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Study of the Pathogenesis of Rett Syndrome

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00004807
First Posted: February 25, 2000
Last Update Posted: December 9, 2005
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborator:
Johns Hopkins University
Information provided by:
Office of Rare Diseases (ORD)
  Purpose

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
Rett Syndrome Drug: dextromethorphan Drug: topiramate Drug: Donepezil

Study Type: Interventional
Study Design: Primary Purpose: Treatment

Resource links provided by NLM:


Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment: 120
Study Start Date: January 1995
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.

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 45 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

PROTOCOL ENTRY CRITERIA:

Rett syndrome

Diagnosis confirmed on study

  Contacts and Locations
Information from the National Library of Medicine

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


Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Johns Hopkins University
Investigators
Study Chair: Sakkubai Naidu Johns Hopkins University
  More Information

Publications:

ClinicalTrials.gov Identifier: NCT00004807     History of Changes
Other Study ID Numbers: 199/12009
JHUSM-KKI-87021203
First Submitted: February 24, 2000
First Posted: February 25, 2000
Last Update Posted: December 9, 2005
Last Verified: December 1998

Keywords provided by Office of Rare Diseases (ORD):
Rett syndrome
neurologic and psychiatric disorders
rare disease

Additional relevant MeSH terms:
Syndrome
Rett Syndrome
Disease
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Donepezil
Dextromethorphan
Topiramate
Cholinesterase Inhibitors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action
Cholinergic Agents
Neurotransmitter Agents
Physiological Effects of Drugs
Nootropic Agents
Anticonvulsants
Neuroprotective Agents
Protective Agents
Anti-Obesity Agents
Antitussive Agents
Respiratory System Agents
Excitatory Amino Acid Antagonists
Excitatory Amino Acid Agents