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Sponsors and Collaborators: |
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Johns Hopkins University |
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Information provided by: | Office of Rare Diseases (ORD) |
ClinicalTrials.gov Identifier: | NCT00004807 |
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 | Intervention |
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Rett Syndrome |
Drug: dextromethorphan Drug: topiramate Drug: Donepezil |
Study Type: | Interventional |
Study Design: | Treatment |
Estimated Enrollment: | 120 |
Study Start Date: | January 1995 |
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.
Ages Eligible for Study: | up to 45 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
PROTOCOL ENTRY CRITERIA:
Rett syndrome
Diagnosis confirmed on study
Study ID Numbers: | 199/12009, JHUSM-KKI-87021203 |
Study First Received: | February 24, 2000 |
Last Updated: | June 23, 2005 |
ClinicalTrials.gov Identifier: | NCT00004807 History of Changes |
Health Authority: | United States: Federal Government |
Rett syndrome neurologic and psychiatric disorders rare disease |
Developmental Disabilities Excitatory Amino Acids Neurotransmitter Agents Rare Diseases Neurodegenerative Diseases Neuroprotective Agents Naphazoline Mental Retardation Child Development Disorders, Pervasive Anti-Obesity Agents Rett Syndrome Heredodegenerative Disorders, Nervous System |
Genetic Diseases, Inborn Guaifenesin Mental Disorders Donepezil Mental Disorders Diagnosed in Childhood Dextromethorphan Genetic Diseases, X-Linked Topiramate Neurologic Manifestations Phenylpropanolamine Neurobehavioral Manifestations Anticonvulsants |
Respiratory System Agents Neurotransmitter Agents Molecular Mechanisms of Pharmacological Action Physiological Effects of Drugs Excitatory Amino Acid Agents Neurodegenerative Diseases Neuroprotective Agents Child Development Disorders, Pervasive Heredodegenerative Disorders, Nervous System Pathologic Processes Mental Disorders Therapeutic Uses Syndrome Mental Disorders Diagnosed in Childhood Genetic Diseases, X-Linked |
Topiramate Neurobehavioral Manifestations Excitatory Amino Acid Antagonists Disease Nervous System Diseases Protective Agents Pharmacologic Actions Mental Retardation Anti-Obesity Agents Rett Syndrome Genetic Diseases, Inborn Dextromethorphan Neurologic Manifestations Mental Retardation, X-Linked Antitussive Agents |