of Rett Syndrome

Start date: November 15, 2023
Phase: Early Phase 1
Study type: Interventional

The goal of this interventional study is to learn about the efficacy and safety of Esketamine for treating children with Rett syndrome (RTT). The main questions it aims to answer are: - whether Esketamine treatment is effective in improving symptom severity for RTT. - whether Esketamine is safe in the treatment of RTT. Participants will receive a weekly intravenous infusion of Esketamine for five weeks and will be assessed for disease severity and drug safety.

NCT ID: NCT06152237 Recruiting - Rett Syndrome Clinical Trials

Safety and Efficacy of TSHA-102 in Pediatric Females With Rett Syndrome (REVEAL Pediatric Study)

Start date: December 12, 2023
Phase: Phase 1
Study type: Interventional

The REVEAL Pediatric Study is a multi-center, Phase 1/2 open-label, dose-escalation and dose-expansion study of TSHA-102, an investigational gene therapy, in pediatric females with Rett Syndrome. The safety, tolerability, and preliminary efficacy of two dose levels will be evaluated. The study duration is up to 6 years.

NCT ID: NCT06139172 Enrolling by invitation - Fragile X Syndrome Clinical Trials

Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities

Start date: September 15, 2023
Phase: N/A
Study type: Interventional

The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals with syndromic intellectual and developmental disorders. Participants will be asked to complete virtual study assessments at intake and then on a monthly basis for the duration of 3-6 months. In addition, participants will attend weekly or biweekly virtual intervention visits with a study therapist.

NCT ID: NCT06014541 Recruiting - Clinical trials for Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

Start date: October 3, 2023
Phase:
Study type: Observational

The purpose of the study is to prospectively assess longitudinal changes in biomarkers (MECP2, potential biomarkers of target engagement and disease activity) in cerebrospinal fluid (CSF) and blood; characterize longitudinal changes in performance on clinical scales (clinician-reported measures of neurodevelopment and functioning) and caregiver-reported outcome assessments (communication, gastrointestinal, social-emotional-adaptive behavioral measures); evaluate longitudinal changes in caregiver-reported health-related quality-of-life measures; and assess the frequency, type, and severity of seizures over time.

NCT ID: NCT05932589 Recruiting - Rett Syndrome Clinical Trials

Neurophysiologic Biomarkers in Rett Syndrome

Start date: October 11, 2023
Phase:
Study type: Observational

The goal of this observational study is to identify candidate biomarkers in individuals with Rett Syndrome (RTT). The main questions it aims to answer are: - Do these biomarkers change during clinical changes in individuals with RTT? - Are biomarkers stable over time in clinically stable individuals? - Do these biomarkers correlate with severity of RTT? Participants will be asked to undergo an electroencephalogram (EEG) with measurements of Evoked Potentials (EP) to measure electrical activity in the brain. Researchers will compare findings in individuals with RTT to those in typically developing individuals to see if there are differences between the two groups.