What is CDC doing about DBMD?

DBMD is a devastating condition for affected individuals and their families. In order to provide families with better services, public health departments and health care providers need better information about DBMD, including:

• How common is DBMD?

• Is it equally common in different racial and ethnic groups?

• What are the early signs and symptoms of DBMD?

• Do factors such as the type of care received or the type of gene changes affect the severity or course of DBMD?

• What medical and social services are families receiving?

• Do different populations receive different care?

CDC is working with partners in state health departments and universities to answer these and other questions about DBMD, using traditional epidemiologic research approaches. For more information on CDC activities related to DBMD,

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet):

Fact Sheet

CDC is working with researchers in Arizona, Colorado, Iowa, and western New York State to set up surveillance systems for Duchenne/Becker muscular dystrophy (DBMD). The goal of the project is to identify all DBMD patients in the areas by using information from different sources, such as clinic medical records and hospital records. Information about each child’s treatments and how he is doing medically will be collected from his medical records. Because many DBMD patients are seen in Muscular Dystrophy Association (MDA) clinics, the researchers are working closely with the MDA clinics in their states. In addition, the researchers will be searching for DBMD patients through other neuromuscular clinics, emergency rooms, pathology laboratories, orthopedists, and other muscular dystrophy associations to ensure that all patients with DBMD are included in the project. The states have worked together to develop a common system to be used in finding patients and collecting information. Families who are identified in these areas will be invited to participate in interviews with public health representatives to provide information related to DBMD that might not be found in the medical records.

The types of information that will be collected include basic demographic information, the types of treatments that have been received, the types of clinics that the care was received in, and any medical complications associated with DBMD. Information will be collected from medical records and interviews on a regular basis.

The data gathered in this project will be pooled anonymously (without names) to answer questions such as:

How common is DBMD?

• Is it equally common in different racial and ethnic groups?

• What are the early signs and symptoms of DBMD?

• Do factors such as the type of care received or the type of gene changes affect the severity or course of DBMD?

• What medical and social services are families receiving?

• Do different populations receive different care?

The principle investigators for MD STARnet are:

Arizona:
Christopher Cunniff, MD and F. John Meaney, PhD
Department of Pediatrics
University of Arizona College of Medicine
1501 N. Campbell Avenue
Tucson, AZ 85724-5073

Colorado:
Lisa Miller, MD, MSPH
Colorado Responds to Children with Special Needs
Colorado Department of Public Health and Environment
4300 Cherry Creek Drive South
Denver, CO 80246

Dennis Matthews, MD
Children’s Hospital
1056 E 19th Ave
Denver CO 80218

Iowa:
Paul Romitti, PhD
The University of Iowa
C21-E GH, 200 Hawkins Drive
Iowa City, IA 52242

Kathy Mathews, MD
The University of Iowa
College of Medicine
Department of Pediatrics
200 Hawkins Drive
Iowa City, IA 52242

New York:
Charlotte Druschel, MD, MPH
Congenital Malformations Registry
New York State Dept of Health
527 River Street, Room 200
Troy, NY 12080

Family Needs Assessments:
CDC is sponsoring two projects to identify the service needs of families with DBMD. The results of these projects will help health departments and health care providers understand the needs of families with DBMD so that the necessary resources can be identified.

National Initiative for Families with Duchenne (NIFD): CDC is working with researchers at the Children’s National Medical Center in Washington, D.C., on a survey of parents of children with DBMD in the United States and Puerto Rico. The researchers on this project plan to ask parents of children with DBMD about how they have adapted to having a child with DBMD, what services they have access to, what services they need, what barriers exist in getting the needed services, and their attitudes toward newborn screening for DBMD. The survey will include a large number of families from diverse backgrounds, and the results will help state health departments determine how to improve services for families with DBMD. In addition, because some of the families in this survey were originally diagnosed through pilot newborn screening projects, the researchers will determine whether or not newborn screening had an impact on the families’ adjustment to the condition, utilization of services, and quality of life. This information will be helpful to state health departments in considering the potential use of newborn screening for DBMD in the future.

The principal investigator for NIFD is:

Eric Henricson, MPH
Children’s Hospital
Center for Genetic Medicine Research
111 Michigan Avenue, NW
Washington, DC 20010

Needs of Families and Patients with Muscular Dystrophy (NFPMD): CDC is working with researchers at the University of Iowa on a project to identify the needs of families with DMD and childhood-onset BMD. The researchers are interviewing eligible families in Iowa, specifically, young men with DMD or childhood-onset BMD who are older than 14 years of age, and their parents, brothers, and sisters. The goals of the project are to (1) identify and prioritize the needs of patients and families with DMD and childhood-onset BMD at different times in the disease process; (2) identify factors that influence the availability of services and resources for families; (3) determine how the diagnosis of DMD and childhood-onset BMD affects the patient and his immediate family; and (4) determine family attitudes toward newborn screening.

The principal investigators for NFPMD are:

Paul Romitti, PhD
The University of Iowa
C21-E GH, 200 Hawkins Drive
Iowa City, IA 52242

Kathy Mathews, MD
The University of Iowa
College of Medicine
Department of Pediatrics
200 Hawkins Drive
Iowa City, IA 52242

Both the NIFD and NFPMD projects are looking at the needs of families with DBMD and ways to improve services for families. The approach of the NIFD study is to survey a large number of families. This approach has several advantages. For example, large studies tend to include people from lots of different backgrounds, so the conclusions are more likely to apply to everyone instead of just a subset of the population. Also, larger studies tend to give more reliable results. However, it is limited in the type of data that can be collected. That is, most survey questions are “yes/no” questions or multiple choice, and surveys are not designed to ask “why” questions. This approach is called a “quantitative” approach.

The NFPMD project is using an interview approach. This approach has the advantage of allowing families to share any kind of information that they feel is relevant. They are not limited to the specific questions that are asked. Using this approach, researchers often find out important information that they might not have asked about otherwise, but because of the time involved this approach is usually limited to a smaller group of people. This type of research project is called a “qualitative” approach.

Usually, the best information can be collected by a combination of “quantitative” and “qualitative” approaches, so these two studies combined should result in a lot of information that can be used by health departments, clinics, and physicians to make sure that families’ needs are being met.

Cardiac Health in Female Carriers of DBMD:
Because females have two X chromosomes, they usually do not get the symptoms of X-linked mutations that they carry. However, it is becoming apparent that female carriers of several X-linked conditions do indeed have clinical symptoms. Females who are DBMD carriers (whether or not they are manifesting) (note: link to “DBMD mutation in females” section for explanation) later in adult life sometimes develop heart problems that are characterized by shortness of breath or an inability to do moderate exercise. The chance that a female carrier will develop heart problems is not known. However, such heart problems can be serious and life threatening. While there is no cure, a number of medications are available that can help reduce the effects of these heart problems.

The goal of this project is to use a large-scale, mailed, self-completed survey to collect information about the knowledge, beliefs, and behaviors of female DBMD carriers toward cardiac health care. The objectives of the project are: (1) to identify factors or barriers that influence use of preventive cardiac health care in female carriers of DBMD and (2) to develop successful and innovative strategies that will increase preventive cardiac health care in this population. At the current time, there are no specific recommendations for female carriers of DBMD regarding cardiac testing and treatments, so the goals of this project are to identify ways to promote the recommendations once they are available. It is likely that the results of this study can also be used to improve health messages to carriers of other X-linked conditions. This project will be carried out collaboratively by CDC and a research organization to be identified.