MDA Launches Clinical Neuromuscular Disease Registry

A database of clinical information can be a powerful tool for improving both quality of life and research

Update (Feb. 5, 2013): Authors from the University of Rochester Medical Center, the Muscular Dystrophy Association (MDA), the Cystic Fibrosis (CF) Foundation and the American Academy of Neurology reviewed current approaches for obtaining patient data in Duchenne muscular dystrophy (DMD), and considered how monitoring and comparing outcomes measured across DMD clinics could lead to improved care.

Valerie Cwik, MDA's medical director and executive vice president of research, and Jodi Wolff, MDA's director of clinical services, were among the authors, who found that longevity in cystic fibrosis (a genetic respiratory disorder) increased by almost 33 percent between 1986 and 2010, in part because of a CF registry. They say implementation of such a registry for MDA clinics might provide a similar benefit for DMD. The study titled Can Outcomes in Duchenne Muscular Dystrophy Be Improved by Public Reporting of Data? was published in Neurology, Feb. 5, 2013.

In 2003, the average life expectancy for a person with the genetic lung disease cystic fibrosis was 33 years. But at some cystic fibrosis medical centers, life expectancy was more than 47 years. The Cystic Fibrosis Foundation wanted to know why. Using its national patient registry, the foundation identified which medical centers achieved optimum outcomes, identified the clinical practices that led to those outcomes and then disseminated that information to its national clinical network — improving care for everyone with cystic fibrosis.

Now the Muscular Dystrophy Association is aiming to do the same thing for neuromuscular diseases, with the launch of its neuromuscular disease registry through its national network of 200 clinics.

By collecting data in a registry, MDA hopes to significantly improve survival and quality of life for those with neuromuscular disease, and to help advance clinical trials in these diseases.

What is a registry?

A registry is a database of information — typically about individuals diagnosed with a specific disease or condition — that enables tracking or measuring of any number of health-related or quality-of-life outcomes. Information can be entered by parents, adult patients, clinicians or researchers, and is longitudinal in nature, meaning that it is collected over a long period of time.

MDA’s new clinician-entered registry (in which information is uploaded by the physician or other clinic team member) can result in a better understanding of the interventions provided at each MDA clinic and how those interventions are connected to health outcomes for people with neuromuscular disease.

Why do we need one?

Currently, there’s not sufficient data to know how variations in clinical practice impact outcomes for those living with neuromuscular disease. We like to think that doctors have all the answers to questions about how to best treat neuromuscular diseases. But in reality, experts sometimes differ about the best procedures for measuring current functioning, how often tests should be administered, the appropriate treatments for symptom management and much more.

While we know a lot about how to aggressively treat individuals with neuromuscular diseases and their symptoms, some questions about the best way to provide care remain unanswered.

For example, what is the ideal age for a young child with Duchenne muscular dystrophy (DMD) to begin taking corticosteroids? Research has shown that corticosteroids benefit boys with DMD by prolonging walking and function — but does starting steroids earlier in life lead to more benefits, or more unwanted side effects or both? The answers to these questions are still unknown.

Similarly, some clinics are pulmonary care “experts” and their patients have better outcomes with noninvasive ventilation. What are those clinics doing differently?

To answer these questions — and more — the MDA clinical neuromuscular registry will document the care provided to thousands of people with neuromuscular diseases across the country.

Aiding clinical trials

A neuromuscular registry also has the potential to expedite clinical trials and to make trials more efficient.

For the first time, a national registry will be able to inform the researchers and biopharmaceutical companies interested in neuromuscular research by validating the number of individuals who have a specific genetic mutation.

A registry also makes it possible to quickly disseminate information about clinical trials to potential participants. Easing the burden of clinical trial recruitment makes it easier for companies and researchers to invest in discovering treatments for these rare conditions.

The registry also can help researchers determine if a treatment is having a positive or negative effect. When trial participants have had similar health care and a similar disease course, researchers can more confidently attribute any effects to the drug being tested.

What will a registry do?

MDA clinicians will collect clinical and health-outcome data from individuals with neuromuscular disease, such as information about the types of medical care they’re receiving and their disease progression. (Participation in the registry is completely voluntary for individuals seen in MDA clinics.)

The MDA registry seeks to:

• gain a better understanding of the course of illness for specific neuromuscular diseases;
• collect data about genotype-phenotype correlations (the relationship between genetic mutations and symptoms/disease course) to allow for better prediction of disease progression based on genetic information;
• identify long-term outcomes that highlight best clinical practices;
• provide data that can be used to develop a quality-improvement program for MDA clinics; and
• expedite research by establishing a database of individuals eligible for clinical trials in neuromuscular disorders.

MDA’s registry plans

MDA’s clinical advisory committee, clinical research networks, registry advisory board, and family members and/or people affected by neuromuscular disease have been instrumental in the development of the registry.

The registry will be rolled out in stages, starting with collecting information from individuals with amyotrophic lateral sclerosis (ALS), DMD and spinal muscular atrophy (SMA).

These diseases were chosen to start because there currently are a number of experimental therapies in development that address them, and because government funded working groups have identified and standardized the information that is important to collect in clinical trials for these three diseases. In addition, there are formal “standards of care” for individuals with these diseases, and the registry can help determine to what extent these standards are being implemented and how they affect outcomes.

Expect the registry to officially launch up to 25 MDA clinics by the end of 2012. It will be expanded each year to include additional diseases and MDA clinics.

When your MDA clinic and your disease become a part of the MDA registry, your clinic team will explain the process to you and gain your consent to enter your protected health information into the Web-based registry. No registry information will be collected without your consent.

As development of the registry progresses, MDA will host webinars and other educational initiatives, so stay tuned — there’s much more to come about this exciting new MDA program!

Jodi Wolff is MDA’s director of clinical services and summer camp.