Clinical Trials for Rett Syndrome

Source: ClinicalTrials.gov — U.S. National Library of Medicine — A database of privately and publicly funded clinical studies conducted around the world (U.S. National Library of Medicine, public domain).

This page lists clinical trials related to Rett Syndrome from the ClinicalTrials.gov database.

Trial Summary

• Total studies: 50
• Recruiting: 16
• Active, not recruiting: 8
• Completed: 14
• Other: 12

Results are refreshed periodically and may not reflect the most current information available from ClinicalTrials.gov.

Recruiting Trials

NCT04463316 — GROWing Up With Rare GENEtic Syndromes

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.

Incre…

NCT05740761 — Gene Editing as a Therapeutic Approach for 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.

NCT05012475 — Measuring Impact of Computer Gaming on Arm Use in Rett Syndrome

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 …

NCT04900493 — The Rett Syndrome Global Registry

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 an…

NCT05432349 — Rett Syndrome Registry

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. Th…

NCT06139172 — Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)

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 du…

NCT05932589 — Neurophysiologic Biomarkers in Rett Syndrome

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 a…

NCT06430385 — ATTUNE: A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome (MDS)

The primary purpose of this study is to evaluate the safety and tolerability of ION440.

NCT06705816 — Cognitive Function in Rett Syndrome During Trofinetide Treatment

Assessing cognitive functions among individuals with severe intellectual and developmental disabilities (IDD), including RTT, is often challenging due to floor effects of many standardized assessment batteries in this population. In addition, deficits in motor function and verbal ability may obscure certain abilities in this population when using standard IQ measures. Remote eye-tracking tasks …

NCT06338267 — Validating Innovative Biosensors for Rett Autonomic Symptom Tracking

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, b…

NCT07430046 — Repurposing Mirtazapine in Rett Syndrome

Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by an MECP2 gene mutation on the X chromosome, primarily affecting females. It causes progressive motor and cognitive decline, loss of speech, repetitive hand movements, breathing issues, seizures, and sleep problems. Given RTT’s association with reduced monoamine levels, antidepressants like mirtazapine (MTZ) may help.Preclinical…

NCT07569445 — Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome

This observational research study is designed to learn more about how the brain processes sound in individuals with Rett syndrome. Participants will complete a noninvasive electroencephalogram (EEG) recording while listening to simple sounds through headphones. In addition, parents or caregivers will complete questionnaires and an interview about the participant’s symptoms, communication abilit…

NCT07493096 — Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders

This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitation program. The program is designed for children with neurodevelopmental disorders, including but not limited to cerebral palsy, autism spectrum disorder, developmental delay, hypoxic ischemic encephalopathy (HIE), and chromosomal or gene…

NCT07150013 — Rett REVOLUTION Trial: An Exploratory Evaluation of the Safety and Efficacy of Vorinostat in Rett Syndrome

The RETT REVOLUTION trial is a placebo-controlled, single-blinded, exploratory study with patients serving as their own control (“N of 1” trial design) where the safety and efficacy of vorinostat in the treatment of Rett syndrome will be evaluated. Each patient will be self-controlled in an adapted N-of-1 study design methodology by using a 4-week placebo baseline. Vorinostat dose escalation wi…

NCT07480564 — Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome

The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.

NCT06840496 — To Investigate the Efficacy of Treatment With Oral NA-921 (Bionetide) Versus Placebo in Females With Rett Syndrome

Primary Objective • To investigate the efficacy of treatment with oral Bionetide versus placebo in girls and women with Rett syndrome

Key Secondary Objective

• To investigate the efficacy of treatment with oral Bionetide versus placebo on ability to communicate in girls and women with Rett syndrome

Active, Not Recruiting

NCT03655223 — Early Check: Expanded Screening in Newborns

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health condi…

NCT05606614 — A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)

The primary objectives of this study are to evaluate the safety of a single intrathecal (IT) dose of TSHA-102 in females with typical Rett syndrome, to select the TSHA-102 dose with the best benefit/risk profile based on the totality of safety and efficacy data and to evaluate the efficacy and safety of TSHA-102 at the selected dose.

NCT05898620 — A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome

This study will evaluate the efficacy and safety profiles of the investigational gene therapy, NGN-401, in females with typical Rett syndrome.

NCT06621043 — Assessing the Safety and Efficacy of Full-Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) in the Treatment of Rett Syndrome (RTT)

This 18-week open-label study examines the effectiveness of Full-Spectrum Medicinal Cannabis Plant Extract containing 0.08% THC (NTI164) in treating Rett syndrome (RTT) in children and young people. The study aims to determine the impact of NTI164 on RTT symptoms over a 16-week treatment period.

Participants will start with a daily dose of 5 mg/kg of NTI164, which will be gradually increased o…

NCT06152237 — Safety and Efficacy of TSHA-102 in Pediatric Females With Rett Syndrome (REVEAL Pediatric Study)

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.

NCT07418905 — Technology-supported Motor Rehabilitation for People With Rett Syndrome

This study focuses on improving purposeful arm use while simultaneously reducing engagement in stereotypies. It is typically expected that the training period for this study will last about 6 months. The first half of the training periods will be devoted to learning to separate hands to stop the stereotypies that interfere with arm and hand use. In this first half, participants will also need t…

NCT06856759 — Single-Dose AAV-MECP2 Safety/Tolerability and Efficacy in Rett Syndrome

Rett syndrome (RTT) is a serious neurodevelopmental disorder that has a significant impact on patients and their families. Patients suffer from severe social dysfunction and poor quality of life, and there is currently no effective treatment available. The MECP2 functional loss mutation is the clear pathogenic factor. In recent years, gene therapy has been applied in neuromuscular diseases such…

NCT07151950 — Obi Medical Robot: Evaluating Effectiveness Related to Usability

This mixed-methods usability study evaluates the effectiveness of the Obi Gen 3 robotic feeding device in meeting user needs among providers, caregivers, and patients. Participants will complete a one-week trial using Obi in home, school, or community settings, followed by feedback surveys and optional interviews. The study seeks to validate that the device design meets usability requirements p…

Not Yet Recruiting

NCT04041713 — A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome

This study will examine the potential efficacy and safety of Rett-T for core motor deficits of Rett syndrome, and will explore biological markers of safety and treatment response.

NCT07503444 — A Phase 3 Study of Fenfluramine Hydrochloride in Rett Syndrome

The purpose of this study is to investigate the efficacy of fenfluramine hydrochloride (HCl) versus placebo in study participants with Rett syndrome (RTT).

NCT07257978 — Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome

The FENRTT2 study will investigate the efficacy and safety of a medicinal cannabis plant extract with extremely low THC (delta-9-tetrahydrocannabinol), NTI164, on Rett syndrome (RTT) in a crossover design. RTT is a devastating rare genetic condition affecting females and involves debilitating physical and intellectual symptoms. NTI164 is an oil which has demonstrated efficacy in reducing sympto…

Enrolling by Invitation

NCT03836300 — Parent and Infant Inter(X)Action Intervention (PIXI)

The 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 a neurogenetic disorder with associated developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes f…

NCT06739434 — GCB-002 in Treatment of Patients With Rett Syndrome

Study Brief Summary overall design This study explored dose escalation of single-arm, open, single intrathecal injection in female RTT subjects with MECP2 gene mutations. The investigator plans to conduct 2-3 dose groups. It is expected that each dose group will enroll 3 subjects, with a total of 6-9 female RTT subjects aged 2-10 years old due to MECP2 gene mutations.

dose escalation

1. For s…

NCT07640503 — Lamivudine as a Novel Clinical Effort for Rett Syndrome

Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder caused primarily by mutations in the MECP2 gene, leading to progressive impairments in motor function, communication, and behavior following an initial period of apparently typical development. Currently, there are no treatments that change the course of the disease, and clinical care is largely focused on managing symptoms. Loss…

