Rett Syndrome Clinical Trial
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.
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.
;
Primary Purpose: Treatment
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
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Phase 2 | |
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N/A | |
| Completed |
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||
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||
| Recruiting |
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||
| Completed |
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Phase 3 | |
| Completed |
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|
Phase 3 | |
| Enrolling by invitation |
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|
N/A | |
| Completed |
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||
| Terminated |
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Phase 1 | |
| Completed |
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||
| Completed |
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N/A | |
| Recruiting |
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Early Phase 1 | |
| Completed |
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Phase 3 | |
| Recruiting |
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