A panel of experts explored issues related to newborn screening for Duchenne muscular dystrophy
Update (Feb. 8, 2013): Longtime MDA grantee Jerry Mendell, who directs the Center for Gene therapy at Nationwide Children's Hospital in Columbus, Ohio, published Report of MDA Muscle Disease Symposium on Newborn Screening for Duchenne Muscular Dystrophy in Muscle & Nerve, Feb. 8, 2013.
The report, available for a fee, summarizes the progress made in newborn screening for DMD, including improvements in newborn screening methods, introduction of a two-tier system of newborn screening, and treatment advances in exon skipping and glucocorticoids.
Newborn screening for Duchenne muscular dystrophy (DMD) was the topic of discussion and debate at MDA's Muscle Symposium on Sept. 11-12, 2012.
Newborn screening is the widespread practice of screening babies for certain diseases that can be detected at birth, and in which an early treatment or intervention is available and definitively linked with better outcomes.
The Muscle Symposium, held in Washington, D.C., brought together a blue-ribbon panel of physicians and researchers, as well as representatives from patient advocacy groups, federal agencies, professional societies, state health departments and the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC). The goal of the committee was to explore and evaluate the issues surrounding newborn screening for DMD.
Among the topics discussed were the feasibility of newborn screening for DMD in the United States; the pros and cons of potential future technology that may affect newborn screening; the DMD diagnostic process; and whether or not DMD is ready for nomination to the uniform panel of diseases recommended for newborn screening by the SACHDNC.
"With new DMD therapies on the horizon, MDA is pleased to have provided a platform for a focused discussion of the various issues involved in the implementation of a newborn screening program for DMD," said MDA Vice President of Research Sanjay Bidichandani. "This will eventually make it possible for every person with DMD to have the option of starting therapy early in life — including prior to the onset of symptoms."
Newborn screening has been a part of state-sponsored public health programs in all 50 states since the 1970s. The diseases that make up newborn screening panels vary from state to state.
SACHDNC was established in 2001 and charged with making systematic, evidence-based and peer-reviewed recommendations for diseases that should be screened for at birth. This list of diseases comprises the uniform panel that states consider when making decisions about which diseases they will include in their newborn screening panels.
For example, acid maltase deficiency (AMD, or Pompe disease), a neuromuscular disease in MDA’s program that can manifest from birth to adulthood, is included on the uniform panel due to the development (with MDA support) of two drugs, Myozyme and Lumizyme, that treat the disease in infants, children and adults. Currently, several states have decided to include Pompe screening on their panels.
MDA has been working with policymakers to investigate the potential of expanding newborn screening panels to include those diseases for which therapy development is proceeding rapidly, such as DMD.
Learning early in life that a child has a neuromuscular disease would allow any potential treatments to begin as soon as possible (even an experimental treatment, with parental consent), before the disease has done irreversible damage to muscles. Early diagnosis also could inform parents’ future reproductive choices, and eliminate the long and frustrating “diagnostic odyssey” (search for a diagnosis) that many families undergo.
Although the symposium focused on newborn screening in DMD, the rich discussion is expected to help shape MDA's position and policy with regard to newborn screening in other neuromuscular diseases as well.
Speakers at the Sept. 11-12 symposium had much to contribute to the discussion of newborn screening in DMD.
Jerry R. Mendell and Michele A. Lloyd-Puryear co-chaired the event. Mendell, a longtime MDA grantee, directs the Center for Gene Therapy at Nationwide Children's Hospital and is a professor at Ohio State University, both in Columbus. Lloyd-Puryear is the senior medical and scientific adviser at the National Institute of Child Health & Human Development (NICHD), part of the National Institutes of Health (NIH), in Bethesda, Md.
R. Rodney Howell — a pediatrician, geneticist and longtime advocate for newborn screening — provided an overview of newborn screening and the diseases included on the uniform panel. (Howell is also the MDA chairman of the Board of Directors.)
Alex Kemper, a pediatrics and primary care physician at Duke Health Center in Durham, N.C., talked about traditional screening criteria; challenges to newborn screening including detection of carrier status and late-onset conditions; determining whether benefits gained from newborn screening help families, affected individuals or both; limited public health resources; parental knowledge and the role of informed consent; and differences in the spectrum of disease that may be identified through screening versus cases of the disease that may be detected clinically.
Kemper also discussed some reasons given in the past for not recommending the inclusion of a particular disease on the uniform panel. These include:
Amy Brower with the American College of Medical Genetics and Genomics discussed the addition of severe combined immunodeficiency (SCID) to the uniform panel, approved in 2010. Craig McDonald, a physical medicine and rehabilitation specialist at the University of California, Davis, briefed committee members on the DMD disease process; and Francesco Muntoni, a professor of pediatrics at University College London in the United Kingdom (also an MDA grantee), discussed current treatments for DMD.
Mendell reviewed his recently developed strategy for newborn screening in DMD — a process that uses dried blood spots derived from a heel stick performed at birth on all newborns. A pilot project conducted in Ohio that screened 37,749 newborns using Mendell's process identified six newborn boys with DMD. (To learn more, see Podcast Explores Newborn Screening for DMD, Quest News Online, May 1, 2012.)
Robert Weiss, professor of human genetics at the University of Utah, and Madhuri Hegde, associate professor and scientific director at Emory University in Atlanta (also a current MDA grantee), discussed current and future DNA testing methods that may impact newborn screening in the near future.
MDA is conducting a survey designed to assess the experiences of parents in the United States whose babies underwent newborn screening at the time of birth.
The MDA Newborn Screening Survey will help the Association learn more about parents' thoughts regarding the newborn screening processes that they experienced when their children were born, and the factors they consider important in a neuromuscular disease newborn screening process.
All parents of children — with or without muscle disease — who were born in the United States and who underwent newborn screening are encouraged to respond to the survey located on the MDA website.
For background information on newborn screening, see:
The symposium marked the last in a series of four MDA symposia scheduled for 2012, each of which focused on a particular aspect of disease process or therapy development for the neuromuscular diseases in MDA’s program.
MDA’s symposium series is designed to bring together the world's foremost experts to tackle cutting-edge issues in neuromuscular disease research.
The Association's 2012 symposium series was launched May 17, 2012, in Philadelphia, with the MDA-AFM Gene Therapy Symposium. Held in conjunction with the 2012 meeting of the American Society of Gene & Cell Therapy, this examination of challenges in developing gene therapy for neuromuscular disease was jointly sponsored by MDA and the Association Française Contre les Myopathies (French Association Against Myopathies).
At MDA's Neuron Symposium, held May 22, 2012, in Tucson, Ariz., researchers discussed the contribution of nervous system support cells called glia to the loss of motor neurons, the nerve cells that are lost in amyotrophic lateral sclerosis (ALS).
MDA's Translational Research Symposium, held June 27, 2012, in New Orleans, provided a forum for stakeholders interested in drug development for rare diseases to examine ways to enhance collaboration and transfer of technology between academia and industry.
MDA's Muscle Symposium marked the last symposium in its 2012 series.