II

Calendar No. 298

107TH CONGRESS

1ST SESSION S. 1379

[Report No. 107–129]

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 SENATE OF THE UNITED STATES

AUGUST 3, 2001

Mr. KENNEDY (for himself, Mr. HATCH, Mr. HOLLINGS, Mr. BINGAMAN, Mr.

DURBIN, Mr. JEFFORDS, Mrs. CLINTON, Mr. SMITH of Oregon, Ms. COLLINS, and Mr. KERRY) introduced the following bill; which was read twice

and referred to the Committee on Health, Education, Labor, and Pensions

DECEMBER 18, 2001

Reported by Mr. KENNEDY, with an amendment

[Strike out all after the enacting clause and insert the part printed in italic]

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.

1 Be it enacted by the Senate and House of Representa2 tives of the United States of America in Congress assembled,
2

•S 1379 RS

1 SECTION 1. SHORT TITLE.

2 This Act may be cited as the ‘‘Rare Diseases Act of

3 2001’’.

4 SEC. 2. FINDINGS AND PURPOSES.

5 (a) FINDINGS.—Congress makes the following find6 ings:

7 (1) Rare diseases and disorders are those which

8 affect small patient populations, typically popu9 lations smaller than 200,000 individuals in the

10 United States. Such diseases and conditions include

11 Huntington’s disease, amyotrophic lateral sclerosis

12 (Lou Gehrig’s disease), Tourette syndrome, Crohn’s

13 disease, cystic fibrosis, cystinosis, and Duchenne

14 muscular dystrophy.

15 (2) For many years, the 25,000,000 Americans

16 suffering from the over 6,000 rare diseases and dis17 orders were denied access to effective medicines be18 cause prescription drug manufacturers could rarely

19 make a profit from marketing drugs for such small

20 groups of patients. The prescription drug industry

21 did not adequately fund research into such treat22 ments. Despite the urgent health need for these

23 medicines, they came to be known as ‘‘orphan

24 drugs’’ because no companies would commercialize

25 them.
3

•S 1379 RS

1 (3) During the 1970s, an organization called

2 the National Organization for Rare Disorders

3 (NORD) was founded to provide services and to

4 lobby on behalf of patients with rare diseases and

5 disorders. NORD was instrumental in pressing Con6 gress for legislation to encourage the development of

7 orphan drugs.

8 (4) The Orphan Drug Act created financial in9 centives for the research and production of such or10 phan drugs. New federal programs at the National

11 Institutes of Health and the Food and Drug Admin12 istration encouraged clinical research and commer13 cial product development for products that target

14 rare diseases. An Orphan Products Board was estab15 lished to promote the development of drugs and de16 vices for rare diseases or disorders.

17 (5) Before 1983, some 38 orphan drugs had

18 been developed. Since the enactment of the Orphan

19 Drug Act, more than 220 new orphan drugs have

20 been approved and marketed in the United States

21 and more than 800 additional drugs are in the re22 search pipeline.

23 (6) Despite the tremendous success of the Or24 phan Drug Act, rare diseases and disorders deserve

25 greater emphasis in the national biomedical research
4

•S 1379 RS

1 enterprise. The Office of Rare Diseases at the Na2 tional Institutes of Health was created in 1993, but

3 lacks a statutory authorization.

4 (7) The National Institutes of Health has re5 ceived a substantial increase in research funding

6 from Congress for the purpose of expanding the na7 tional investment of the United States in behavioral

8 and biomedical research.

9 (8) Notwithstanding such increases, funding for

10 rare diseases and disorders at the National Insti11 tutes of Health has not increased appreciably.

12 (9) To redress this oversight, the Department

13 of Health and Human Services has proposed the es14 tablishment of a network of regional centers of excel15 lence for research on rare diseases.

16 (10) The Food and Drug Administration sup17 ports small clinical trials through Orphan Products

18 Research Grants. Such grants embody successful

19 partnerships of government and industry, and have

20 led to the development of at least 23 drugs and four

21 medical devices for rare diseases and disorders. Yet

22 the appropriations in Fiscal Year 2001 for such

23 grants were less than in Fiscal Year 1995.

24 (b) PURPOSES.—The purposes of this Act are to—
5

•S 1379 RS

1 (1) amend the Public Health Service Act to es2 tablish an Office of Rare Diseases at the National

3 Institutes of Health; and

4 (2) increase the national investment in the de5 velopment of diagnostics and treatments for patients

6 with rare diseases and disorders.

7 TITLE I—NATIONAL INSTITUTES

8 OF HEALTH

9 SEC. 101. NIH OFFICE OF RARE DISEASES.

10 Title IV of the Public Health Service Act (42 U.S.C.

11 281 et seq.) is amended by inserting after section 404D

12 the following:

13 ‘‘OFFICE OF RARE DISEASES

14 ‘‘SEC. 404E. (a) ESTABLISHMENT.—There is estab15 lished within the Office of the Director of NIH an office

16 to be known as the Office of Rare Diseases (in this section

17 referred to as the ‘Office’), which shall be headed by a

18 Director (in this section referred to as the ‘Director’), ap19 pointed by the Director of NIH.

20 ‘‘(b) DUTIES.—

21 ‘‘(1) IN GENERAL.—The Director of the Office

22 shall carry out the following:

23 ‘‘(A) The Director shall recommend an

24 agenda for conducting and supporting research

25 on rare diseases through the national research

26 institutes and centers. The agenda shall provide
6

•S 1379 RS

1 for a broad range of research and education ac2 tivities, including scientific workshops and

3 symposia to identify research opportunities for

4 rare diseases.

5 ‘‘(B) The Director shall, with respect to

6 rare diseases, promote coordination and co7 operation among the national research insti8 tutes and centers and entities whose research is

9 supported by such institutes.

10 ‘‘(C) The Director shall enter into coopera11 tive agreements with and make grants for re12 gional centers of excellence on rare diseases in

13 accordance with section 404F.

14 ‘‘(D) The Director shall promote the suffi15 cient allocation of the resources of the National

16 Institutes of Health for conducting and sup17 porting research on rare diseases.

18 ‘‘(E) The Director shall promote and en19 courage the establishment of a centralized

20 clearinghouse for rare and genetic disease infor21 mation that will provide understandable infor22 mation about these diseases to the public, med23 ical professionals, patients and families.

24 ‘‘(F) The Director shall biennially prepare

25 a report that describes the research and edu-
7

•S 1379 RS

1 cation activities on rare diseases being con2 ducted or supported through the national re3 search institutes and centers, and that identi4 fies particular projects or types of projects that

5 should in the future be conducted or supported

6 by the national research institutes and centers

7 or other entities in the field of research on rare

8 diseases.

9 ‘‘(G) The Director shall prepare the NIH

10 Director’s annual report to Congress on rare

11 disease research conducted by or supported

12 through the national research institutes and

13 centers.

14 ‘‘(2) PRINCIPAL ADVISOR REGARDING ORPHAN

15 DISEASES.—With respect to rare diseases, the Direc16 tor shall serve as the principal advisor to the Direc17 tor of NIH and shall provide advice to other relevant

18 agencies. The Director shall provide liaison with na19 tional and international patient, health and scientific

20 organizations concerned with rare diseases.

21 ‘‘(c) DEFINITION.—For purposes of this section, the

22 term ‘rare disease’ means any disease or condition that

23 affects less than 200,000 persons in the United States.

24 ‘‘(d) AUTHORIZATION OF APPROPRIATIONS.—For the

25 purpose of carrying out this section, there are authorized
8

•S 1379 RS

1 to be appropriated $4,000,000 for fiscal year 2002, and

2 such sums as may be necessary for each subsequent fiscal

3 year.’’.

4 SEC. 102. RARE DISEASE REGIONAL CENTERS OF EXCEL5 LENCE.

6 Title IV of the Public Health Service Act (42 U.S.C.

7 281 et seq.), as amended by section 101, is further amend8 ed by inserting after section 404E the following:

9 ‘‘RARE DISEASE REGIONAL CENTERS OF EXCELLENCE

10 ‘‘SEC. 404F. (a) COOPERATIVE AGREEMENTS AND

11 GRANTS.—

12 ‘‘(1) IN GENERAL.—The Director of the Office

13 of Rare Diseases (in this section referred to as the

14 ‘Director’) shall enter into cooperative agreements

15 with and make grants to public or private nonprofit

16 entities to pay all or part of the cost of planning, es17 tablishing, or strengthening, and providing basic op18 erating support for regional centers of excellence for

19 clinical research into, training in, and demonstration

20 of diagnostic, prevention, control, and treatment

21 methods for rare diseases.

22 ‘‘(2) POLICIES.—A cooperative agreement or

23 grant under paragraph (1) shall be entered into in

24 accordance with policies established by the Director

25 of NIH.
9

•S 1379 RS

1 ‘‘(b) COORDINATION WITH OTHER INSTITUTES.—

2 The Director shall coordinate the activities under this sec3 tion with similar activities conducted by other national re4 search institutes, centers and agencies of the National In5 stitutes of Health and by the Food and Drug Administra6 tion to the extent that such institutes, centers and agen7 cies have responsibilities that are related to rare diseases.

8 ‘‘(c) USES FOR FEDERAL PAYMENTS UNDER COOP9 ERATIVE AGREEMENTS OR GRANTS.—Federal payments

10 made under a cooperative agreement or grant under sub11 section (a) may be used for—

12 ‘‘(1) staffing, administrative, and other basic

13 operating costs, including such patient care costs as

14 are required for research;

15 ‘‘(2) clinical training, including training for al16 lied health professionals, continuing education for

17 health professionals and allied health professions

18 personnel, and information programs for the public

19 with respect to rare diseases; and

20 ‘‘(3) clinical research and demonstration pro21 grams.

22 ‘‘(d) PERIOD OF SUPPORT; ADDITIONAL PERIODS.—

23 Support of a center under subsection (a) may be for a

24 period of not to exceed 5 years. Such period may be ex25 tended by the Director for additional periods of not more
10

•S 1379 RS

1 than 5 years if the operations of such center have been

2 reviewed by an appropriate technical and scientific peer

3 review group established by the Director and if such group

4 has recommended to the Director that such period should

5 be extended.

6 ‘‘(e) AUTHORIZATION OF APPROPRIATIONS.—For the

7 purpose of carrying out this section, there are authorized

8 to be appropriated $20,000,000 for fiscal year 2002, and

9 such sums as may be necessary for each subsequent fiscal

10 year.’’.

11 TITLE II—FOOD AND DRUG

12 ADMINISTRATION

13 SEC. 201. GRANTS AND CONTRACTS FOR THE DEVELOP14 MENT OF ORPHAN DRUGS.

15 Subsection (c) of section 5 of the Orphan Drug Act

16 (21 U.S.C. 360ee(c)) is amended to read as follows:

17 ‘‘(c) For grants and contracts under subsection (a)

18 there are authorized to be appropriated $25,000,000 for

19 fiscal year 2002, and such sums as may be necessary for

20 each subsequent fiscal year.’’.

21 SEC. 202. TECHNICAL AMENDMENT.

22 Section 527(a) of the Federal Food, Drug, and Cos23 metic Act (21 U.S.C.360cc(a)) is amended in the matter

24 following paragraph (2)—

25 (1) by striking ‘‘, of such certification,’’; and
11

•S 1379 RS

1 (2) by striking ‘‘, the issuance of the certifi2 cation,’’.

3 SECTION 1. SHORT TITLE.

4 This Act may be cited as the ‘‘Rare Diseases Act of

5 2001’’.

6 SEC. 2. FINDINGS AND PURPOSES.

7 (a) FINDINGS.—Congress makes the following findings:

8 (1) Rare diseases and disorders are those which

9 affect small patient populations, typically popu10 lations smaller than 200,000 individuals in the

11 United States. Such diseases and conditions include

12 Huntington’s disease, amyotrophic lateral sclerosis

13 (Lou Gehrig’s disease), Tourette syndrome, Crohn’s

14 disease, cystic fibrosis, cystinosis, and Duchenne mus15 cular dystrophy.

16 (2) For many years, the 25,000,000 Americans

17 suffering from the over 6,000 rare diseases and dis18 orders were denied access to effective medicines be19 cause prescription drug manufacturers could rarely

20 make a profit from marketing drugs for such small

21 groups of patients. The prescription drug industry

22 did not adequately fund research into such treat23 ments. Despite the urgent health need for these medi24 cines, they came to be known as ‘‘orphan drugs’’ be25 cause no companies would commercialize them.
12

•S 1379 RS

1 (3) During the 1970s, an organization called the

2 National Organization for Rare Disorders (NORD)

3 was founded to provide services and to lobby on behalf

4 of patients with rare diseases and disorders. NORD

5 was instrumental in pressing Congress for legislation

6 to encourage the development of orphan drugs.

7 (4) The Orphan Drug Act created financial in8 centives for the research and production of such or9 phan drugs. New federal programs at the National

10 Institutes of Health and the Food and Drug Adminis11 tration encouraged clinical research and commercial

12 product development for products that target rare dis13 eases. An Orphan Products Board was established to

14 promote the development of drugs and devices for rare

15 diseases or disorders.

16 (5) Before 1983, some 38 orphan drugs had been

17 developed. Since the enactment of the Orphan Drug

18 Act, more than 220 new orphan drugs have been ap19 proved and marketed in the United States and more

20 than 800 additional drugs are in the research pipe21 line.

22 (6) Despite the tremendous success of the Orphan

23 Drug Act, rare diseases and disorders deserve greater

24 emphasis in the national biomedical research enter25 prise. The Office of Rare Diseases at the National In-
13

•S 1379 RS

1 stitutes of Health was created in 1993, but lacks a

2 statutory authorization.

3 (7) The National Institutes of Health has re4 ceived a substantial increase in research funding from

5 Congress for the purpose of expanding the national

6 investment of the United States in behavioral and

7 biomedical research.

8 (8) Notwithstanding such increases, funding for

9 rare diseases and disorders at the National Institutes

10 of Health has not increased appreciably.

11 (9) To redress this oversight, the Department of

12 Health and Human Services has proposed the estab13 lishment of a network of regional centers of excellence

14 for research on rare diseases.

15 (10) The Food and Drug Administration sup16 ports small clinical trials through Orphan Products

17 Research Grants. Such grants embody successful part18 nerships of government and industry, and have led to

19 the development of at least 23 drugs and four medical

20 devices for rare diseases and disorders. Yet the appro21 priations in Fiscal Year 2001 for such grants were

22 less than in Fiscal Year 1995.

23 (b) PURPOSES.—The purposes of this Act are to—
14

•S 1379 RS

1 (1) amend the Public Health Service Act to es2 tablish an Office of Rare Diseases at the National In3 stitutes of Health; and

4 (2) increase the national investment in the devel5 opment of diagnostics and treatments for patients

6 with rare diseases and disorders.

7 TITLE I—NATIONAL INSTITUTES

8 OF HEALTH

9 SEC. 101. NIH OFFICE OF RARE DISEASES.

10 Title IV of the Public Health Service Act (42 U.S.C.

11 281 et seq.) is amended by inserting after section 404D the

12 following:

13 ‘‘OFFICE OF RARE DISEASES

14 ‘‘SEC. 404E. (a) ESTABLISHMENT.—There is estab15 lished within the Office of the Director of NIH an office

16 to be known as the Office of Rare Diseases (in this section

17 referred to as the ‘Office’), which shall be headed by a Direc18 tor (in this section referred to as the ‘Director’), appointed

19 by the Director of NIH.

