The Current Policies Surrounding Duchenne Muscular Dystrophy

Specialty Pharmacy Times, March/April 2016, Volume 7, Issue 2

Although it remains to be seen which medications will be approved to treat Duchenne muscular dystrophy, lawmakers have tried to make the path easier.

DUCHENNE MUSCULAR DYSTROPHY is a genetic disorder characterized by progressive muscle degeneration and weakness.

It impacts fewer than 200,000 annually in the United States and is 1 of 9 types of muscular dystrophy that occurs primarily in boys. The cause “is a mutation in a gene called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy (DMD) do not make the dystrophin protein in their muscles. DMD is inherited in an X-Linked recessive fashion; however, it may also occur in families without a known family history of the condition.”1

As this disease progresses, children can lose the ability to walk by their early teens. DMD, which can cause patients to lose respiratory function and can cause severe cardiac issues, can be fatal by the time a person enters their 20s or early 30s. French neurologist Guillaume Benjamin Amand Duchenne first described the disease in the 1860s.

Until the 1980s, however, information was limited surrounding the cause of any form of muscular dystrophy. Recent advances in cardiac and respiratory care have improved life expectancy to allow individuals to live beyond their early teens to enter young adulthood, with some cases of men living into their 40s and 50s.2

While there are no FDA-approved therapies for Duchenne, recently the path to approval has grown increasingly rocky. BioMarin Pharmaceutical was the first to have the FDA reject its treatment called drisapersen. Sarepta Therapeutics received a critical initial review from the FDA, but Sarepta’s drug eteplirsen will receive a final adjudication by the FDA no later than this coming May.

PTC Therapeutics’ ataluren has become the latest drug whose application was rejected by the FDA. However, Tarix Orphan, Catabsis Pharmaceutical, and Marathon Pharmaceuticals are also working on drugs with a potential solution to DMD. While it remains to be seen which medications will be approved to treat DMD, lawmakers have tried to make the path easier.

Landmark legislation affecting Duchenne was enacted in December 2001. Public Law 107-84 titled, the Muscular Dystrophy Community Assistance, Research and Education Amendments of 2001, was the first Congressional bill that targeted muscular dystrophy.

The highlights of the law are listed below:

  • Mandate that the director of the National Institutes of Health, in coordination with the directors of the National Institute of Neurological Disorders and Stroke, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Institute of Child Health and Human Development, and other national research institutes, as appropriate, expand and intensify programs with respect to research and related activities concerning Duchenne, myotonic, facioscapulohumeral, and other forms of muscular dystrophy (MD).
  • Require the establishment of MD Centers of Excellence.
  • Require the secretary of Health and Human Services (HHS) to contract with the Institute of Medicine to study centers at NIH, and make recommendations when their establishment is appropriate.
  • Create an MD interagency coordinating committee that is required to 1) develop a plan for conducting and supporting research and education on MD through the national research institutes, and 2) submit a biennial report to Congress describing research activities.
  • Establish a program in which samples of tissues and genetic materials, that are of use in research on MD, be donated, collected, preserved, and made available for such research.
  • Require the secretary of HHS to provide a means of public input on existing and planned MD research activities.
  • Require the Centers for Disease Control and Prevention to carry out activities with respect to Duchenne MD epidemiology.3

This act was later amended via the enacted Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2014. Public Law 113-166 established the following:

  • Amends the Public Health Service Act to revise the muscular dystrophy research program of the National Institutes of Health (NIH).
  • Expands the range of forms of muscular dystrophy included within the program. Requires the research conducted through Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers to include cardiac and pulmonary function research. Requires the Director of NIH to ensure the sharing of data between such centers.
  • Revises the composition of the Muscular Dystrophy Coordinating Committee (MDCC) to include the Social Security Administration and the United States Administration for Community Living.
  • Requires the MDCC to meet at least two times per year. Requires the MDCC Action Plan to provide for (1) health economic studies to demonstrate the cost-effectiveness of providing independent living resources and support to patients with various forms of muscular dystrophy, (2) studies to determine optimal clinical care interventions for adults with various forms of muscular dystrophy, and (3) the development of clinical interventions to improve the health of adults with various forms of muscular dystrophy.
  • Requires the secretary of HHS, in carrying out epidemiological activities regarding Duchenne and other forms of muscular dystrophy, to ensure that data are representative of all affected populations and shared in a timely manner.
  • Amends the Muscular Dystrophy Community Assistance, Research, and Education Amendments of 2001 to authorize the secretary to cooperate with professional organizations and the patient community in the development and issuance of care considerations, including acute care considerations, for pediatric and adult muscular dystrophy patients.
  • Authorizes the Secretary, in developing and updating care considerations, to incorporate strategies specifically responding to the findings of the national transitions survey of minority, young adult, and adult communities of muscular dystrophy patients.4

While these laws have advanced the cause, the question is what other types of legislation are currently in Congress that can help?

  • H.R. 2685 titled the Department of Defense Appropriations Act, 2016 has an amendment sponsored by William Keating (D-MA) which offers to reduce funding for Operation and Maintenance, Defense-Wide by $1 million and increases funding for the Defense Health Program by a similar amount in order to address research and development for Duchenne muscular dystrophy.
  • S. 2030: titled Advancing Targeted Therapies for Rare Disease Act of 2015 sponsored by Senator Michael Bennet (D-CO), proposes to allow the sponsor of an application for the approval of a targeted drug to rely upon data and information with respect to such sponsor’s previously approved targeted drugs.

So what’s next? While there is still much work to do on the issue of curing DMD, it seems encouraging that rare diseases such as this are being discussed more openly in order to find a cure. As our science continues to improve, I am optimistic that a cure will eventually be found. The only question is once there is a cure, will the payer and manufacturer communities come together on the appropriate price to charge that balances the need for patient access. SPT

RON LANTON III, ESQ is president of True North Political Solutions, LLC. He has over 20 combined years of government affairs and legal experience. This includes activities on the municipal, state, and federal levels of government. Most recently, he worked for a pharmaceutical wholesaler where he created and oversaw the company’s government affairs department, served as their exclusive lobbyist, and advocated for the company’s various health care customers. Prior to that, Ron worked at a government affairs consulting firm in Arlington, Virginia, where he focused on health care, energy, commerce, and transportation issues. He has also clerked for a federal magistrate, was appointed as a municipal commissioner on environmental issues, and has served as consultant to Wall Street firms on financial issues. He has been a featured industry speaker on issues such as pharmaceutical safety and health care cost containment. Ron earned his juris doctor from The Ohio State University Moritz College of Law and a bachelor of arts from Miami University of Ohio. He is also a “40 Under 40” award recipient. He is admitted to practice law in New York, Illinois, and the District of Columbia.