IB
Union Calendar No. 324
107TH CONGRESS
2D SESSION
H. R. 4013
[Report No. 107–543]
To amend the Public Health Service Act to establish an Office of Rare
Diseases at the National Institutes of Health, and for other purposes.
IN THE HOUSE OF REPRESENTATIVES
MARCH 20, 2002
Mr. SHIMKUS (for himself, Mr. WAXMAN, Mr. FOLEY, Mr. BROWN of Ohio,
Mrs. ROUKEMA, Mr. RUSH, Mr. KING, Mr. GREENWOOD, and Mr. DIN-
GELL) introduced the following bill; which was referred to the Committee
on Energy and Commerce
JUNE 26, 2002
Additional sponsors: Mr. MCGOVERN, Mr. HORN, Mr. SMITH of New Jersey,
Ms. MCKINNEY, Mrs. MORELLA, Mr. WYNN, Mr. GREEN of Texas, Mr.
TOWNS, Mr. FRANK, Mr. LYNCH, Mr. PALLONE, Ms. RIVERS, Mrs.
CAPPS, Mr. GEORGE MILLER of California, Ms. DEGETTE, Mr. WELDON
of Florida, Mr. HOEFFEL, Mr. LANTOS, Mr. STUPAK, Mrs. MINK of Ha-
waii, Mrs. KELLY, Ms. SLAUGHTER, Mr. MCDERMOTT, Ms. WOOLSEY,
Mr. PLATTS, Ms. VELA´ZQUEZ, Mr. KIND, Mrs. JOHNSON of Connecticut,
Mr. BONIOR, Mr. WEXLER, Ms. NORTON, Mr. LUCAS of Oklahoma, Mr.
MORAN of Virginia, Mr. SUNUNU, Mr. ISAKSON, Mrs. LOWEY, Mr.
OLVER, Ms. SCHAKOWSKY, Mr. KENNEDY of Rhode Island, Mr. TOM
DAVIS of Virginia, Mr. PRICE of North Carolina, Mr. WOLF, Mr. LEVIN,
Mr. DEUTSCH, Ms. CARSON of Indiana, and Mr. SANDERS
JUNE 26, 2002
Committed to the Committee of the Whole House on the State of the Union
and ordered to be printed
A BILL
To amend the Public Health Service Act to establish an
Office of Rare Diseases at the National Institutes of
Health, and for other purposes.
Be it enacted by the Senate and House of Representa-
tives of the United States of America in Congress assembled,
SECTION 1. SHORT TITLE.
This Act may be cited as the ‘‘Rare Diseases Act of
2002’’.
SEC. 2. FINDINGS AND PURPOSES.
(a) FINDINGS.—Congress makes the following find-
ings:
(1) Rare diseases and disorders are those which
affect small patient populations, typically popu-
lations smaller than 200,000 individuals in the
United States. Such diseases and conditions include
Huntington’s disease, amyotrophic lateral sclerosis
(Lou Gehrig’s disease), Tourette syndrome, Crohn’s
disease, cystic fibrosis, cystinosis, and Duchenne
muscular dystrophy.
(2) For many years, the 25,000,000 Americans
suffering from the over 6,000 rare diseases and dis-
orders were denied access to effective medicines be-
cause prescription drug manufacturers could rarely
make a profit from marketing drugs for such small
groups of patients. The prescription drug industry
did not adequately fund research into such treat-
ments. Despite the urgent health need for these
medicines, they came to be known as ‘‘orphan
drugs’’ because no companies would commercialize
them.
(3) During the 1970s, an organization called
the National Organization for Rare Disorders
(NORD) was founded to provide services and to
lobby on behalf of patients with rare diseases and
disorders. NORD was instrumental in pressing Con-
gress for legislation to encourage the development of
orphan drugs.
(4) The Orphan Drug Act created financial in-
centives for the research and production of such or-
phan drugs. New Federal programs at the National
Institutes of Health and the Food and Drug Admin-
istration encouraged clinical research and commer-
cial product development for products that target
rare diseases. An Orphan Products Board was estab-
lished to promote the development of drugs and de-
vices for rare diseases or disorders.
(5) Before 1983, some 38 orphan drugs had
been developed. Since the enactment of the Orphan
Drug Act, more than 220 new orphan drugs have
been approved and marketed in the United States
and more than 800 additional drugs are in the re-
search pipeline.
(6) Despite the tremendous success of the Or-
phan Drug Act, rare diseases and disorders deserve
greater emphasis in the national biomedical research
enterprise. The Office of Rare Diseases at the Na-
tional Institutes of Health was created in 1993, but
lacks a statutory authorization.
(7) The National Institutes of Health has re-
ceived a substantial increase in research funding
from Congress for the purpose of expanding the na-
tional investment of the United States in behavioral
and biomedical research.
(8) Notwithstanding such increases, funding for
rare diseases and disorders at the National Insti-
tutes of Health has not increased appreciably.
(9) To redress this oversight, the Department
of Health and Human Services has proposed the es-
tablishment of a network of regional centers of excel-
lence for research on rare diseases.
(b) PURPOSES.—The purposes of this Act are to—
(1) amend the Public Health Service Act to es-
tablish an Office of Rare Diseases at the National
Institutes of Health; and
(2) increase the national investment in the de-
velopment of diagnostics and treatments for patients
with rare diseases and disorders.
SEC. 3. NIH OFFICE OF RARE DISEASES AT NATIONAL IN-
STITUTES OF HEALTH.
Title IV of the Public Health Service Act (42 U.S.C.
