5213: Biobanking of Rett Syndrome and Related Disorders Protocol

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. 

For Diseases:

Several groups of people may participate in this study:

  1. Healthy family members.
  2. 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.

Targeted Enrollment

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
Telephone: 205-934-1130
E-mail: jlane@uab.edu


University of California, San Diego
Contact: Karen Ditslear, MS
Telephone: 858-246-2288
E-Mail:  kditslear@ucsd.edu

UCSF Benioff Children's Hospital of Oakland
Contact:  Anthony Hanna
Phone: 925-979-4055
Email:  Hannaa@UCI.edu


University of Colorado
Contact: Gina VanderVeen
Phone: 720-777-5514
Email: Gina.VanderVeen@childrenscolorado.org


Rush Medical Center
Contact:  Jeremiah Furman
Phone:  312-942-2815
Email: Jeremiah_Furman@rush.edu


Boston Children's Hospital
Coordinator: Lindsay Swanson
Telephone: 617-355-5230
E-mail: Lindsay.swanson@childrens.harvard.edu


Cincinnati Children's Hosptial Medical Center
Contact: Shannon Standridge, DO
Telephone: 513-636-8016
Email: Shannon.Standridge@cchmc.org


Children’s Hospital of Philadelphia
Contact: Casey Gorman
Telephone: 267-426-5171
Email: gormanc@email.chop.edu


Vanderbilt University
Contact: Nicole Thompson
Phone: 615-343-4586
Email: Nicole.i.thompson@vanderbilt.edu


Baylor College of Medicine
Coordinator: Moriah Marcogliese or Amy Hirshkowitz
Telephone: 832-822-7388
E-mail: msmarcog@texaschildrens.org or axhirshk@texaschildrens.org