NCT00004807

Study of the Pathogenesis of Rett Syndrome

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 120 (planned)
• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · NIH
• Sex: All
• Age: 0 Years – 45 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Rett Syndrome

Interventions

Type	Name	Description
DRUG	dextromethorphan
DRUG	topiramate
DRUG	Donepezil

Timeline

• Start date: 1995-01-01
• First posted: 2000-02-25
• Last updated: 2005-06-24