Study of the Pathogenesis of Rett Syndrome

Brief Title

Study of the Pathogenesis of Rett Syndrome

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 Type

Interventional

Condition

Rett Syndrome

Intervention

dextromethorphan

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

Drug

Estimated Enrollment

Start Date

January 1995

Eligibility Criteria

        PROTOCOL ENTRY CRITERIA:

        Rett syndrome

        Diagnosis confirmed on study

Gender

All

Ages

N/A - 45 Years

Accepts Healthy Volunteers

No

Contacts

Sakkubai Naidu, ,

Administrative Informations

NCT ID

NCT00004807

Organization ID

199/12009

Secondary IDs

JHUSM-KKI-87021203

Study Sponsor

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

Collaborators

 Johns Hopkins University

Study Sponsor

Sakkubai Naidu, Study Chair, Johns Hopkins University

Verification Date

December 1998