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An African-American boy in a wheelchair talks with a male caregiver

MD STARnet for Surveillance of Muscular Dystrophy

Collecting longitudinal data on 1,000 patients in the Piedmont region of North Carolina

Muscular dystrophies are an extensive group of heterogeneous genetic neuromuscular conditions characterized by muscle weakness and degeneration. The many forms of muscular dystrophy vary by age of onset, severity, and speed of progression, and most types take a heavy toll on thousands of individuals and their families.

Although management of neuromuscular disorders has advanced in recent decades, allowing some patients to live longer, public health researchers have much to learn about the experience of people living with muscular dystrophy across America. Better information on the prevalence and natural history of the disorder—and utilization of services by patients and families—among African-Americans and other minority populations is among the greatest needs.

The National Center on Birth Defects and Developmental Disabilities, part of the federal Centers for Disease Control and Prevention, collects information about patients with muscular dystrophy in different parts of the country as part of its efforts to better understand the impact of the disorder. RTI joined this effort in 2014, conducting surveillance on nine common forms of muscular dystrophy in the Piedmont region of North Carolina.

Tracking a Thousand Patients in the Piedmont Region of North Carolina

We are one of six partners on the muscular dystrophy surveillance project, known as MD STARnet, working in regions from western New York State to Utah and Nevada. Our expertise in public health, genetics, and analytics makes us a natural fit for the research.

MD STARnet is population-based, meaning that it covers virtually all patients with muscular dystrophy in each geographic area. Headquartered in North Carolina, we are ideally positioned to monitor this region, which aligned well with CDC’s goal to ensure that more African-Americans would be included.

We collect and abstract medical records, conduct analyses, and track patients over time. Our region, which encompasses most of North Carolina’s areas of greatest population density, currently includes about 1,000 patients.

By following these patients’ medical visits, genetic status, age at diagnosis, treatments and service utilization, side effects, and other experiences, combined with their demographics, we can learn how long it takes for doctors to diagnose muscular dystrophy, determine which interventions are effective, assess service utilization, and explore many other details about patient care. Earlier phases of MD STARnet research shed light on these and other questions. For example, researchers found that the average age at diagnosis has not improved for many years, and that more providers are prescribing steroids to slow the progression of muscle weakness among patients ages 5 to 9.

We joined MD STARnet as the project received a mandate to collect longitudinal data on not just one, but nine forms of muscular dystrophy. This increased scope and complexity makes the research more challenging, but also more rewarding as many more patients and families may eventually benefit from the lessons learned from our surveillance work.

Better Data to Understand Disparities and Improve Care

The ultimate goal of MD STARnet is to better understand muscular dystrophies and improve care for individuals and their families, now and in the future.

By including a racially and ethnically diverse portion of North Carolina in the study, we will be able to assess whether there are differences in the presentation and progression of the disorder, and evaluate for disparities in access to care for muscular dystrophy patients. Geospatial analysis may help pinpoint environmental factors linked to genetic mutations that can cause different forms of muscular dystrophy.

In all populations, the data will help understand variations in care, delays in diagnosis, and impact of muscular dystrophies and related disorders on patients and families. We hope to combine these insights to help find ways to make muscular dystrophy treatment more effective and equitable.