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Study of the Pathogenesis of Rett Syndrome

Descriptive Information
Brief Title † Study of the Pathogenesis of Rett Syndrome
Official Title †
Brief Summary OBJECTIVES: I. Extend current knowledge of the phenotype and natural history of Rett syndrome (RS). II. Continue the search for a cytogenetic and/or DNA marker. III. Study the effects of cholinergic drugs based on preliminary evidence for reduced levels of brain acetylcholine, while continuing supportive care to modify seizures, respiratory abnormalities, and motor disturbances, and improve nutrition, behavior, and learning. IV. Identify targets for future therapeutic interventions, e.g., growth factors, to influence neurologic recovery.
Detailed Description PROTOCOL OUTLINE: Patients receive a comprehensive clinical evaluation including an ophthalmologic exam; speech, communication, and developmental assessment; nutritional evaluation; neurologic exam; respiratory monitoring; and cytogenetic studies. Selected patients with malnutrition are given night feedings of Pediasure with Fiber by nasogastric tube. Specific recommendations for feeding techniques and diet are made. Selected patients with seizures or severe hyperventilation and progressive rigidity are nonrandomly assigned to dextromethorphan or topiramate therapy. Oral dextromethorphan is maintained 6 months to 1 year; duration of therapy depends on response. Oral topiramate is given for 6 months to 1 year, and Aricept for 6 months to 1 year. Concurrent anticonvulsants may require dose adjustments while on above protocols. Supportive care for constipation, scoliosis, and weight loss is allowed.
Study Phase N/A
Study Type † Interventional
Study Design † Primary Purpose: Treatment
Primary Outcome Measure †
Secondary Outcome Measure †
Condition † Rett Syndrome
Intervention † Drugdextromethorphan
Study Arms / Comparison Groups
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status † Drug
Estimated Enrollment † 120
Start Date † January 1995
Completion Date
Primary Completion Date
Eligibility Criteria † PROTOCOL ENTRY CRITERIA: Rett syndrome Diagnosis confirmed on study
Gender Both
Ages N/A - 45 Years
Accepts Healthy Volunteers No
Contacts ††
Location Countries †
Administrative Information
NCT ID † NCT00004807
Organization ID 199/12009
Secondary IDs †† JHUSM-KKI-87021203
Responsible Party
Study Sponsor † Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborators †† Johns Hopkins University
Investigators † Study Chair: Sakkubai Naidu, Johns Hopkins University
Information Provided By
Verification Date December 1998
First Received Date † February 24, 2000
Last Updated Date June 23, 2005
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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