I 

110TH CONGRESS 

2D SESSION H. R. 5265 

To amend the Public Health Service Act to provide for research with respect 

to various forms of muscular dystrophy, including Becker, congenital, 

distal, Duchenne, Emery-Dreifuss facioscapulohumeral, limb-girdle, myotonic, and oculopharyngeal, muscular dystrophies. 

IN THE HOUSE OF REPRESENTATIVES 

FEBRUARY 7, 2008 

Mr. ENGEL (for himself and Mr. BURGESS) introduced the following bill; 

which was referred to the Committee on Energy and Commerce 

A BILL 

To amend the Public Health Service Act to provide for 

research with respect to various forms of muscular dystrophy, including Becker, congenital, distal, Duchenne, 

Emery-Dreifuss facioscapulohumeral, limb-girdle, myotonic, and oculopharyngeal, muscular dystrophies. 

1 Be it enacted by the Senate and House of Representa2 tives of the United States of America in Congress assembled, 

3 SECTION 1. SHORT TITLE. 

4 This Act may be cited as the ‘‘Paul D. Wellstone 

5 Muscular Dystrophy Community Assistance, Research, 

6 and Education Amendments of 2008’’. 


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1 SEC. 2. FINDINGS. 

2 The Congress finds as follows: 

3 (1) The muscular dystrophies are devastating 

4 diseases that have a significant impact on quality of 

5 life—not only for the individual who experiences its 

6 painful symptoms and resulting disability, but also 

7 for family members and caregivers. 

8 (2) DMD is the most common lethal genetic 

9 disorder of childhood worldwide, affecting approxi10 mately 1 in every 3,500 boys born each year around 

11 the globe. It is characterized by a rapidly progressive 

12 muscle weakness that almost always results in death 

13 from respiratory or cardiac failure, typically in the 

14 late teens or twenties. 

15 (3) Myotonic muscular dystrophy is the second 

16 most prominent form of muscular dystrophy and the 

17 type most commonly found in adults affecting an es18 timated 1 in 8,000 people. However, it can affect 

19 people of any age—from birth to old age. Described 

20 as the most variable disease known in medicine, it 

21 is multi-systemic and can cause not only muscle at22 rophy and myotonia, but also serious cardiac, res23 piratory, endocrine, gastrointestinal, skeletal and 

24 central nervous system complications, as well as 

25 problems with the eyes, teeth and hair. As it passes 

26 from one generation to the next, it generally worsens 


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1 with earlier onset. Congenital myotonic muscular 

2 dystrophy is the most severe form of myotonic mus3 cular dystrophy affecting infants and causing severe 

4 cognitive delays. It often causes sudden death; how5 ever, others can live for many years with this slowly 

6 degenerative disorder. 

7 (4) Facioscapulohumeral muscular dystrophy 

8 (referred to in this section as ‘‘FSHD’’) is the sec9 ond most prevalent adult muscular dystrophy and 

10 the third most prevalent muscular dystrophy of men, 

11 women and children. It is inherited genetically and 

12 has an estimated incidence of 1 in 20,000 persons. 

13 Many leading FSHD scientists note that the preva14 lence may be three times higher due to undiagnosed 

15 and misdiagnosed cases. FSHD, affecting between 

16 15,000 to 40,000 persons, causes a lifelong progres17 sive and severe loss of all skeletal muscles gradually 

18 bringing weakness and reduced mobility. It is geneti19 cally transmitted to children, can occur spontane20 ously, and may affect entire families. Persons with 

21 FSHD may also experience hearing loss, vision prob22 lems and respiratory insufficiency; some may become 

23 severely physically disabled and spend decades in a 

24 wheelchair and on a ventilator. FSHD is caused by 

25 a novel epigenetic phenomenon not found in other 


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1 forms of muscular dystrophy and is caused by a con2 traction of repetitive DNA previously thought to be 

3 ‘‘junk DNA’’. The unique epigenetic structure of 

4 FSHD is unprecedented in other muscular dys5 trophies and genetic disorders and demands novel 

6 approaches and new research groups. Understanding 

7 this mechanism will have great benefit to other areas 

8 of biomedical research including cancer and other 

9 disease of epigenetic origin. 

10 (5) Congenital muscular dystrophies represent a 

11 group of distinct diseases, which begin at birth, with 

12 varying severity and involvement of both muscle 

13 strength and brain. These diseases often lead to pre14 mature infant death, or severely disabled young chil15 dren who require 24-hour care given their develop16 mental delay compounded by muscle weakness. 

17 Other children live to young adulthood and typically 

18 require the use of a wheelchair for mobility. 

19 (6) Forms of muscular dystrophy affecting chil20 dren and adults include Becker, congenital, distal, 

21 Duchenne, Emery-Dreifuss, facioscapulohumeral, 

22 limb-girdle, myotonic, and oculopharyngeal muscular 

23 dystrophies. The limb-girdle muscular dystrophies 

24 are of 15 known different types. 


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1 (7) Each of the muscular dystrophies, though 

2 distinct in progressivity and severity of symptoms, 

3 has a devastating impact on hundreds of thousands 

4 of children and adults throughout the United States 

5 and worldwide, as well as imposes severe physical 

6 and economic burdens on those affected. In many of 

7 the muscular dystrophies, there are associated med8 ical problems arising from pulmonary issues, res9 piratory insufficiency, cardiomyopathy, which in 

10 many cases is the cause of death for persons with 

11 muscular dystrophy. 

12 (8) In the 5 years since enactment of the Mus13 cular Dystrophy Community Assistance, Research 

14 and Education Amendments of 2001 (MD–CARE 

15 Act) and due directly to the momentum established 

16 by the MD–CARE Act, progress has been made in 

17 the battle against the Muscular Dystrophies. 

18 (9) Investments made by the Federal Govern19 ment as a result of the MD–CARE Act include the 

20 creation of the MD Coordinating Committee 

21 (MDCC), the development of the MDCC Action 

22 Plan, expansion of the NIH research portfolios, es23 tablishment of 6 Paul D. Wellstone Muscular Dys24 trophy Cooperative Research Centers (co-funded, in 

25 part, by a national non-profit health organization), 


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1 development of the Muscular Dystrophy Surveil2 lance, Tracking and Research Network (MD 

3 STARnet), and the launch of a comprehensive edu4 cation and outreach initiative. 

5 (10) In the past few years, the NIH program 

6 in translational research in muscular dystrophy has 

7 grown significantly and funded a number of large8 scale projects to further the development of thera9 pies for muscular dystrophy. As part of this pro10 gram, the National Institute of Neurological Dis11 orders and Stroke (NINDS) and the National Insti12 tute of Arthritis and Musculoskeletal and Skin Dis13 eases (NIAMS) of the National Institutes of Health 

14 (NIH) awarded a $15.4 million, five-year cooperative 

15 agreement to develop new small molecule drugs for 

16 the treatment of Duchenne muscular dystrophy 

17 (DMD) and potentially other forms of muscular dys18 trophy as well. The project is a unique research col19 laboration between private, public, and non-profit 

20 partners to build upon previous research and dis21 covery work originally initiated by non-profit part22 ners to identify new treatments for muscular dys23 trophy. Also through the translational program, 

24 three other major cooperative agreements have been 


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1 awarded for highly targeted therapy development 

2 projects in the muscular dystrophies. 

3 (11) Due to the initiatives made possible 

4 through the MD–CARE Act, national non-profit or5 ganizations have joined in model strategic collabora6 tions with academic research institutions, public 

7 funders of MD research, and industry to expand in8 vestments in MD research activities and to create 

9 new platforms for translational research. These have 

10 led to the development of the first potential thera11 pies for DMD, myotonic, facioscapulohumeral, limb12 girdle and other conditions that are proceeding 

13 through clinical trials. 

14 (12) Advancements in care have helped prolong 

15 life and quality of life for patients with muscular 

16 dystrophy. 

17 (13) Notwithstanding these promising develop18 ments, the majority of the directions envisioned by 

19 the Action Plan for the Muscular Dystrophies, devel20 oped pursuant to the MD–CARE Act, have not been 

21 realized. Where recent momentum has been 

22 achieved, its sustainability is fragile and directly de23 pendent upon continued Federal support for the 

24 early phase planning and programs created through 

25 the MD–CARE Act. 


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1 (14) There remains a shortage of qualified re2 searchers in the field of muscular dystrophy re3 search. Many family physicians and health care pro4 fessionals still lack the knowledge and resources to 

5 detect and properly diagnose muscular dystrophy as 

6 early as possible, thus delaying management of 

7 symptoms in cases that go undetected or 

8 misdiagnosed. 

9 (15) As new understandings of the genetic basis 

10 for disease and potential treatment has emerged, the 

11 public and health care communities are in urgent 

12 need of education and outreach to ensure competent, 

13 informed engagement in genetic testing and coun14 seling and appropriate patient characterization so 

15 that patients are able to participate in new avenues 

16 of research and clinical trials. 

17 (16) As basic research into the muscular dys18 trophies points the way to new therapeutic targets, 

19 there is an urgent need to support the clinical re20 search infrastructure necessary to bring these thera21 peutic leads to human trials; these infrastructure 

22 needs include validated endpoints, current natural 

23 history studies, biomarkers, clinical research net24 works, patient registries and databases. 


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1 (17) In order to improve lives and develop effec2 tive treatments for individuals with muscular dys3 trophy, there must be improved communications and 

4 partnerships between patients, patient advocacy, re5 searchers, and clinical care providers. To that end, 

6 renewed effort to work together by all parties is a 

7 critical element for successful outcomes in the years 

8 to come. 

9 (18) Continued focus and investment are re10 quired to build on the current momentum, respond 

11 to public need, and ensure that federally funded re12 search and other innovation is translated to thera13 peutic targets as quickly as possible. 

14 SEC. 3. EXPANSION, INTENSIFICATION, AND COORDINA15 TION OF ACTIVITIES OF NIH WITH RESPECT 

16 TO RESEARCH ON MUSCULAR DYSTROPHY. 

17 (a) TECHNICAL CORRECTION.—Section 404E of the 

18 Public Health Service Act (42 U.S.C. 283g) is amended 

19 by striking subsection (f) (relating to reports to Congress) 

20 and redesignating subsection (g) as subsection (f). 

