II 

111TH CONGRESS 

1ST SESSION S. 2858 

To amend the Public Health Service Act to establish an Office of 

Mitochondrial Disease at the National Institutes of Health, and for 

other purposes. 

IN THE SENATE OF THE UNITED STATES 

DECEMBER 9, 2009 

Mrs. BOXER (for herself, Mr. DURBIN, Mr. KERRY, and Mr. CASEY) introduced the following bill; which was read twice and referred to the Committee on Health, Education, Labor, and Pensions 

A BILL 

To amend the Public Health Service Act to establish an 

Office of Mitochondrial Disease at the National Institutes of Health, and for other purposes. 

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 ‘‘Brittany Wilkinson 

5 Mitochondrial Disease Research and Treatment Enhance6 ment Act’’. 

7 SEC. 2. FINDINGS AND PURPOSE. 

8 (a) FINDINGS.—Congress finds the following: 


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1 (1) Mitochondrial disease results when there is 

2 a defect that reduces the ability of the mitochondria 

3 in a cell to produce energy. As mitochondria fail to 

4 produce enough energy, the cells will cease to func5 tion properly and will eventually die. Organ systems 

6 will begin to fail, and the life of the individual is 

7 compromised or ended. 

8 (2) There are more than 40 mitochondrial dis9 eases. 

10 (3) Mitochondrial diseases are a relatively newly 

11 diagnosed group of diseases, first recognized in the 

12 late 1960s. Diagnosis of these diseases is extremely 

13 difficult. 

14 (4) Mitochondrial diseases can present them15 selves at any age, with associated mortality rates 

16 that vary depending upon the particular disease. The 

17 most severe diseases result in progressive loss of 

18 neurological and liver function, and death within 

19 several years. 

20 (5) According to the National Institute of Envi21 ronmental Health Sciences, half of those affected by 

22 mitochondrial disease are children, who show symp23 toms before age five and approximately 80 percent 

24 of whom will not survive beyond the age of 20. 


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1 (6) Mitochondrial dysfunction is also associated 

2 with numerous other disorders, including many neu3 rological diseases (such as Parkinson’s, Alzheimer’s, 

4 ALS, and autism), and other diseases associated 

5 with aging, diabetes, and cancer. 

6 (7) Mitochondrial diseases are most commonly 

7 the result of genetic mutation, either in the nuclear 

8 DNA or in the mitochondrial DNA. Some 

9 mitochondrial diseases have been attributable to en10 vironmental factors that interfere with mitochondrial 

11 function. 

12 (8) Researchers estimate that one in 4,000 chil13 dren will develop a mitochondrial disease related to 

14 an inherited mutation by the age of 10 years, and 

15 that 1,000–2,000 children are born each year in the 

16 United States who will develop mitochondrial disease 

17 in their lifetimes. However, studies of umbilical cord 

18 blood samples show that one in 200 children are 

19 born with both normal and mutant mitochondrial 

20 DNA, and the number of children with these 

21 mutations who actually develop a disease is un22 known. 

23 (9) There are no cures for any of the specifi24 cally identified mitochondrial diseases, nor is there a 

25 specific treatment for any of these diseases. 


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1 (10) Improving our basic understanding of 

2 mitochondrial function and dysfunction has potential 

3 application to numerous areas of biomedical re4 search. The National Institutes of Health has taken 

5 an increased interest in mitochondrial disease and 

6 dysfunction and has sponsored a number of activities 

7 in recent years aimed at advancing mitochondrial 

8 medicine, including incorporating research into func9 tional variation in mitochondria in the Trans10 formative Research Grants Initiative. 

11 (b) PURPOSE.—It is the purpose of this Act to pro12 mote an enhanced research effort aimed at improved un13 derstanding of mitochondrial disease and dysfunction and 

14 the development of treatments and cures for mitochondrial 

15 disease. 

16 SEC. 3. ENHANCEMENT OF RESEARCH AND TREATMENT 

17 ACTIVITIES RELATED TO MITOCHONDRIAL 

18 DISEASE. 

19 (a) MITOCHONDRIAL DISEASE RESEARCH ENHANCE20 MENT.—Part A of title IV of the Public Health Service 

21 Act (42 U.S.C. 281 et seq.) is amended— 

22 (1) by redesignating section 404H as section 

23 404I; and 

24 (2) inserting after section 404G the following 

25 new section: 


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1 ‘‘SEC. 404H. OFFICE OF MITOCHONDRIAL DISEASE. 

2 ‘‘(a) ESTABLISHMENT.—There is established within 

3 the Office of the Director of NIH at the Division of Pro4 gram Coordination, Planning and Strategic Initiatives, an 

5 office to be known as the Office of Mitochondrial Disease 

6 (in this section referred to as the ‘Office’), which shall be 

7 headed by a Director (in this section referred to as the 

8 ‘Director’), appointed by the Director of NIH. 

9 ‘‘(b) MITOCHONDRIAL DISEASE RESEARCH PLAN.— 

10 ‘‘(1) IN GENERAL.—The Director shall develop, 

11 make publicly available, and implement a written 

12 plan to facilitate and coordinate research into 

13 mitochondrial disease. 

14 ‘‘(2) CONTENTS.—The plan required under 

15 paragraph (1) shall include the following objectives: 

16 ‘‘(A) Improving coordination of research 

17 related to mitochondrial disease among the na18 tional research institutes and between the Na19 tional Institutes of Health and outside research20 ers. 

21 ‘‘(B) Providing training to research sci22 entists and clinical researchers engaged in re23 search related to mitochondrial disease. 

24 ‘‘(C) Conducting programs to provide in25 formation and continuing education to health 


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1 care providers regarding the diagnosis of 

2 mitochondrial disease. 

3 ‘‘(D) Ensuring relevant scientific review 

4 groups contain individuals with expertise in 

5 mitochondrial disease. 

6 ‘‘(3) CONSULTATION.—In developing the plan 

7 under paragraph (1), the Director shall consult 

8 with— 

9 ‘‘(A) the Director of the National Cancer 

10 Institute; 

11 ‘‘(B) the Director of the National Institute 

12 of Child Health and Human Development; 

13 ‘‘(C) the Director of the National Institute 

14 of Environmental Health Sciences; 

15 ‘‘(D) the Director of the National Heart, 

16 Lung, and Blood Institute; 

17 ‘‘(E) the Director of the National Institute 

18 of Neurological Disorders and Stroke; 

19 ‘‘(F) the Director of the National Institute 

20 of Diabetes and Digestive and Kidney Diseases; 

21 ‘‘(G) the Director of the National Eye In22 stitute; 

23 ‘‘(H) the Director of the National Institute 

24 of Mental Health; 


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1 ‘‘(I) the Director of the National Institute 

2 of Arthritis and Muscoloskeletal and Skin Dis3 eases; 

4 ‘‘(J) the Director of the National Human 

5 Genome Research Institute; and 

6 ‘‘(K) the heads of such other institutes and 

7 offices as the Director considers appropriate. 

8 ‘‘(4) UPDATES.—The Director shall update the 

9 plan required under paragraph (1) on a biennial 

10 basis. 

11 ‘‘(c) RESEARCH GRANTS.—In addition to any grants 

12 otherwise awarded by the National Institutes of Health 

13 for research in mitochondrial disease, the Director may 

14 award competitive, peer-reviewed grants— 

15 ‘‘(1) for integrated, multi-project research pro16 grams related to mitochondrial disease; and 

17 ‘‘(2) for planning activities associated with inte18 grated, multi-project research programs related to 

19 mitochondrial disease. 

20 ‘‘(d) CENTERS OF EXCELLENCE.— 

21 ‘‘(1) IN GENERAL.—The Director may award 

22 grants to institutions or consortiums of institutions 

23 to establish Mitochondrial Disease Centers of Excel24 lence to promote interdisciplinary research and 

25 training related to mitochondrial disease. 


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1 ‘‘(2) USE OF FUNDS AWARDED.—A grant 

2 awarded under paragraph (1) may be used to— 

3 ‘‘(A) conduct basic and clinical research re4 lated to mitochondrial disease; 

5 ‘‘(B) facilitate training programs for re6 search scientists and health professionals seek7 ing to engage in research related to 

8 mitochondrial disease; and 

9 ‘‘(C) develop and disseminate programs 

10 and materials to provide continuing education 

11 to health care professionals regarding the rec12 ognition, diagnosis, and treatment of 

13 mitochondrial disease. 

14 ‘‘(e) NATIONAL REGISTRY; BIOREPOSITORY.— 

15 ‘‘(1) NATIONAL REGISTRY.—The Director of 

16 the Centers for Disease Control and Prevention shall 

17 establish a national registry for the maintenance and 

18 sharing for research purposes of medical information 

19 collected from patients with mitochondrial disease. 

20 ‘‘(2) BIOREPOSITORY.—The Director of the 

21 Centers for Disease Control and Prevention shall es22 tablish a national biorepository for the maintenance 

23 and sharing for research purposes of tissues and 

24 DNA collected from patients with mitochondrial dis25 ease. 


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1 ‘‘(f) DEFINITION.—In this section, the term 

2 ‘mitochondrial disease’ means mitochondrial diseases, 

3 mutations, dysfunctions and functions. 

4 ‘‘(g) AUTHORIZATION OF APPROPRIATIONS.—There 

5 is authorized to be appropriated, such sums as may be 

6 necessary to carry out this section.’’. 

7 (b) DEVELOPMENT OF MITOCHONDRIAL DISEASE

8 RESEARCH PLAN.—The Director of the Office of 

9 Mitochondrial Disease shall develop and make publicly 

10 available the mitochondrial disease research plan required 

11 under section 404H(b)(1) of the Public Health Service 

12 Act, as added by subsection (a) of this section, not later 

13 than 180 days after the date of the enactment of this Act. 

Æ 


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