Clinical trials: Rett Syndrome
Rett Syndrome
The Findings of MR Imaging in Rett 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…
- Trial name
- NCT02903056
- Testing
- Rett Syndrome
- Where
- Taiwan
- Volunteers
- 100 people
- Sponsor
- National Taiwan University Hospital
Rett Syndrome, MECP2 Duplication Disorder
Genetic and Physical Characteristics of Rett Syndrome
Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2.
- Conditions
- Rett Syndrome, MECP2 Duplication Disorder, Rett-related Disorder
- Trial name
- NCT00299312
- Where
- 11 sites in United States
- Volunteers
- 10 people
- Sponsor
- University of Alabama at Birmingham
Rett Syndrome
Development of a Behavioral Outcome Measure for Rett Syndrome (RettBe)
The overall purpose of this study is to develop a broad-based (i.e., multiple domains) behavioral outcome measure for children between the ages of 3-18 years with Rett syndrome (RTT).
- Trial name
- NCT03196323
- Where
- United States
- Volunteers
- 146 people
- Sponsor
- University of South Florida
Rett Syndrome, Rett Syndrome, Atypical
Rett Syndrome Registry
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome.
- Conditions
- Rett Syndrome, Rett Syndrome, Atypical, Genetic Disease, Genetic Diseases, X-Linked
- Trial name
- RSR (NCT05432349)
- Where
- 19 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- International Rett Syndrome Foundation
Rett Syndrome
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.
- Trial name
- NCT05488938
- Testing
- Rehabilitative Intervention
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Ariel University
Rett Syndrome
ANAVEX2-73 Study in Patients With Rett Syndrome
ANAVEX2-73-RS-002 is a Phase 3, double-blind, randomized, placebo-controlled dose escalation safety, tolerability and efficacy study in patients 18 years and older with RTT using endpoints including multiple clinical and…
- Trial name
- AVATAR (NCT03941444)
- Testing
- ANAVEX2-73
- Where
- 7 sites in Australia, United Kingdom
- Volunteers
- 33 people
- Sponsor
- Anavex Life Sciences Corp.
Rett Syndrome, RTT
A Long-term Safety Study of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome
This study will be conducted to evaluate the long-term safety of cannabidiol oral solution (GWP42003-P, CBD-OS) in participants with Rett syndrome.
- Trial name
- NCT04252586
- Testing
- GWP42003-P
- Where
- 31 sites in United States, Australia and 4 more
- Volunteers
- 21 people
- Sponsor
- Jazz Pharmaceuticals
Rett Syndrome
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.
- Trial name
- BIRS (NCT06346444)
- Testing
- Diagnostic test and behavioral
- Where
- 4 sites in Ireland, Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Rett Syndrome
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.
- Trial name
- NCT04041713
- Testing
- Rett-T
- Where
- Canada
- Volunteers
- 35 people
- Sponsor
- Holland Bloorview Kids Rehabilitation Hospital
Rett Syndrome
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
- Trial name
- DAFFODIL™ (NCT04988867)
- Testing
- Trofinetide
- Where
- 7 sites in United States
- Volunteers
- 15 people
- Sponsor
- ACADIA Pharmaceuticals Inc.
Rett Syndrome
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…
- Trial name
- LANCE (NCT07640503)
- Testing
- Lamivudine
- Where
- Brazil
- Volunteers
- 10 people
- Sponsor
- Maria Denise Fernandes Carvalho de Andrade
Rett Syndrome, MECP2 Duplication
Biobanking of Rett Syndrome and Related Disorders
The overarching purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), RTT-related disorders including CDKL5, FOXG1, and individuals with MECP2…
- Conditions
- Rett Syndrome, MECP2 Duplication, CDKL5, FOXG1 Disorders
- Trial name
- NCT02705677
- Where
- 12 sites in United States
- Volunteers
- 752 people
- Sponsor
- University of Alabama at Birmingham
Rett Syndrome
Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)
The investigators are recruiting children for a research study using a medication known as IGF-1 (mecasermin or INCRELEX) to see if it improves the health of children with Rett syndrome (RTT).
- Trial name
- NCT01253317
- Testing
- rhIGF-1
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Boston Children's Hospital
Rett Syndrome
An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome
Primary Objective: To test the hypothesis that 6 months treatment with glatiramer acetate (GA) decreases epileptiform activity in young girls with Rett syndrome.
- Trial name
- NCT02023424
- Testing
- Glatiramer Acetate (Copaxone®)
- Where
- Israel
- Volunteers
- 10 people
- Sponsor
- Sheba Medical Center
Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD)
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.
- Conditions
- Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder)
- Trial name
- GEN-HOPE (NCT07493096)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Healing Hope International
Rett Syndrome
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).
- Trial name
- NCT06199700
- Testing
- Esketamine hydrochloride
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Children's Hospital of Fudan University
Tuberous Sclerosis Complex
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…
- Trial name
- NCT03276195
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Translational Genomics Research Institute
Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
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.
- Trial name
- NCT06430385
- Testing
- ION440
- Where
- 12 sites in United States, Austria and 3 more
- Volunteers
- 48 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Rett Syndrome, RTT
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…
- Conditions
- Rett Syndrome, RTT, Rett Syndrome, Atypical
- Trial name
- NCT05932589
- Testing
- EEG and Auditory and Visual Evoked Potentials (AEP and VEP), Clinical assessment
- Where
- 6 sites in United States
- Volunteers
- 222 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia