1.This Act may be cited as the
Trisomy 21 Translational Research
Parity Act of 2009
or the 21 Act
.
2.The Congress makes the following
findings:
(1)Down syndrome was named after John Langdon
Down, the first physician to identify the syndrome.
(2)Down syndrome is the most frequent genetic
cause of mild to moderate intellectual disabilities (mental retardation) and
associated medical problems and occurs in one out of 733 live births, in all
races and economic groups. Intellectual disability is a disability
characterized by significant limitations both in intellectual functioning and
in adaptive behavior, which covers many everyday social and practical skills.
This disability originates before the age of 18.
(3)Down syndrome is a chromosomal condition
caused by an error in cell or chromosome division that usually results in the
presence of an additional third chromosome 21 or trisomy 21
.
Three other forms of Down syndrome exist: translocation Down syndrome (where
cells have two copies of chromosome 21 and a third hybrid copy of chromosome 21
and another chromosome), mosaic Down syndrome (where some but not all, cells
have three copies of chromosome 21), and segmental trisomy Down syndrome (where
cells have an extra copy of a part of chromosome 21 either added to an
otherwise normal 21 or as a hybrid copy of a part of chromosome 21 and another
chromosome).
(4)There are more than 400,000 people living
with Down syndrome in the United States.
(5)Down syndrome incidence increases with the
age of the mother, but due to higher fertility rates in younger women, the
majority of children with Down syndrome are born to women under 35 years of
age.
(6)Life expectancy for people with Down
syndrome has increased dramatically in recent decades, but varies significantly
across various ethnic groups. People with Down syndrome attend school, work,
participate in decisions that concern them, and contribute to society in many
meaningful ways.
(7)The Children’s Health Act of 2000 (Public
Law 106–310) amended the Public Health Service Act (42 U.S.C. 201 et seq.) and
included a number of provisions that addressed the research and surveillance
needs of many disabilities such as autism, traumatic brain injury, Fragile X,
juvenile diabetes, asthma, epilepsy, and others. However, this landmark
legislation did not address the significant research, surveillance, and
clinical care needs of Down syndrome and thus has been an impediment to
progress in the Down syndrome research community over the last decade. This Act
attempts to incorporate Down syndrome as an area of permissible research and
surveillance at the National Institutes of Health and the Centers for Disease
Control and Prevention and will foster a better understanding of Down
syndrome.
3.NIH Down syndrome translational research
and service development activitiesPart B of title IV of the Public Health
Service Act (42 U.S.C. 284 et seq.) is amended by adding at the end the
following:
409J.Down syndrome translational research and
service development activities
(a)Expansion, intensification, and
coordination of activities
(1)The Director of NIH, in coordination with
the directors of the National Institute of Child Health and Human Development,
the National Heart, Lung, and Blood Institute, the National Institute of
Allergy and Infectious Diseases, the National Institute of Neurological
Disorders and Stroke, the National Cancer Institute, the National Institute on
Aging, the National Institute of Mental Health, and the other national research
institutes as appropriate, shall expand and intensify programs of the National
Institutes of Health with respect to translational research and related
activities concerning Down syndrome.
(2)The directors referred to in paragraph (1)
shall jointly coordinate the programs referred to in such paragraph and consult
with the Down Syndrome Coordinating Committee established under subsection
(d).
(3)Allocations by Director of
NIHThe Director of NIH shall
allocate the amounts appropriated to carry out this section for each fiscal
year among the national research institutes referred to in paragraph
(1).
(b)
(1)The Director of NIH shall award grants and
contracts under subsection (a)(1) to public or nonprofit private entities to
pay all or part of the cost of planning, establishing, improving, and providing
basic operating support for centers of excellence regarding translational
research on Down syndrome. To the extent and in the amount of appropriations
made in advance, the Director of NIH shall provide for the establishment of at
least 6 such centers of excellence.
(2)Each center under paragraph (1) shall
contribute to a comprehensive research portfolio for Down syndrome building
upon the recommendations set forth in the NIH Research Plan on Down Syndrome
published in October 2007, have a primary focus on Down syndrome, provide an
optimal venue and infrastructure for patient-oriented research, and conduct
basic, clinical, and translational research on Down syndrome, including, but
not limited to, research on the following:
(A)Early detection, diagnosis, and treatment
of Down syndrome.
(B)The biological mechanisms responsible for
structural and functional anomalies in cells and tissues affected by Down
syndrome.
(C)The biological mechanisms responsible for
cognitive and behavioral dysfunction resulting from Down syndrome.
(D)Novel biomedical and pharmacological
interventions designed to promote or enhance cognition and related brain
functions and activities of daily living (ADLs).
(E)Co-occurrence of and treatments for
associated medical and neurobehavioral disorders.
(F)Developmental disorders, interventions for
congenital heart disease, obstructive sleep apnea, coronary heart disease,
obesity, and metabolism.
(G)Contributions of genetic variation to
clinical presentation as targets for therapy.
(H)Identification of biomarkers for complex
phenotypes.
(I)Accessibility of health care,
evidence-based health practice research and support services, referral
patterns, and complications.
(J)Noninvasive imaging in support of efforts
to other genotype and phenotypes of Down syndrome.
(K)Pharmacological and other therapies for
common features of Down syndrome including Alzheimer disease and other Down
syndrome related disorders.
(3)
(A)A center under paragraph (1) shall expend
amounts provided under such paragraph to carry out a program to make
individuals aware of opportunities to participate as subjects in research
conducted by the centers.
(B)A program under subparagraph (A) shall, in
accordance with such criteria as the Director may establish, provide to the
subjects described in such subparagraph referrals for health and other services
and such patient care costs as are required for research.
(C)In awarding grants under this section, the
Director of NIH shall require the applicant to demonstrate, and shall take into
consideration, the availability of and access to health and medical services
described in subparagraph (B).
(4)Training program for clinician and
scientistsEach center under
paragraph (1) shall establish or expand training programs for medical and
allied health clinicians and scientists in research relevant to Down
syndrome.
(5)Coordination of centers;
reportsThe Director of NIH
shall—
(A)provide for the coordination of information
sharing among the centers under paragraph (1) and ensure regular communication
among such centers; and
(B)require the centers to submit periodic
reports to the Director on their activities.
(6)Each center under paragraph (1) shall use
the facilities of a single institution meeting such requirements as may be
prescribed by the Director of NIH, be formed from a consortium or network of
such institutions, or both.
(7)
(A)Subject to subparagraph (B), the Director
of NIH may not provide support to a center established under paragraph (1) for
a period of more than 5 years.
(B)The period referred to in subparagraph (A)
may be extended for 1 or more additional periods not exceeding 5 years
if—
(i)the operations of the center have been
reviewed by an appropriate technical and scientific peer review group
established by the Director of NIH; and
(ii)such group has recommended to the Director
that such period be extended.
(c)Facilitation and coordination of
researchThe Director of NIH
shall, in coordination of the National Down Syndrome Patient Registry and
Biobank established under section 317U, provide for a program under subsection
(a)(1) under which samples of tissues and genetic materials that are of use in
research on Down syndrome are donated, collected, preserved, and made available
for such research. The program shall—
(1)be carried out in accordance with accepted
scientific and medical standards for the donation, collection, and preservation
of such samples; and
(2)be linked with the National Down Syndrome
Patient Registry and Biobank established under section 317U to allow for
systematic searches of information.
(d)
(1)The Secretary shall establish the Down
Syndrome Coordinating Committee (referred to in this section as the
Coordinating Committee
) to coordinate activities across the
National Institutes of Health and with other Federal health programs and
activities relating to Down syndrome.
