MedTrace Logo

Biobanking of Rett Syndrome and Related Disorders

NCT02705677 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 752

Last updated 2021-08-05

No results posted yet for this study

Summary

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.

Conditions

Sponsors & Collaborators

  • National Institutes of Health (NIH)

    collaborator NIH

  • National Center for Advancing Translational Sciences (NCATS)

    collaborator NIH

  • Office of Rare Diseases (ORD)

    collaborator NIH

  • 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

  • Jeffrey L Neul, MD, PhD · UCSD

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-09-01
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 NCT02705677 on ClinicalTrials.gov