21 (b) AMENDMENTS.—Section 404E of the Public 

22 Health Service Act (42 U.S.C. 283g) is amended— 

23 (1) in subsection (a)(1), by inserting ‘‘the Na24 tional Heart, Lung, and Blood Institute,’’ after ‘‘the 


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1 Eunice Kennedy Shriver National Institute of Child 

2 Health and Human Development,’’; 

3 (2) in subsection (b)(1), by adding at the end 

4 of the following: ‘‘Such centers of excellence shall be 

5 known as the ‘Paul D. Wellstone Muscular Dys6 trophy Cooperative Research Centers’.’’; and 

7 (3) by adding at the end the following: 

8 ‘‘(g) CLINICAL RESEARCH.—The Coordinating Com9 mittee shall give special consideration to the urgent need 

10 to enhance the clinical research infrastructure required to 

11 test emerging therapies for the various forms of muscular 

12 dystrophy by prioritizing the achievement of the goals re13 lated to this topic in the plan under subsection (e)(1). 

14 ‘‘(h) AUTHORIZATION OF APPROPRIATIONS.—There 

15 are authorized to be appropriated to carry out this section 

16 such sums as may be necessary for each of fiscal years 

17 2008 through 2012.’’. 

18 SEC. 4. DEVELOPMENT AND EXPANSION OF ACTIVITIES OF 

19 CDC WITH RESPECT TO EPIDEMIOLOGICAL 

20 RESEARCH ON MUSCULAR DYSTROPHY. 

21 Section 317Q of the Public Health Service Act (42 

22 U.S.C. 247b–18) is amended— 

23 (1) by redesignating subsection (d) as sub24 section (f); and 


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1 (2) by inserting after subsection (c) the fol2 lowing: 

3 ‘‘(d) DATA.—In carrying out this section, the Sec4 retary shall ensure that any data on patients that is col5 lected as part of the Muscular Dystrophy STARnet (under 

6 a grant under this section) is regularly updated to reflect 

7 changes in patient condition over time, particularly with 

8 respect to any improvements realized through patient ad9 herence to care considerations or utilization of a treatment 

10 or therapy. 

11 ‘‘(e) REPORTS AND STUDY.— 

12 ‘‘(1) ANNUAL REPORT.—Not later than 18 

13 months after the date of the enactment of the Paul 

14 D. Wellstone Muscular Dystrophy Community As15 sistance, Research, and Education Amendments of 

16 2008, and annually thereafter, the Director of the 

17 Centers for Disease Control and Prevention shall 

18 submit to the appropriate committees of the Con19 gress a report— 

20 ‘‘(A) concerning the activities carried out 

21 by MD STARnet site funded under this section 

22 during the year for which the report is pre23 pared; 

24 ‘‘(B) containing the data collected and 

25 findings derived from the MD STARnet sites 


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1 each fiscal year (as funded under a grant under 

2 this section during fiscal years 2008 through 

3 2012); and 

4 ‘‘(C) that every 2 years outlines prospec5 tive data collection objectives and strategies. 

6 ‘‘(2) TRACKING HEALTH OUTCOMES.—The Di7 rector of the Centers for Disease Control and Pre8 vention shall provide prospective health outcome 

9 data on the health and survival of people with mus10 cular dystrophy.’’. 

11 SEC. 5. INFORMATION AND EDUCATION. 

12 Section 5 of the Muscular Dystrophy Community As13 sistance, Research and Education Amendments of 2001 

14 (42 U.S.C. 247b–19) is amended— 

15 (1) by redesignating subsection (c) as sub16 section (d); and 

17 (2) by inserting after subsection (b) the fol18 lowing: 

19 ‘‘(c) REQUIREMENTS OF CDC.—In carrying out this 

20 section, the Director of the Centers for Disease Control 

21 and Prevention shall— 

22 ‘‘(1) partner with leaders in the muscular dys23 trophy patient community; and 

24 ‘‘(2) widely disseminate the Duchenne-Becker 

25 muscular dystrophy care considerations as broadly 


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1 as possible, including through partnership opportuni2 ties with the muscular dystrophy patient commu3 nity.’’. 

4 SEC. 6. STANDARDS OF CARE. 

5 Part A of title IX of the Public Health Service Act 

6 (42 U.S.C. 299 et seq.) is amended by adding at the end 

7 the following: 

8 ‘‘SEC. 904. STANDARDS OF CARE RELATING TO MUSCULAR 

9 DYSTROPHY. 

10 ‘‘The Director shall— 

11 ‘‘(1) evaluate the available scientific evidence 

12 for the appropriate medical or patient organizations 

13 for purposes of the development and issuance of an 

14 initial set of care considerations for Duchenne-Beck15 er muscular dystrophy and provide ongoing review 

16 and updates where appropriate; and 

17 ‘‘(2) replicate the same methodology used to de18 velop the Duchenne-Becker muscular dystrophy care 

19 considerations developed under paragraph (1) as a 

20 model for other muscular dystrophies.’’. 

Æ 


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