(2)The Coordinating Committee shall consist of
not more than 15 members, of which—
(A)2⁄3 of such members
shall represent governmental agencies, including—
(i)the directors or their designees of each of
the national research institutes involved in research with respect to Down
syndrome;
(ii)representatives of all other Federal
departments and agencies whose programs involve health functions or
responsibilities relevant to such diseases, including the Centers for Disease
Control and Prevention, the Health Resources and Services Administration, and
the Food and Drug Administration; and
(iii)representatives of other governmental
agencies that serve children and adults with Down syndrome, such as the
Department of Education, the Department of Labor, and the Department of Housing
and Urban Development; and
(B)1⁄3 of such members
shall be public members, including a broad cross section of persons with Down
syndrome, parents or legal guardians of persons with Down syndrome,
researchers, and clinicians.
(3)
(A)The Secretary, in consultation with Down
syndrome stakeholder organizations, shall appoint the members of the
Coordinating Committee.
(B)Members of the
Coordinating Committee appointed under paragraph (2)(B) shall be appointed for
a term of 3 years, and may serve for an unlimited number of terms if
reappointed. At least two such public members shall be persons who are actively
engaged in research or clinical practice on Down syndrome. At least one such
public member shall be a person with Down syndrome, and an additional,
non-voting member, whose sole role shall be to support the member with Down
syndrome, shall be identified with direct input from the member with Down
syndrome.
(4)
(A)With respect to Down syndrome, the Chair of
the Coordinating Committee shall—
(i)serve as the principal advisor to the
Secretary, the Assistant Secretary for Health, and the Director of NIH;
and
(ii)provide advice to the Director of the
Centers for Disease Control and Prevention, the Commissioner of Food and Drugs,
and to the heads of other relevant agencies.
(B)The Chair of the Coordinating
Committee—
(i)shall be selected by the Coordinating
Committee from among its members; and
(ii)shall be selected to serve a term not to
exceed 2 years.
(5)The Secretary of Health and Human Services
shall provide, or arrange for an appropriate office or agency of the Department
of Health and Human Services to provide, necessary and appropriate
administrative support to the Coordinating Committee.
(6)The Coordinating Committee shall meet as
appropriate, as determined by the Secretary in consultation with the Chair of
the Coordinating Committee.
(e)
(1)Not later than 1 year after the date of
enactment of this section, the Coordinating Committee shall develop a plan for
conducting and supporting research and education on Down syndrome through the
national research institutes and shall periodically review and revise the plan.
The plan shall—
(A)provide for a broad range of research and
education activities relating to biomedical, epidemiological, public
perception, psychosocial, and rehabilitative issues, including studies of the
impact of such conditions in rural and underserved communities;
(B)identify priorities among the programs and
activities of the National Institutes of Health regarding such conditions;
and
(C)reflect input from a broad range of
scientists, patients, and advocacy groups.
(2)The plan under paragraph (1) shall, with
respect to Down syndrome, provide for the following as appropriate:
(A)Basic research concerning the etiology and
genetic contributions to the potential causes and consequences of the
chromosomal disorder.
(B)Basic and clinical research for the
development and evaluation of new treatments, including new biological
agents.
(C)Specific programs for identifying potential
therapeutic agents and moving them into clinical trials in a timely
manner.
(D)Research to determine the reasons
underlying the incidence and prevalence of various forms of Down
syndrome.
(E)Information and education programs for
health care professionals and the public.
(f)The Coordinating Committee shall biennially
submit to the Committee on Energy and Commerce of the House of Representatives
and the Committee on Health, Education, Labor, and Pensions of the Senate a
report that describes the research, education, and other activities on Down
syndrome being conducted or supported through the Department of Health and
Human Services. Each such report shall include the following:
(1)The plan under subsection (e)(1) (or
revisions to the plan, as the case may be).
(2)Provisions specifying the amounts expended
by the Department of Health and Human Services with respect to Down
syndrome.
(3)Provisions identifying particular projects
or types of projects that should in the future be considered by the national
research institutes or other entities in the field of research on Down
syndrome.
(g)The Secretary shall, under subsection
(a)(1), provide for a means through which the public can obtain information on
the existing and planned programs and activities of the Department of Health
and Human Services with respect to Down syndrome and through which the
Secretary can receive comments from the public regarding such programs and
activities.
(h)The term translational
research means rigorous, evidence-based basic or clinical research with
an emphasis on accelerating the development and delivery of effective new
therapies to patients.
(i)Authorization of
appropriationsFor the
purpose of carrying out this section, there are authorized to be appropriated
such sums as may be necessary for each of fiscal years 2011 through 2015. The
authorization of appropriations established in the preceding sentence is in
addition to any other authorization of appropriations that is available for
conducting or supporting through the National Institutes of Health research and
other activities with respect to Down
syndrome.
.
4.CDC Down syndrome surveillance and research
programsPart B of title III
of the Public Health Service Act (42 U.S.C. 243 et seq.) is amended by
inserting after section 317T the following:
317U.Down Syndrome surveillance and research
programs
(a)The Secretary, acting through the Director
of the Centers for Disease Control and Prevention, may award grants and
cooperative agreements to public or nonprofit private entities (including State
health departments, political subdivisions of States, universities, and other
educational entities) for the collection, analysis, and reporting of data on
Down syndrome. In making such awards, the Secretary may provide direct
technical assistance, including personnel support, in lieu of cash.
(b)National Down Syndrome Epidemiology
Program
(1)The Secretary, acting through the Director
of the Centers for Disease Control and Prevention, may award grants to public
or nonprofit private entities (including State health departments, political
subdivisions of States, universities, and other educational entities) for the
purpose of carrying out epidemiological activities regarding Down syndrome,
including collecting and analyzing information on the number, incidence,
correlates, and symptoms of cases and the clinical utility (including costs and
benefits) of specific practice patterns. In making such awards, the Secretary
may provide direct technical assistance, including personnel support, in lieu
of cash.
(2)National surveillance programIn carrying out subsection (a), the
Secretary shall—
(A)provide for a national surveillance
program; and
(B)where possible, ensure that the
surveillance program is coordinated with the data and sample collection
activities of the National Down Syndrome Patient Registry and Biobank.
(c)National down syndrome patient registry and
biobank
(1)The Secretary, acting through the Director
of the Centers for Disease Control and Prevention and in collaboration with an
eligible national organization and patient advocacy organization, shall
establish a National Down Syndrome Patient Registry and Biobank.
(2)The National Down Syndrome Patient Registry
and Biobank—
(A)shall be used, building upon the
multi-disease bank of brain and other tissue of the National Institute of Child
Health and Human Development—
(i)to establish a centralized or distributed
brain, cell, tissue, DNA, and RNA bank;
(ii)to well-characterize a cohort of patients
for genotype-phenotype investigations to inter-operate with the bank;
and
(iii)to correlate the nature and severity of
cognitive deficits and age of onset and severity of dementia;
(B)shall be used as a resource to prepare
therapies and treatments for clinical trials of ongoing treatments for
individuals with Down syndrome, including the encouragement to include
participants with Down syndrome in National Institutes of Health-funded
clinical trials; and
(C)shall include the collection and analysis
of longitudinal data related to individuals of all ages with Down syndrome,
including infants, young children, adolescents, and adults of all ages
including older Americans.
(d)
(1)In carrying out this section, the Secretary
shall enter into cooperative agreements with an eligible national organization,
a patient advocacy organization, and appropriate academic health institutions
to develop, implement, and manage Down Syndrome Centers of Excellence for the
purpose of—
(A)providing clinical care for patients with
Down syndrome;
(B)coordinating research and clinical
activities with the activities of the National Down Syndrome Registry and
Biobank; and
(C)participating in a system for Down syndrome
patient data collection and analysis, including the creation and use of a
common data entry and management system.
(2)Eligible National
OrganizationIn this
subsection, the term eligible national organization means a
national organization that—
(A)has expertise in the epidemiology of Down
syndrome; and
(B)has the capacity to maintain a patient
registry or Biobank.
(e)
(1)Not later than 90 days after the date of
the enactment of this section, the Secretary, acting through the Director of
the Centers for Disease Control and Prevention, shall establish a committee to
be known as the Advisory Committee on the National Down Syndrome Registry and
Biobank (referred to in this section as the Advisory
Committee
).
(2)The Advisory Committee shall be composed of
at least one member, to be appointed by the Secretary, acting through the
Director of the Centers for Disease Control and Prevention, representing each
of the following:
(A)National voluntary health associations that
focus solely on Down syndrome and have demonstrated experience in Down syndrome
research, care, and patient services.
(B)The National Institutes of Health, to
include, upon the recommendation of the Director of the National Institutes of
Health, representatives from the Directors of the National Institute of Child
Health and Human Development, National Heart, Lung, and Blood Institute,
National Institute of Allergy and Infectious Diseases, National Institute of
Neurological Disorders and Stroke, National Cancer Institute, National
Institute on Aging, and National Institute of Mental Health.
(C)The Agency for Toxic Substances and Disease
Registry.
(D)The Centers for Disease Control and
Prevention.
(E)Down Syndrome Centers of Excellence
developed under subsection (d).
(F)Individuals with Down syndrome and, for the
sole purpose of supporting such individuals, their family members.
(G)Clinicians with expertise on Down
syndrome.
(H)Epidemiologists with experience in data
registries.
(I)Geneticists or experts in genetics who have
experience with the genetics of Down syndrome.
(J)Statisticians.
(K)Ethicists.
(L)Attorneys.
(M)Researchers with expertise on Down
syndrome.
(N)Research scientists with experience
conducting translational research or creating systems that support translating
basic discoveries into treatments.
(O)Experts in additional neurological
diseases, as appropriate, based on development and implementation of national
surveillance systems for other neurological diseases and disorders.
(P)Other individuals with an interest in
developing and maintaining the National Down Syndrome Registry and
Biobank.
For purposes of this paragraph, the
Secretary may appoint a member to represent more than one category described in
subparagraphs (A) through (P).(3)The Advisory Committee shall review and
make recommendations to the Secretary concerning—
(A)the establishment, operation, and
maintenance of the National Down Syndrome Registry and Biobank;
(B)the type of information to be collected and
stored in the Registry and Biobank;
(C)the manner in which such data is to be
collected; and
(D)the use and availability of such data
including guidelines for such use.
(4)The Director of the Centers for Disease
Control and Prevention shall provide administrative support that is necessary
and appropriate, as determined by the Director, to the Advisory
Committee.
(5)The Advisory Committee shall meet as
appropriate, as determined by the Director of the Centers for Disease Control
and Prevention.
(6)Not later than 2 years after the date on
which the Advisory Committee is established, the Advisory Committee shall
submit a report concerning the review conducted under paragraph (3) that
contains the recommendations of the Advisory Committee with respect to the
results of such review.
(f)Coordination with centers of
excellenceThe Secretary
shall ensure that epidemiological and registry information under subsections
(a), (b), (c), and (d) are made available to centers of excellence supported
under section 409C(b) by the Director of NIH.
(g)The term translational
research means rigorous, evidence-based basic or clinical research with
an emphasis on accelerating the development and delivery of effective new
therapies to patients.
(h)Authorization of
appropriationsTo carry out
this section, there are authorized to be appropriated $3,000,000 for fiscal
year 2010 and $500,000 for each of fiscal years 2011 through
2015.
.
5.Not later than January 1, 2011, and each
January 1 thereafter, the Secretary of Health and Human Services shall prepare
and submit to the appropriate committees of Congress a report concerning the
implementation of this Act and the amendments made by this Act.