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
To amend the Public Health Service Act to establish an Office of Mitochondrial Disease at the National Institutes of Health, and for other purposes.
This Act may be cited as the
Brittany Wilkinson Mitochondrial
Disease Research and Treatment Enhancement Act.
Findings and purpose
Congress finds the following:
Mitochondrial disease results when there is a defect that reduces the ability of the mitochondria in a cell to produce energy. As mitochondria fail to produce enough energy, the cells will cease to function properly and will eventually die. Organ systems will begin to fail, and the life of the individual is compromised or ended.
There are more than 40 mitochondrial diseases.
Mitochondrial diseases are a relatively newly diagnosed group of diseases, first recognized in the late 1960s. Diagnosis of these diseases is extremely difficult.
Mitochondrial diseases can present themselves at any age, with associated mortality rates that vary depending upon the particular disease. The most severe diseases result in progressive loss of neurological and liver function, and death within several years.
According to the National Institute of Environmental Health Sciences, half of those affected by mitochondrial disease are children, who show symptoms before age five and approximately 80 percent of whom will not survive beyond the age of 20.
Mitochondrial dysfunction is also associated with numerous other disorders, including many neurological diseases (such as Parkinson’s, Alzheimer’s, ALS, and autism), and other diseases associated with aging, diabetes, and cancer.
Mitochondrial diseases are most commonly the result of genetic mutation, either in the nuclear DNA or in the mitochondrial DNA. Some mitochondrial diseases have been attributable to environmental factors that interfere with mitochondrial function.
Researchers estimate that one in 4,000 children will develop a mitochondrial disease related to an inherited mutation by the age of 10 years, and that 1,000–2,000 children are born each year in the United States who will develop mitochondrial disease in their lifetimes. However, studies of umbilical cord blood samples show that one in 200 children are born with both normal and mutant mitochondrial DNA, and the number of children with these mutations who actually develop a disease is unknown.
There are no cures for any of the specifically identified mitochondrial diseases, nor is there a specific treatment for any of these diseases.
Improving our basic understanding of mitochondrial function and dysfunction has potential application to numerous areas of biomedical research. The National Institutes of Health has taken an increased interest in mitochondrial disease and dysfunction and has sponsored a number of activities in recent years aimed at advancing mitochondrial medicine, including incorporating research into functional variation in mitochondria in the Transformative Research Grants Initiative.
It is the purpose of this Act to promote an enhanced research effort aimed at improved understanding of mitochondrial disease and dysfunction and the development of treatments and cures for mitochondrial disease.
Enhancement of research and treatment activities related to mitochondrial disease
Mitochondrial disease research enhancement
Part A of title IV of the Public Health Service Act (42 U.S.C. 281 et seq.) is amended—
by redesignating section 404H as section 404I; and
inserting after section 404G the following new section:
Office of Mitochondrial Disease
There is established within the Office of
the Director of NIH at the Division of Program Coordination, Planning and
Strategic Initiatives, an office to be known as the Office of Mitochondrial
Disease (in this section referred to as the
Office), which shall
be headed by a Director (in this section referred to as the
Director), appointed by the Director of NIH.
Mitochondrial disease research plan
The Director shall develop, make publicly available, and implement a written plan to facilitate and coordinate research into mitochondrial disease.
The plan required under paragraph (1) shall include the following objectives:
Improving coordination of research related to mitochondrial disease among the national research institutes and between the National Institutes of Health and outside researchers.
Providing training to research scientists and clinical researchers engaged in research related to mitochondrial disease.
Conducting programs to provide information and continuing education to health care providers regarding the diagnosis of mitochondrial disease.
Ensuring relevant scientific review groups contain individuals with expertise in mitochondrial disease.
In developing the plan under paragraph (1), the Director shall consult with—
the Director of the National Cancer Institute;
the Director of the National Institute of Child Health and Human Development;
the Director of the National Institute of Environmental Health Sciences;
the Director of the National Heart, Lung, and Blood Institute;
the Director of the National Institute of Neurological Disorders and Stroke;
the Director of the National Institute of Diabetes and Digestive and Kidney Diseases;
the Director of the National Eye Institute;
the Director of the National Institute of Mental Health;
the Director of the National Institute of Arthritis and Muscoloskeletal and Skin Diseases;
the Director of the National Human Genome Research Institute; and
the heads of such other institutes and offices as the Director considers appropriate.
The Director shall update the plan required under paragraph (1) on a biennial basis.
In addition to any grants otherwise awarded by the National Institutes of Health for research in mitochondrial disease, the Director may award competitive, peer-reviewed grants—
for integrated, multi-project research programs related to mitochondrial disease; and
for planning activities associated with integrated, multi-project research programs related to mitochondrial disease.
Centers of Excellence
The Director may award grants to institutions or consortiums of institutions to establish Mitochondrial Disease Centers of Excellence to promote interdisciplinary research and training related to mitochondrial disease.
Use of funds awarded
A grant awarded under paragraph (1) may be used to—
conduct basic and clinical research related to mitochondrial disease;
facilitate training programs for research scientists and health professionals seeking to engage in research related to mitochondrial disease; and
develop and disseminate programs and materials to provide continuing education to health care professionals regarding the recognition, diagnosis, and treatment of mitochondrial disease.
National registry; biorepository
The Director of the Centers for Disease Control and Prevention shall establish a national registry for the maintenance and sharing for research purposes of medical information collected from patients with mitochondrial disease.
The Director of the Centers for Disease Control and Prevention shall establish a national biorepository for the maintenance and sharing for research purposes of tissues and DNA collected from patients with mitochondrial disease.
this section, the term
mitochondrial disease means mitochondrial
diseases, mutations, dysfunctions and functions.
Authorization of appropriations
There is authorized to be appropriated, such sums as may be necessary to carry out this section.
Development of mitochondrial disease research plan
The Director of the Office of Mitochondrial Disease shall develop and make publicly available the mitochondrial disease research plan required under section 404H(b)(1) of the Public Health Service Act, as added by subsection (a) of this section, not later than 180 days after the date of the enactment of this Act.