Research and Tracking

MD STARnet

We at the Centers for Disease Control and Prevention (CDC) support the Muscular Dystrophy Surveillance Tracking and Research Network, known as MD STARnet. MD STARnet is collecting critical information about muscular dystrophy that will improve the care for people living with and affected by the condition.
Duchenne muscular dystrophy and Becker muscular dystrophy (together referred to as DBMD) are caused by a change in the same gene and might be studied together. This program is unique because it comprises the only research data captured on all people with DBMD who live in certain areas of the United States (Arizona, Colorado, Georgia, Hawaii, Iowa, and western New York).
The information that is being collected can help answer questions such as:

How many people have DBMD?
What is the usual course of DBMD?
What kinds of medical services are people who have DBMD receiving?
Are there treatments that can change the usual course of the disease?
What are these treatments and how helpful are they?
What causes delays in diagnosis?
How long do people who have DBMD live?

In 2012, MD STARnet is including data collection on other muscular dystrophies beyond DBMD.

What We Have Learned

Based on MD STARnet data collected in 2007:

Information from four states in MD STARnet showed the number of people with DBMD as 1 in 5,600 to 1 in 7,700 (0.3 to 1.8 persons per 10,000) ¹ males 5 through 24 years of age. The average age at which the first signs of DMBD appeared was 2.5 years. Despite improvements in diagnostic testing, the average age of diagnosis was 5 years of age (a figure that has not changed in 20 years).²
Since the early 1990s and the discovery of the mutation in the DBMD dystrophin gene, there has been an increase in using genetic tests to diagnose DBMD and a decrease in using muscle samples.³
About half of people in the MD STARnet program reported having been treated with steroids at least once and there was an increase in the use of steroids reported among 5-to-9-year-olds.⁴ Steroids are prescribed to slow the progression of muscle weakness.

Future Information That MD STARnet Might Address

In the future, data collected through the MD STARnet system might tell researchers:

The number of people affected by muscular dystrophies other than DBMD.
Whether DBMD is equally common among different racial and ethnic groups.
The social services families are receiving.
What it is like to live with DBMD, and the needs of people with DBMD as they grow older.
The quality of life experienced by those with muscular dystrophies.
The challenges and successes faced by those with muscular dystrophy who are transitioning from adolescence to adulthood, including use of health care services, employment status, and education level attained.

Barriers to Genetic Testing

Genetic tests are available to diagnose DBMD; however, some people who have the disease are never tested. Having genetic testing results is especially important for people wanting to participate in clinical trials. Investigators administering clinical trials can enroll individuals only with specific types of genetic mutations.
In addition to funding MD STARnet, CDC has funded research to learn more about the issues preventing earlier diagnosis and genetic testing for DBMD. These pilot programs are designed to answer questions such as:

Do racial, ethnic, and socioeconomic differences impact genetic testing practices?
Why do some people get genetic testing and others do not?
What are the barriers to early diagnosis and genetic testing?

Learn more about genetics »

Newborn and Infant Screening

Soon after birth, all babies born in the United States are checked for certain medical conditions. This is called newborn screening. Finding these conditions soon after birth can help prevent some serious problems, such as brain damage, organ damage, and even death. Each state decides which conditions are tested among newborns.
It is possible to test for DMD at birth, but currently it is not part of newborn screening for a number of reasons, most notably the lack of a proven intervention that must be administered very early in life to prevent death and disability. To further explore the benefits of DMD screening, CDC funded a DMD newborn screening study and a DMD infant screening study. These two studies were designed to answer questions such as:

Can parents understand the benefits and potential problems of screening their baby for DMD?
Do parents have enough time for and information about screening to make informed decisions on whether they want their child screened?
What are parents’ experiences when going through the screening process and receiving their child’s results?
Do parents and doctors think it is a good idea to offer the tests?
Can an infant screening program be done in a pediatrician’s office?
What are the reasons to screen or not screen for DMD among newborns and older infants?

What We Have Learned About Newborn and Infant Screening

Information from the DMD newborn screening study currently is being compiled. The goal of this work is to identify ethical issues for newborn screening of a condition that currently does not have a cure. A total of 264 male infants (all of whom were 2 days or younger in age) were screened in pediatric offices in metropolitan Atlanta. None were found to have DMD, and there were no false positive results. Among infants tested at about 12 months of age, preliminary results from the DMD infant screening study showed that about 78% of parents supported optional DMD screening. About half of parents thought screening should occur during the newborn period and half thought it should occur later during infancy.
About 91% of pediatricians were in favor of screening.
Parents can be adequately informed of the risks and benefits of screening when receiving information at the pediatrician’s office. Over 90% of parents felt they understood the information they received on DMD screening. About 75% of parents correctly answered three of five questions testing their knowledge of DMD screening.

Future Projects From This Research

The DMD newborn screening study, which was done in four Ohio hospitals, was extended statewide through other funding and will, in future, include information from many hospitals in the state. Publication of the original research is pending.
The publication of a paper on parent and provider experiences, the informed consent process, and the feasibility of doing screening in pediatric offices.
The publication of an article comparing parental experiences from the newborn and infant screening programs.

References

Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007. MMWR Morb Mortal Wkly Rep.Oct 16 2009;58(40):1119-1122.
Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, et al. Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr 2009 Sept;155(3):380-5.
Cunniff C, Andrews J, Meaney FJ, Mathews KD, Matthews D, Ciafaloni E, et al. Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. J Child Neurol. Apr 2009;24(4):425-430.
Matthews DJ, James KA, Miller LA, Pandya S, Campbell KA, Ciafaloni E, et al. Use of corticosteroids in a population-based cohort of boys with Duchenne and Becker muscular dystrophy. J Child Neurol. 2010 Nov;25(11):1319-24. Epub 2010 Mar 5.