MDA U.S. Neuromuscular Disease Registry

MDA U.S. Neuromuscular Disease Registry

A look at how disease registries can improve quality of life, medical care and treatment for individuals and families with neuromuscular diseases

What is a registry?

A registry is a database of information about individuals diagnosed with a specific disease or condition that enables health care professionals to track or measure a number of health-related or quality-of-life outcomes.

About the MDA U.S. Neuromuscular Disease Registry

In 2013, MDA launched the U.S. Neuromuscular Disease Registry to better understand how neuromuscular diseases develop and progress, and to identify which treatments lead to the best outcomes for individuals and families. Currently, four diseases — amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) — are included in the registry at more than 25 MDA Care Centers across the United States.

The MDA U.S. Neuromuscular Disease Registry collects a wide range of clinical data from individuals seen at MDA Care Centers, including diagnostic tests, clinical measures and medical interventions.

Download the digital version of the Registry Highlights Report.

MDA is uniquely positioned to establish a neuromuscular disease registry. We are the only organization in the neuromuscular disease field that supports multiple neuromuscular diseases and maintains a nationwide network of more than 150 MDA Care Centers that provide multidisciplinary care to more than 40,000 individuals each year.

Goals for the pilot phase of the registry

  • Gain a better understanding of the course of illness for specific neuromuscular diseases.
  • Collect data about genotype-phenotype correlations to allow for better prediction of disease progression based on genetic information.
  • Collect longitudinal data that will allow benchmarking of best clinical practices.
  • Use registry data as a platform to develop and implement a clinical quality improvement program for MDA Care Centers across the country.
  • Provide outcome-related information about MDA Care Centers for families seeking medical care.
  • Establish a database of individuals eligible for clinical trials in neuromuscular diseases and expedite research by enhancing clinical trial recruitment and ultimately accelerating drug development.

Why does the registry include four diseases right now?

The four diseases currently included in the registry (ALS, SMA, DMD and BMD) were chosen for the registry’s pilot project because there were multiple experimental therapies in development, and clinical and research specialists in national working groups had already identified and standardized much of the information that is important to collect in clinical trials. In addition, formal “standards of care” for individuals with these diseases had already been defined, which provided a unique opportunity to demonstrate how the registry could be used to measure the implementation of these care standards and their impact on individual health outcomes.

How is data entered into the MDA registry?

MDA’s registry is a clinician-entered database, which means information is typically entered or uploaded by the physician or a study coordinator as opposed to data being entered by individuals and/or their caregivers or families. MDA’s clinician-entered data is critical in order to identify best practices for clinical care, to gain a better understanding of interventions provided and to track health outcomes.

How will my data be used, and how will you protect families' private information?

Information collected from the registry is to be used for valid scientific research and to further scientific breakthroughs in ALS, SMA, DMD and BMD. All data is saved in a secure database. Data collected from the registry is de-identified: All identifying (personal) information connected to each individual enrolled in the registry is protected and can’t be connected to the clinical data shared with researchers.

Participate in the MDA registry

Participation in the registry is voluntary. An independent committee called an Institutional Review Board (IRB) protects the rights and welfare of participants involved in the registry and ensures all research conducted is held to the highest ethical standards. All participants (or legal guardians) must sign a consent form to participate. To learn more about the MDA U.S. Neuromuscular Disease Registry and to find out if your local MDA Care Center currently participates in the registry, contact us at mdaregistry@mdausa.org.

Use of the registry data to support research

MDA invites researchers to use the registry data to accelerate improvements in drug development and health services research. Requests for access to de-identified data are welcomed from academic investigators, clinicians and industry. Publication and presentation of results from the analyses of MDA registry data are encouraged. Please email mdaregistry@mdausa.org to receive a Request for Data Access Form and the Data and Publication Guidelines.

Highlights of the MDA U.S. Neuromuscular Disease Registry (2013-2016)

Highlights of the MDA U.S. Neuromuscular Disease RegistryThe first report from the pilot phase of the registry is now available for download and contains a list of participating MDA Care Centers and demographics for the patient population participating in this pilot phase. The report also contains disease-specific data including information about diagnosis, genetics, treatments, surgeries, nutrition, ventilation, assistive devices, and clinical trial participation.

Download the digital version of the Registry Highlights Report.