Rett Syndrome clinical trials at UCSD
4 in progress, 3 open to eligible people
Biobanking of Rett Syndrome and Related Disorders
open to all eligible people
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 mutations who do not have RTT. Although all these disorders are the result of specific genetic changes, there remains broad clinical variation that is not entirely accounted for by known biological factors. Additionally, clinical investigators currently do not have any biomarkers of disease status, clinical severity, or responsiveness to therapeutic intervention. To address these issues, biological materials (DNA, RNA, plasma, cell lines) will be collected from affected individuals and in some cases from unaffected family members, initial evaluation performed to identify additional biological factors contributing to disease severity, and these materials will be stored for future characterization.
San Diego, California and other locations
Natural History of Rett Syndrome & Related Disorders
open to all eligible people
The purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT including the range of clinical involvement and to correlate genotype-phenotype over a broad spectrum of phenotypes. While much has been learned about RTT, improvements are required in understanding the role of factors such as X chromosome inactivation, genetic background, and others including the environment, on the great variability observed even between individuals with the same MECP2 mutation. These data will be essential to the development and conduct of clinical trials that are anticipated from ongoing studies in animal models for RTT. This study will not include clinical trials, but should set the stage for such trials and other translational research projects (e.g., development of biomarkers).
San Diego, California and other locations
Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDER™)
open to eligible females ages 5-20
To investigate the efficacy of treatment with oral trofinetide versus placebo in females with Rett syndrome
La Jolla, California and other locations
Open-Label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome
Sorry, accepting new patients by invitation only
To investigate the safety and tolerability of long-term treatment with oral trofinetide in girls and women with Rett syndrome
La Jolla, California and other locations
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