Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome

This study has been completed.
Baylor College of Medicine
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: February 24, 2000
Last updated: June 23, 2005
Last verified: January 1997

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.

Rett Syndrome

Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:

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.


Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   No
  • Classical Rett syndrome meeting Rett Syndrome Diagnostic Work Group criteria
  • Age-matched girls without neurologic or cardiac problems entered as controls
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00004773

Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Baylor College of Medicine
Study Chair: Daniel G. Glaze Baylor College of Medicine
  More Information

Publications: Identifier: NCT00004773     History of Changes
Other Study ID Numbers: 199/11798  BCM-H2465 
Study First Received: February 24, 2000
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
Rett syndrome
neurologic and psychiatric disorders
rare disease

Additional relevant MeSH terms:
Rett Syndrome
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System
Intellectual Disability
Mental Retardation, X-Linked
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations processed this record on May 22, 2016