Study of the Pathogenesis of Rett Syndrome | NCT00004807

Studies
Study of the Pathogenesis of Rett Syndrome

NCT00004807

Sponsor

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

Status

Completed

Last Update Posted

Jun 24, 2005Estimated

Enrollment

120

Phase

Not Applicable

Conditions

Rett Syndrome

Interventions

dextromethorphan
topiramate
Donepezil

Countries

Not provided

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
JHUSM-KKI-87021203

Status Module

Record Verification Date

Dec 1998

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 1995

Primary Completion Date

Not provided

Completion Date

Not provided

First Submitted Date

Feb 24, 2000

First Submission Date that Met QC Criteria

Feb 24, 2000

First Posted Date

Feb 25, 2000Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 23, 2005

Last Update Posted Date

Jun 24, 2005Estimated

Sponsor/Collaborators Module

Responsible Party, by Official Title

Not provided

Lead Sponsor

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

Collaborators

Name	Class
Johns Hopkins University	OTHER

Description Module

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.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

120

Eligibility Module

Eligibility Criteria

PROTOCOL ENTRY CRITERIA:

Rett syndrome

Diagnosis confirmed on study

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

0 Years

Maximum Age

45 Years

Standard Ages

ChildAdult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Sakkubai Naidu	Johns Hopkins University	Study Chair

Locations

Not provided

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
1658685	Background	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.
8338347	Background	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.

ID	Term
D015518	Rett Syndrome
D009461	Neurologic Manifestations
D001523	Mental Disorders
D035583	Rare Diseases

ID	Term
D038901	X-Linked Intellectual Disability
D008607	Intellectual Disability
D019954	Neurobehavioral Manifestations
D009422	Nervous System Diseases

ID	Term
D003915	Dextromethorphan
D000077236	Topiramate
D000077265	Donepezil

ID	Term
D009019	Morphinans
D053610	Opiate Alkaloids
D000470	Alkaloids
D006571	Heterocyclic Compounds

Name	Type	Description	Arm Group Labels	Other Names
dextromethorphan	Drug
topiramate	Drug
Donepezil	Drug