281 et seq.), as amended by Public Law 107–84, is
amended by inserting after section 404E the following:
‘‘OFFICE OF RARE DISEASES
‘‘SEC. 404F. (a) ESTABLISHMENT.—There is estab-
lished within the Office of the Director of NIH an office
to be known as the Office of Rare Diseases (in this section
referred to as the ‘Office’), which shall be headed by a
Director (in this section referred to as the ‘Director’), ap-
pointed by the Director of NIH.
‘‘(b) DUTIES.—
‘‘(1) IN GENERAL.—The Director of the Office
shall carry out the following:
‘‘(A) The Director shall recommend an
agenda for conducting and supporting research
on rare diseases through the national research
institutes and centers. The agenda shall provide
for a broad range of research and education ac-
tivities, including scientific workshops and
symposia to identify research opportunities for
rare diseases.
‘‘(B) The Director shall, with respect to
rare diseases, promote coordination and co-
operation among the national research insti-
tutes and centers and entities whose research is
supported by such institutes.
‘‘(C) The Director, in collaboration with
the directors of the other relevant institutes and
centers of the National Institutes of Health,
may enter into cooperative agreements with and
make grants for regional centers of excellence
on rare diseases in accordance with section
404G.
‘‘(D) The Director shall promote the suffi-
cient allocation of the resources of the National
Institutes of Health for conducting and sup-
porting research on rare diseases.
‘‘(E) The Director shall promote and en-
courage the establishment of a centralized
clearinghouse for rare and genetic disease infor-
mation that will provide understandable infor-
mation about these diseases to the public, med-
ical professionals, patients and families.
‘‘(F) The Director shall biennially prepare
a report that describes the research and edu-
cation activities on rare diseases being con-
ducted or supported through the national re-
search institutes and centers, and that identi-
fies particular projects or types of projects that
should in the future be conducted or supported
by the national research institutes and centers
or other entities in the field of research on rare
diseases.
‘‘(G) The Director shall prepare the NIH
Director’s annual report to Congress on rare
disease research conducted by or supported
through the national research institutes and
centers.
‘‘(2) PRINCIPAL ADVISOR REGARDING ORPHAN
DISEASES.—With respect to rare diseases, the Direc-
tor shall serve as the principal advisor to the Direc-
tor of NIH and shall provide advice to other relevant
agencies. The Director shall provide liaison with na-
tional and international patient, health and scientific
organizations concerned with rare diseases.
‘‘(c) DEFINITION.—For purposes of this section, the
term ‘rare disease’ means any disease or condition that
affects less than 200,000 persons in the United States.
‘‘(d) AUTHORIZATION OF APPROPRIATIONS.—For the
purpose of carrying out this section, there are authorized
to be appropriated such sums as already have been appro-
priated for fiscal year 2002, and $4,000,000 for each of
the fiscal years 2003 through 2006.’’.
SEC. 4. RARE DISEASE REGIONAL CENTERS OF EXCEL-
LENCE.
Title IV of the Public Health Service Act (42 U.S.C.
281 et seq.), as amended by section 3, is further amended
by inserting after section 404F the following:
‘‘RARE DISEASE REGIONAL CENTERS OF EXCELLENCE
‘‘SEC. 404G. (a) COOPERATIVE AGREEMENTS AND
GRANTS.—
‘‘(1) IN GENERAL.—The Director of the Office
of Rare Diseases (in this section referred to as the
‘Director’), in collaboration with the directors of the
other relevant institutes and centers of the National
Institutes of Health, may enter into cooperative
agreements with and make grants to public or pri-
vate nonprofit entities to pay all or part of the cost
of planning, establishing, or strengthening, and pro-
viding basic operating support for regional centers of
excellence for clinical research into, training in, and
demonstration of diagnostic, prevention, control, and
treatment methods for rare diseases.
‘‘(2) POLICIES.—A cooperative agreement or
grant under paragraph (1) shall be entered into in
accordance with policies established by the Director
of NIH.
‘‘(b) COORDINATION WITH OTHER INSTITUTES.—
The Director shall coordinate the activities under this sec-
tion with similar activities conducted by other national re-
search institutes, centers and agencies of the National In-
stitutes of Health and by the Food and Drug Administra-
tion to the extent that such institutes, centers and agen-
cies have responsibilities that are related to rare diseases.
‘‘(c) USES FOR FEDERAL PAYMENTS UNDER COOP-
ERATIVE AGREEMENTS OR GRANTS.—Federal payments
made under a cooperative agreement or grant under sub-
section (a) may be used for—
‘‘(1) staffing, administrative, and other basic
operating costs, including such patient care costs as
are required for research;
‘‘(2) clinical training, including training for al-
lied health professionals, continuing education for
health professionals and allied health professions
personnel, and information programs for the public
with respect to rare diseases; and
‘‘(3) clinical research and demonstration pro-
grams.
‘‘(d) PERIOD OF SUPPORT; ADDITIONAL PERIODS.—
Support of a center under subsection (a) may be for a
period of not to exceed 5 years. Such period may be ex-
tended by the Director for additional periods of not more
than 5 years if the operations of such center have been
reviewed by an appropriate technical and scientific peer
review group established by the Director and if such group
has recommended to the Director that such period should
be extended.
‘‘(e) AUTHORIZATION OF APPROPRIATIONS.—For the
purpose of carrying out this section, there are authorized
to be appropriated such sums as already have been appro-
priated for fiscal year 2002, and $20,000,000 for each of
the fiscal years 2003 through 2006.’’.