Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome - Full Text View

Purpose

OBJECTIVES: I. Evaluate electrocardiographic parameters, including QT and PR intervals and QRS morphology/duration, across clinical stages in patients with Rett syndrome.

II. Characterize abnormalities of cardiac conduction and repolarization. III. Assess arrhythmias, heart rate variability, and autonomic nervous system function in these patients using 24-hour Holter monitoring.

IV. Record events believed to represent seizures with video, electroencephalogram (EEG), and polygraph monitoring in patients who have more than 1 clinical seizure every 5 days.

V. Characterize these events with respect to clinical manifestations, EEG correlates, and other physiologic data.

VI. Determine the frequency of seizures vs. events without electrographic correlates in these patients.

VII. Determine whether Rett syndrome patients have characteristic or unique types of seizures and/or an epileptic syndrome.

Condition

Rett Syndrome

Genetics Home Reference related topics:

familial encephalopathy with neuroserpin inclusion bodies L1 syndrome Rett syndrome

MedlinePlus related topics:

Rett Syndrome Seizures

U.S. FDA Resources

Study Type:	Observational
Study Design:	Screening

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

Estimated Enrollment:	95
Study Start Date:	August 1995
Estimated Study Completion Date:	June 1997

Detailed Description:

PROTOCOL OUTLINE: Patients receive an electrocardiogram at baseline and every 6 months for 3 years. Clinical stage II patients undergo 24-hour Holter monitoring on the same schedule; age-matched controls are tested once.

A group of patients with more than 1 seizure or possible seizure every 5 days undergo 5-day continuous electroencephalogram/polygraphic/video monitoring, with respiratory effort assessment, end tidal carbon dioxide and oxygen saturation levels, and a seizure log.

Eligibility

Genders Eligible for Study:	Female
Accepts Healthy Volunteers:	No

Criteria

Classical Rett syndrome meeting Rett Syndrome Diagnostic Work Group criteria
Age-matched girls without neurologic or cardiac problems entered as controls

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004773

Sponsors and Collaborators

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

Baylor College of Medicine

Investigators


Study Chair:	Daniel G. Glaze	Baylor College of Medicine

More Information

Publications:

Glaze DG. Commentary: the challenge of Rett syndrome. Neuropediatrics. 1995 Apr;26(2):78-80. No abstract available.

Glaze DG, Schultz RJ. Rett Syndrome: Meeting the Challenge of This Gender-Specific Neurodevelopmental Disorder. Medscape Womens Health. 1997 Jan;2(1):3.

Sekul EA, Moak JP, Schultz RJ, Glaze DG, Dunn JK, Percy AK. Electrocardiographic findings in Rett syndrome: an explanation for sudden death? J Pediatr. 1994 Jul;125(1):80-2.

Study ID Numbers:	199/11798, BCM-H2465
First Received:	February 24, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00004773
Health Authority:	United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):

Rett syndrome

neurologic and psychiatric disorders

rare disease

Study placed in the following topic categories:

Developmental Disabilities

Rett syndrome

Rare Diseases

Neurodegenerative Diseases

Mental Retardation

Child Development Disorders, Pervasive

Rett Syndrome

Heredodegenerative Disorders, Nervous System

Genetic Diseases, Inborn

Mental Disorders

Mental Disorders Diagnosed in Childhood

Genetic Diseases, X-Linked

Neurologic Manifestations

Congenital Abnormalities

Neurobehavioral Manifestations

Additional relevant MeSH terms:

Pathologic Processes

Disease

Syndrome

Nervous System Diseases

Mental Retardation, X-Linked

ClinicalTrials.gov processed this record on December 03, 2008

Sponsors and Collaborators:	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Baylor College of Medicine
Information provided by:	Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:	NCT00004773