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Hypertrophic Myopathy in Children

This study has been terminated.
Information provided by:
Children's Healthcare of Atlanta Identifier:
First received: December 19, 2005
Last updated: May 3, 2007
Last verified: May 2007
The purpose of this study is to identify the patients seen in our practice who are seen with Hypertrophic Myopathy diagnosis in order to better understand the presenting characteristics of their disease, the diagnostic testing to determine the diagnosis, the methods used to follow the disease progression and management practices used in caring for these patients. The objectives of this data review will be an analysis to determine if there is a methodology that will foster improved diagnostic speed and accuracy, and determine the best management practices based on outcomes in these patients.

Congenital Disorders

Study Type: Observational
Study Design: Observational Model: Defined Population
Observational Model: Natural History
Time Perspective: Longitudinal
Time Perspective: Retrospective
Official Title: Retrospective Review of Hypertrophic Myopathy in Children

Resource links provided by NLM:

Further study details as provided by Children's Healthcare of Atlanta:

Estimated Enrollment: 75
Study Start Date: January 1996
Detailed Description:

The charts of children followed at Sibley Heart Center of Children's Healthcare of Atlanta will be identified using the Mysis system and screening for the appropriate ICD-9 codes for the types of Hypertrophic Myopathy. These codes include: 425.1, 425.4, 425.7, 425.8, and 425.9. Screening will also be done for known anomalies that are associated with hypertrophic myopathy as seen in some syndromes and metabolic disorders.

Data Collection:

Age at presentation (DOB) History – Prenatal, Family, Current Surgical Procedures Physical Exam results EKG interpretation CXR results Echocardiography results MRI Results Holter monitors results Exercise testing results Radionuclear study results Spiral CT Study results Genetics Testing results Medication usage Enzyme replacement therapy usage Diagnostic laboratory results


A generalized linear model will be performed. Significance will be defined at P≤ 0.05.

Interim monitoring of accumulated data will be performed. One interim analysis will be performed after 3 months of accrual with additional analyses being performed at the end of data collection.

Demographic data will be summarized for all subjects. For each patient summary statistics will include the mean, standard deviation, frequency distribution, minimum, maximum and range.


Ages Eligible for Study:   up to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • seen at Sibley Heart Center, Children's Healthcare of Atlanta
  • diagnosed with Hypertrophic Myopathy

Exclusion Criteria:

  • those who do not meet inclusion criteria
  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: NCT00267462

United States, Georgia
Children's Healthcare of Atlanta
Atlanta, Georgia, United States, 30322
Sponsors and Collaborators
Children's Healthcare of Atlanta
Principal Investigator: Kenneth J. Dooley, MD Sibley Heart Center Cardiology at Children's Healthcare of Atlanta
  More Information Identifier: NCT00267462     History of Changes
Other Study ID Numbers: 05-034
Study First Received: December 19, 2005
Last Updated: May 3, 2007

Keywords provided by Children's Healthcare of Atlanta:
hypertrophic Myopathy

Additional relevant MeSH terms:
Muscular Diseases
Pathological Conditions, Anatomical
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases processed this record on September 21, 2017