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Natural History of Rett Syndrome & Related Disorders

NCT02738281 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 1044

Last updated 2021-08-05

No results posted yet for this study

Summary

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).

Conditions

Sponsors & Collaborators

  • National Institutes of Health (NIH)

    collaborator NIH

  • National Center for Advancing Translational Sciences (NCATS)

    collaborator NIH

  • Rare Diseases Clinical Research Network

    collaborator NETWORK

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    collaborator NIH

  • National Institute of Neurological Disorders and Stroke (NINDS)

    collaborator NIH

  • University of Alabama at Birmingham

    lead OTHER

Principal Investigators

  • Alan K Percy, MD · University of Alabama at Birmingham

  • Jeffrey L Neul, MD, PhD · Vanderbilt University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-11-30
Primary Completion
2021-07-31
Completion
2021-07-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02738281 on ClinicalTrials.gov