Completed Trials

NCT02110797 — Osteoporosis in RETT Syndrome

Based on our clinical observations, many girls with RETT syndrome, a severe neuro-developmental encephalopathy, suffer from osteoporosis which can appear at a very early age (before age 10) and can lead to fractures, pain and a limitation in mobility. Few epidemiological studies have estimated the frequency of osteoporosis in girls with RETT syndrome and showed that they are more exposed then c…

NCT06335368 — Assessment of Nutritional and Growth Status in Rett Syndrome Patients

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 …

NCT03276195 — Studies in Patients With Tuberous Sclerosis Complex

This study is aimed to carry out a systematic study to examine the effects of genetic variants (genetic modifiers) other than TSC genes on phenotypic variability in familial TSC patients (affected parent, child and unaffected siblings) and sporadic TSC.

NCT03633058 — A Study to Evaluate Ketamine for the Treatment of Rett Syndrome

This 2 cohort, sequential, ascending dose study will assess the safety, tolerability and efficacy of oral ketamine dosed in a single 5-day BID regimen in addition to placebo, in a 4-week cross-over design in patients with Rett Syndrome. Approximately 12 patients per cohort are anticipated to participate for approximately 8-10 weeks at approximately 7 US study centers.

NCT04181723 — Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDER™)

To investigate the efficacy of treatment with oral trofinetide versus placebo in females with Rett syndrome

NCT04279314 — Open-Label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome

To investigate the safety and tolerability of long-term treatment with oral trofinetide in girls and women with Rett syndrome

NCT04304482 — ANAVEX2-73 Study in Pediatric Patients With Rett Syndrome

ANAVEX2-73-RS-003 is a Phase 2/3, double-blind, randomized, placebo-controlled dose escalation safety, tolerability and efficacy study in patients 5-17 years of age with RTT using endpoints including multiple clinical and exploratory molecular and biochemical measures.

NCT04514549 — ASSESSING EMERALD AND MC10 BIOSTAMP nPOINT BIOSENSORS FOR RETT SYNDROME

This is a pilot study of the Emerald device in Rett syndrome patients diagnosed with a confirmed MECP2 mutation. MC10 BioStamp nPoint patches will also be assessed with the goal to develop Rett-specific breathing algorithms

NCT05488938 — Intensive Anti-Scoliosis Postural Intervention for Individuals With Rett Syndrome Supported by a Smartphone Application

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 c…

NCT05691582 — Tolerability of the Immersive Virtual Reality System Grail in Subjects Affected by Rett Syndrome

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 tread…

NCT05420805 — Protective Role of Pre-/ Post-biotics on Gut Inflammation, Dysbiosis, and Life Quality in Rett Syndrome (Biotics_RTT)

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.

NCT05687214 — Osteopathic Manipulative Treatment for Constipation in People With 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 c…

NCT06199700 — Esketamine for the Treatment of Rett Syndrome

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 …

NCT06849973 — To Study the Efficacy & Safety of Oral NA-921 (Bionetide) in Girls and Women with Rett Syndrome

To study the efficacy & safety of oral Bionetide versus placebo in girls and women with Rett syndrome

Other (Unknown)

NCT06346444 — Biomarkers in Rett Syndrome

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, abno…

Other (Terminated)

NCT04776746 — Open-Label Extension Study of Trofinetide for Rett Syndrome

To investigate the safety and tolerability of continued long-term treatment with oral trofinetide in girls and women with Rett syndrome

NCT04988867 — An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome

To investigate the safety and tolerability of long-term treatment with oral trofinetide in girls with Rett syndrome

NCT05625568 — Study of VYNT-0126 in the Treatment of Rett Syndrome in Adult Patients

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.

NCT06346106 — The Diagnostic Experience of Male Rett Syndrome

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 wit…

NCT06014541 — Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

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, gastr…