H. R. 4013
One Hundred Seventh Congress
of the
United States of America
AT THE SECOND SESSION
Begun and held at the City of Washington on Wednesday,
the twenty-third day of January, two thousand and two
An Act
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 Representatives 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 findings:
(1) Rare diseases and disorders are those which affect
small patient populations, typically populations 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 dys-
trophy.
(2) For many years, the 25,000,000 Americans suffering
from the over 6,000 rare diseases and disorders were denied
access to effective medicines because prescription drug manu-
facturers 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 treatments.
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 pro-
vide services and to lobby on behalf of patients with rare
diseases and disorders. NORD was instrumental in pressing
Congress for legislation to encourage the development of orphan
drugs.
(4) The Orphan Drug Act created financial incentives for
the research and production of such orphan drugs. New Federal
programs at the National Institutes of Health and the Food
and Drug Administration encouraged clinical research and
commercial product development for products that target rare
diseases. An Orphan Products Board was established to pro-
mote the development of drugs and devices 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
H. R. 4013—2
United States and more than 800 additional drugs are in the
research pipeline.
(6) Despite the tremendous success of the Orphan Drug
Act, rare diseases and disorders deserve greater emphasis in
the national biomedical research enterprise. The Office of Rare
Diseases at the National Institutes of Health was created in
1993, but lacks a statutory authorization.
(7) The National Institutes of Health has received a
substantial increase in research funding from Congress for
the purpose of expanding the national investment of the United
States in behavioral and biomedical research.
(8) Notwithstanding such increases, funding for rare dis-
eases and disorders at the National Institutes of Health has
not increased appreciably.
(9) To redress this oversight, the Department of Health
and Human Services has proposed the establishment of a net-
work of regional centers of excellence for research on rare
diseases.
(b) PURPOSES.—The purposes of this Act are to—
(1) amend the Public Health Service Act to establish an
Office of Rare Diseases at the National Institutes of Health;
and
(2) increase the national investment in the development
of diagnostics and treatments for patients with rare diseases
and disorders.
SEC. 3. NIH OFFICE OF RARE DISEASES AT NATIONAL INSTITUTES
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 established 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’), appointed 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 con-
ducting 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
activities, including scientific workshops and symposia to
identify research opportunities for rare diseases.
‘‘(B) The Director shall, with respect to rare diseases,
promote coordination and cooperation among the national
research institutes 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.