“Pathogenesis of Rett Syndrome” Research Study

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Dr. SakkuBai Naidu is conducting a natural history study to determine the clinical course and severity of Rett syndrome. The type of MeCP2 or CDKL5 mutation, or their absence, as well as the age of the patient, will be correlated with the clinical severity. 

Females and males with Rett syndrome (RTT), less than 15 years of age, who have a mutation in the MeCP2 gene; those patients who have classical symptoms of RTT but who do not have a mutation in the MeCP2 gene; or those patients with RTT-like features who have a mutation in the CDKL5 gene, may join this study.

If you agree to have your child join this study, s/he will be admitted to the Johns Hopkins’ Pediatric Clinical Research Unit (PCRU) for three days for multidisciplinary evaluations including neurological, neuropsychological, and neurobehavioral evaluations; gastroentrology and nutritional assessments; physical and occupational therapies, as well as gait analysis. In addition, the following procedures will be performed: blood and urine assays, EEG, EKG, DEXA scan, and sedated neuroimaging studies-if clinically warranted. Esophageal manometry will be performed to see if there are any neurological causes of poor swallowing and reflux, and a pH probe will be done to assess gastroesophageal reflux.

As this is a study to determine the natural history of RTT, we will re-invite your child to participate approximately two years later in one similar follow-up study. This research study is funded by the National Institutes of Health, the Johns Hopkins General Clinical Research Center, and the Kennedy Krieger Institute’s Neurobehavioral Research Unit, therefore, all test procedures will be performed free-of-charge. The study will also pay for round trip travel for your child and one parent, if living in the USA.

As part of this observational study, we would also like to include healthy control subjects, who are younger than 15 years of age, who are willing to undergo outpatient brain imaging and/or donate blood, for which they will receive a $25.00 gift/certificate for each procedure.

If you are interested in having your child participate in this research study, contact us by phone at (443) 923-2778, or, e-mail Dr. Genila Bibat, our research associate, at bibat@kennedykrieger.org, and we will provide further details regarding the test procedures, risks, and benefits.

Principal Investigator: Sakkubai Naidu, MD, Director, The Neurogenetics Unit at the Kennedy Krieger Research Institute and Professor of the Departments of Neurology and Pediatrics at the Johns Hopkins University School of Medicine.


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Last revised 08-Oct-2006 by Steven Leber