Rett Syndrome Clinical Trial
Official title:
Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol
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).
At the present time, effective treatments for RTT, MECP2 Dup, or Rett-related disorders are lacking. Substantial progress has been made in RTT over the past eleven years such that this study represents a narrowing of focus to mutations or duplications of the MECP2 gene and related disorders, including those with phenotypic overlap. Understanding of RTT has advanced remarkably well through the Rett Syndrome Natural History Clinical Protocol (NHS) and correspondingly advancement in the basic science realm has moved forward with equivalent success. Thus, progress in clinical and basic science has led to the establishment of clinical trials and other translational studies that hold promise for additional clinical trials in future. In the process, however, additional MECP2- and RTT-related disorders that were unknown at the time the original proposal have been identified. In addition, substantial clinical variability in individuals with RTT that cannot be explained by differences in mutations alone must be explored further. In fact, variability among individuals with identical mutations has led to the search for additional explanations. At the time of the initial application (2002), just three years after the identification of the gene, MECP2, as the molecular link to RTT, the variation in clinical disorders related to MECP2 mutations or to the related but quite different MECP2 Dup were unknown. Each disorder is characterized by significant neurodevelopmental features related either to alterations in the MECP2 gene or related to phenotypes closely resembling those seen in individuals with RTT. Further, the phenotypic overlap with RTT due to mutations in CDKL5 and FOXG1 was also unexplored. This new study will build on the substantial progress made in understanding both classic and variant RTT and to add these related disorders, MECP2 Dup and the Rett-related disorders including CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT. A comprehensive clinical research program will be performed including clinical, neurophysiologic, and molecular and biochemical markers across these different, but related disorders. This protocol will address the natural history components only and will serve as the basis for other study protocols including the neurophysiologic and biomarker studies. Thereby, these studies will represent a continuing pathway to focus and inform not only the ongoing but also the emerging clinical trials. ;
Status | Clinical Trial | Phase | |
---|---|---|---|
Completed |
NCT04988867 -
An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome
|
Phase 2/Phase 3 | |
Recruiting |
NCT00069550 -
Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome
|
Phase 3 | |
Enrolling by invitation |
NCT06139172 -
Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities
|
N/A | |
Not yet recruiting |
NCT04041713 -
A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome
|
Phase 2 | |
Not yet recruiting |
NCT04014985 -
Patients With RETT Syndrome
|
N/A | |
Completed |
NCT02705677 -
Biobanking of Rett Syndrome and Related Disorders
|
||
Terminated |
NCT02790034 -
Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms
|
Phase 2/Phase 3 | |
Enrolling by invitation |
NCT03655223 -
Early Check: Expanded Screening in Newborns
|
||
Recruiting |
NCT05932589 -
Neurophysiologic Biomarkers in Rett Syndrome
|
||
Recruiting |
NCT04463316 -
GROWing Up With Rare GENEtic Syndromes
|
||
Completed |
NCT04776746 -
Open-Label Extension Study of Trofinetide for Rett Syndrome
|
Phase 3 | |
Completed |
NCT04181723 -
Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDERâ„¢)
|
Phase 3 | |
Enrolling by invitation |
NCT03836300 -
Parent and Infant Inter(X)Action Intervention (PIXI)
|
N/A | |
Completed |
NCT04514549 -
ASSESSING EMERALD AND MC10 BIOSTAMP nPOINT BIOSENSORS FOR RETT SYNDROME
|
||
Terminated |
NCT02562820 -
An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome
|
Phase 1 | |
Completed |
NCT05687214 -
Osteopathic Manipulative Treatment for Constipation in People With Rett Syndrome
|
N/A | |
Recruiting |
NCT06199700 -
Esketamine for the Treatment of Rett Syndrome
|
Early Phase 1 | |
Completed |
NCT03941444 -
ANAVEX2-73 Study in Patients With Rett Syndrome
|
Phase 3 | |
Recruiting |
NCT06346106 -
The Diagnostic Experience of Male Rett Syndrome
|
||
Not yet recruiting |
NCT06338267 -
Validation of Innovative Biosensors for Rett Autonomic Symptom Tracking
|