search
Back to results

Study of the Pathogenesis of Rett Syndrome

Primary Purpose

Rett Syndrome

Status
Completed
Phase
Not Applicable
Locations
Study Type
Interventional
Intervention
dextromethorphan
topiramate
Donepezil
Sponsored by
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an interventional treatment trial for Rett Syndrome focused on measuring Rett syndrome, neurologic and psychiatric disorders, rare disease

Eligibility Criteria

0 Years - 45 Years (Child, Adult)All SexesDoes not accept healthy volunteers

PROTOCOL ENTRY CRITERIA: Rett syndrome Diagnosis confirmed on study

Sites / Locations

    Outcomes

    Primary Outcome Measures

    Secondary Outcome Measures

    Full Information

    First Posted
    February 24, 2000
    Last Updated
    June 23, 2005
    Sponsor
    Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
    Collaborators
    Johns Hopkins University
    search

    1. Study Identification

    Unique Protocol Identification Number
    NCT00004807
    Brief Title
    Study of the Pathogenesis of Rett Syndrome
    Study Type
    Interventional

    2. Study Status

    Record Verification Date
    December 1998
    Overall Recruitment Status
    Completed
    Study Start Date
    January 1995 (undefined)
    Primary Completion Date
    undefined (undefined)
    Study Completion Date
    undefined (undefined)

    3. Sponsor/Collaborators

    Name of the Sponsor
    Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
    Collaborators
    Johns Hopkins University

    4. Oversight

    5. Study Description

    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.

    6. Conditions and Keywords

    Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
    Rett Syndrome
    Keywords
    Rett syndrome, neurologic and psychiatric disorders, rare disease

    7. Study Design

    Primary Purpose
    Treatment
    Study Phase
    Not Applicable
    Enrollment
    120 (false)

    8. Arms, Groups, and Interventions

    Intervention Type
    Drug
    Intervention Name(s)
    dextromethorphan
    Intervention Type
    Drug
    Intervention Name(s)
    topiramate
    Intervention Type
    Drug
    Intervention Name(s)
    Donepezil

    10. Eligibility

    Sex
    All
    Minimum Age & Unit of Time
    0 Years
    Maximum Age & Unit of Time
    45 Years
    Accepts Healthy Volunteers
    No
    Eligibility Criteria
    PROTOCOL ENTRY CRITERIA: Rett syndrome Diagnosis confirmed on study
    Overall Study Officials:
    First Name & Middle Initial & Last Name & Degree
    Sakkubai Naidu
    Organizational Affiliation
    Johns Hopkins University
    Official's Role
    Study Chair

    12. IPD Sharing Statement

    Citations:
    PubMed Identifier
    1658685
    Citation
    Wenk GL, Naidu S, Casanova MF, Kitt CA, Moser H. Altered neurochemical markers in Rett's syndrome. Neurology. 1991 Nov;41(11):1753-6. doi: 10.1212/wnl.41.11.1753.
    Results Reference
    background
    PubMed Identifier
    8338347
    Citation
    Reiss AL, Faruque F, Naidu S, Abrams M, Beaty T, Bryan RN, Moser H. Neuroanatomy of Rett syndrome: a volumetric imaging study. Ann Neurol. 1993 Aug;34(2):227-34. doi: 10.1002/ana.410340220.
    Results Reference
    background
    PubMed Identifier
    8403377
    Citation
    Wenk GL, O'Leary M, Nemeroff CB, Bissette G, Moser H, Naidu S. Neurochemical alterations in Rett syndrome. Brain Res Dev Brain Res. 1993 Jul 16;74(1):67-72. doi: 10.1016/0165-3806(93)90084-n.
    Results Reference
    background
    PubMed Identifier
    7607612
    Citation
    Cooke DW, Naidu S, Plotnick L, Berkovitz GD. Abnormalities of thyroid function and glucose control in subjects with Rett syndrome. Horm Res. 1995;43(6):273-8. doi: 10.1159/000184309.
    Results Reference
    background
    PubMed Identifier
    7566454
    Citation
    Naidu S, Hyman S, Harris EL, Narayanan V, Johns D, Castora F. Rett syndrome studies of natural history and search for a genetic marker. Neuropediatrics. 1995 Apr;26(2):63-6. doi: 10.1055/s-2007-979724.
    Results Reference
    background
    PubMed Identifier
    2344026
    Citation
    Naidu S, Hyman S, Piazza K, Savedra J, Perman J, Wenk G, Kitt C, Troncoso J, Price D, Cassanova M, et al. The Rett syndrome: progress report on studies at the Kennedy Institute. Brain Dev. 1990;12(1):5-7. doi: 10.1016/s0387-7604(12)80164-1.
    Results Reference
    background
    PubMed Identifier
    7580176
    Citation
    Casanova MF, Naidu S, Goldberg TE, Moser HW, Khoromi S, Kumar A, Kleinman JE, Weinberger DR. Quantitative magnetic resonance imaging in Rett syndrome. J Neuropsychiatry Clin Neurosci. 1991 Winter;3(1):66-72. doi: 10.1176/jnp.3.1.66.
    Results Reference
    background
    PubMed Identifier
    1385677
    Citation
    Naidu S, Wong DF, Kitt C, Wenk G, Moser HW. Positron emission tomography in the Rett syndrome: clinical, biochemical and pathological correlates. Brain Dev. 1992 May;14 Suppl:S75-9.
    Results Reference
    background
    PubMed Identifier
    8040765
    Citation
    Marcus CL, Carroll JL, McColley SA, Loughlin GM, Curtis S, Pyzik P, Naidu S. Polysomnographic characteristics of patients with Rett syndrome. J Pediatr. 1994 Aug;125(2):218-24. doi: 10.1016/s0022-3476(94)70196-2.
    Results Reference
    background

    Learn more about this trial

    Study of the Pathogenesis of Rett Syndrome

    We'll reach out to this number within 24 hrs