Meeting Reports for 2005

Updated February 14, 2005 (historical)

NIH Burden of Muscle Disease Workshop

January 26-27, 2005
NIH Campus, Bethesda, Maryland



The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and the NIH Office of Rare Diseases hosted the "NIH Burden of Muscle Disease Workshop" on January 26-27, 2005, on the NIH campus in Bethesda, Maryland.

The purposes of the workshop were to identify existing data on the costs related to different muscle diseases, particularly the muscular dystrophies, and to recommend strategies for developing new sources of information.

The meeting was held to address Congressional language accompanying the NIH' s 2004 appropriations legislation that directed the NIAMS and other federal components to sponsor such a workshop. Meeting co-chairs Richard Moxley, III, M.D., of the University of Rochester Medical Center, and Richard Lymn, Ph.D., of the NIAMS, as well as colleagues at the NIH and the Centers for Disease Control and Prevention planned and organized the workshop.

Speakers and attendees included muscle disease clinicians and researchers, health economists, epidemiologists, representatives of patient advocacy groups, and patients and their families. There were 100 registered attendees representing universities and institutions across the U.S., Canada and the UK. Also represented were several national and international voluntary health organizations and five agencies of the U.S. Government.


The three main goals of the workshop were:

  1. to identify the economic and psychosocial components of the totality of burden on individuals, families, and societies resulting from chronic muscle diseases, particularly the muscular dystrophies;
  2. to assess the available data and instruments for collecting data on these components; and
  3. to recommend strategies for developing an assessment of the burden of muscle disease appropriate for use in strengthening and prioritizing research and health care activities.

Issues Addressed

Summaries of the speakers' presentations and the discussions that ensued are organized below by panel topic.

  • Disease Burden Data, Uses and Challenges: Introductory speakers discussed how to define muscle disease and described some of the clinical manifestations of the muscular dystrophies that affect the burden of disease. Participants identified several uses of burden-of-disease data, such as tracking population trends, informing health policy and setting research priorities, communicating with the public, and enhancing clinical treatment. The challenges of collecting burden data include the absence of a central authority that sets collection priorities, the cost of data collection, the time required of caregivers and patients to complete surveys, and the need to strike a balance between using detailed disease-specific data sets and broader burden measurements that are more comparable across diseases.

  • Personal and Family Factors: Parents of children with muscular dystrophies discussed the importance of defining "burden" broadly to include the impact of disease on individuals, families, caregivers, employers, and society. They described financial burdens in addition to medical bills, such as parent and patient income lost, the cost of home adaptation and assistive technologies, special schooling, and medications. Speakers also emphasized the need to capture intangible burdens besides mortality and disability, including the anxiety experienced while trying to obtain a correct diagnosis, the emotional impact of disease on parents and siblings, and the isolation experienced by many children with muscular dystrophy.

  • Health and Psychosocial Burdens: Speakers discussed the pros and cons of various quality of life measurement surveys. Several of these surveys have been used specifically for studying people with muscular dystrophy, but most have been used in the context of other pediatric and adolescent populations or other musculoskeletal diseases. Participants raised the issue of study bias, noting that patients and families who are coping well are more likely to participate in studies. The participants found quality of life surveys to be difficult to validate and expressed concern that they may not measure what is truly important to the person with the disease. They also pointed out a conundrum related to survey perspectives, in that parent or caregiver proxy reports often rate the affected individual's quality of life as lower than the individual himself or herself rates it, but patient self-reports often fail to provide a full picture of the disease's impact. Several other speakers shared measurement theories and techniques that might help researchers develop more sensitive and reliable quality of life instruments or modify existing ones.

  • Epidemiologic Measures of Chronic Myopathies: Speakers shared information on existing sources of prevalence, incidence, and other muscular dystrophy statistics, including mortality files, hospital discharge databases, a surveillance study of Duchenne and Becker muscular dystrophies, a national registry for people with myotonic dystrophy and facioscapulohumeral dystrophy, and a cross-regional study of psychosocial function and needs of families affected by muscular dystrophy. Although population-based data sets are useful for capturing all the people in a region who have a condition rather than merely those who utilize clinics and hospitals, speakers noted that the value of any such data based on the International Classification of Diseases-9 (ICD-9) coding system is limited because the different types of muscular dystrophies, having no distinct codes, must be studied as a whole.

  • Cost Measures of Chronic Myopathies: Speakers focused on the necessity of extracting and assessing cost information from multiple data sets when studying a low incidence disease such as muscular dystrophy. Most of the available data sets are large administrative ones, the strengths of which are that many are population-based, inexpensive to access, and vast enough to provide a sample size that offers meaningful information. Some of the noted drawbacks to administrative data sets include their lack of descriptive detail, their limited usefulness due to generic ICD-9 coding, and their inability to capture indirect costs, such as lost caregiver wages. Workshop participants discussed various ways to develop a comprehensive cost picture, including establishing a representative cohort of patients for study, using data from other countries that track utilization costs well for specific types of muscular dystrophy, and using cost-modeling to link administrative data with claims data and patient interview data.

  • Preference-Based Summary Measures of Health: Presenters shared their experiences using several instruments that assign values, or preferences, to health-related factors in order to quantify disease impact. The most widely used measures are Quality Adjusted Life Years (QALYs), a summary of longevity and health-related quality of life, and Disability Adjusted Life Years (DALYs), a time-based population summary of years lost to premature death and years lived in disability. Participants noted that whereas population-based preferences are useful in setting health policy, patient-based preferences are more helpful in guiding clinical treatment. They emphasized that in assessing the muscular dystrophies - characterized by great personal burden but low frequency in the population - it is crucial that patient burden must be adequately represented. Participants noted that no single measure, such as QALYs or DALYs, is suitable for evaluating all the aspects of burden, and they proposed various methods of refining generic measures or initiating preference-based measurement efforts simultaneously with complementary disease-specific efforts.

Closing General Discussion: Panel moderators presented summaries of the opportunities, challenges, and recommendations that emerged from the discussions of their panel topics. Workshop attendees emphasized the importance of (1) modifying available data collection instruments whenever possible to obtain rough data quickly, (2) using a data review and measurement instrument development process that can be replicated by other government agencies, researchers, and groups studying different diseases, and (3) locating funding sources for data-mining and instrument development.

Next Steps

Workshop participants recommended that several working groups be convened to (1) review and develop measurement instruments, especially for quality of life, and (2) explore burden-of-disease survey methodology, with guidance from health economists.

A report summarizing the presentations and discussions that took place at this meeting will be used to plan future burden of muscle disease initiatives.