Study of the Pathogenesis of Rett Syndrome - Tabular View

Tracking Information

First Received Date ^ICMJE

February 24, 2000

Last Updated Date

June 23, 2005

Start Date ^ICMJE

January 1995

Primary Completion Date

Current Primary Outcome Measures ^ICMJE

Original Primary Outcome Measures ^ICMJE

Change History

Complete list of historical versions of study NCT00004807 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Original Secondary Outcome Measures ^ICMJE

Descriptive Information

Brief Title ^ICMJE

Study of the Pathogenesis of Rett Syndrome

Official Title ^ICMJE

Brief 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.

Study Phase

Study Type ^ICMJE

Interventional

Study Design ^ICMJE

Treatment

Condition ^ICMJE

Rett Syndrome

Intervention ^ICMJE

Drug: dextromethorphan
Drug: topiramate
Drug: Donepezil

Study Arms / Comparison Groups

Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Completed

Enrollment ^ICMJE

120

Completion Date

Primary Completion Date

Eligibility Criteria ^ICMJE

PROTOCOL ENTRY CRITERIA:

Rett syndrome

Diagnosis confirmed on study

Gender

Both

Ages

up to 45 Years

Accepts Healthy Volunteers

Contacts ^ICMJE

Contact information is only displayed when the study is recruiting subjects

Location Countries ^ICMJE

Administrative Information

NCT ID ^ICMJE

NCT00004807

Responsible Party

Study ID Numbers ^ICMJE

199/12009, JHUSM-KKI-87021203

Study Sponsor ^ICMJE

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Collaborators ^ICMJE

Johns Hopkins University

Investigators ^ICMJE

Study Chair:

Sakkubai Naidu

Johns Hopkins University

Information Provided By

Office of Rare Diseases (ORD)

Verification Date

December 1998

^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP