Study of the Pathogenesis of Rett Syndrome
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|ClinicalTrials.gov Identifier: NCT00004807|
Recruitment Status : Completed
First Posted : February 25, 2000
Last Update Posted : June 24, 2005
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.
|Condition or disease||Intervention/treatment|
|Rett Syndrome||Drug: dextromethorphan Drug: topiramate Drug: Donepezil|
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 Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||120 participants|
|Study Start Date :||January 1995|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004807
|Study Chair:||Sakkubai Naidu||Johns Hopkins University|