This study collects biological materials (DNA, RNA, plasma, cell lines) from people with RTT, MECP2 Dup, and RTT-related disorders and unaffected family members. The initial evaluation of these biological samples seeks to identify additional biological factors contributing to disease severity.
Several groups of people may participate in this study:
- Healthy family members.
- ndividuals with RTT, MECP2 Dup, and RTT-related disorders (mutations or deletions in CDKL5 and FOXG1 genes) who are also enrolled in the study Rett Syndrome, MECP2 Duplication Disorder, and Rett-Related Disorders Natural History Study.
These disorders are the result of specific genetic changes. However, there remains great clinical variation in these disorders that is not entirely explainable by known biological factors.
We currently do not have any biomarkers (characteristics of biological processes) of disease status, clinical severity, or responsiveness to treatments.
Subjects will be asked to give blood, give a skin sample and give a hair sample.
To be eligible to participate, you must:
- Family members for patients in the study
You are not eligible to participate if:
- You do not fit in one of the groups listed above
In order to participate in a study, you must personally contact the study coordinator of the participating institution closest to you by phone or e-mail. Please use the information below to inquire about participation.
University of Alabama at Birmingham
Coordinator: Jane Lane, RN, BSN
University of California, San Diego
Contact: Karen Ditslear, MS
UCSF Benioff Children's Hospital of Oakland
Contact: Erica Robertson
University of Colorado
Contact: Gina VanderVeen
Rush Medical Center
Contact: Thao Tran
Boston Children's Hospital
Coordinator: Lindsay Swanson
Cincinnati Children's Hosptial Medical Center
Contact: Sara Cannon, MPH
Children’s Hospital of Philadelphia
Contact: Casey Gorman
Contact: Nicole Thompson
Baylor College of Medicine
Coordinator: Moriah Marcogliese