20 ‘‘(b) DUTIES.—

21 ‘‘(1) IN GENERAL.—The Director of the Office

22 shall carry out the following:

23 ‘‘(A) The Director shall recommend an

24 agenda for conducting and supporting research

25 on rare diseases through the national research

26 institutes and centers. The agenda shall provide
15

•S 1379 RS

1 for a broad range of research and education ac2 tivities, including scientific workshops and

3 symposia to identify research opportunities for

4 rare diseases.

5 ‘‘(B) The Director shall, with respect to rare

6 diseases, promote coordination and cooperation

7 among the national research institutes and cen8 ters and entities whose research is supported by

9 such institutes.

10 ‘‘(C) The Director, in collaboration with the

11 directors of the other relevant institutes and cen12 ters of the National Institutes of Health, shall

13 enter into cooperative agreements with and make

14 grants for regional centers of excellence on rare

15 diseases in accordance with section 404F.

16 ‘‘(D) The Director shall promote the suffi17 cient allocation of the resources of the National

18 Institutes of Health for conducting and sup19 porting research on rare diseases.

20 ‘‘(E) The Director shall promote and en21 courage the establishment of a centralized clear22 inghouse for rare and genetic disease informa23 tion that will provide understandable informa24 tion about these diseases to the public, medical

25 professionals, patients and families.
16

•S 1379 RS

1 ‘‘(F) The Director shall biennially prepare

2 a report that describes the research and edu3 cation activities on rare diseases being conducted

4 or supported through the national research insti5 tutes and centers, and that identifies particular

6 projects or types of projects that should in the fu7 ture be conducted or supported by the national

8 research institutes and centers or other entities

9 in the field of research on rare diseases.

10 ‘‘(G) The Director shall prepare the NIH

11 Director’s annual report to Congress on rare dis12 ease research conducted by or supported through

13 the national research institutes and centers.

14 ‘‘(2) PRINCIPAL ADVISOR REGARDING ORPHAN

15 DISEASES.—With respect to rare diseases, the Director

16 shall serve as the principal advisor to the Director of

17 NIH and shall provide advice to other relevant agen18 cies. The Director shall provide liaison with national

19 and international patient, health and scientific orga20 nizations concerned with rare diseases.

21 ‘‘(c) DEFINITION.—For purposes of this section, the

22 term ‘rare disease’ means any disease or condition that af23 fects less than 200,000 persons in the United States.

24 ‘‘(d) AUTHORIZATION OF APPROPRIATIONS.—For the

25 purpose of carrying out this section, there are authorized
17

•S 1379 RS

1 to be appropriated $4,000,000 for fiscal year 2002, and

2 such sums as may be necessary for each subsequent fiscal

3 year.’’.

4 SEC. 102. RARE DISEASE REGIONAL CENTERS OF EXCEL5 LENCE.

6 Title IV of the Public Health Service Act (42 U.S.C.

7 281 et seq.), as amended by section 101, is further amended

8 by inserting after section 404E the following:

9 ‘‘RARE DISEASE REGIONAL CENTERS OF EXCELLENCE

10 ‘‘SEC. 404F. (a) COOPERATIVE AGREEMENTS AND

11 GRANTS.—

12 ‘‘(1) IN GENERAL.—The Director of the Office of

13 Rare Diseases (in this section referred to as the ‘Di14 rector’) shall, in collaboration with the directors of the

15 other relevant institutes and centers of the National

16 Institutes of Health, enter into cooperative agreements

17 with and make grants to public or private nonprofit

18 entities to pay all or part of the cost of planning, es19 tablishing, or strengthening, and providing basic op20 erating support for regional centers of excellence for

21 clinical research into, training in, and demonstration

22 of diagnostic, prevention, control, and treatment

23 methods for rare diseases.

24 ‘‘(2) POLICIES.—A cooperative agreement or

25 grant under paragraph (1) shall be entered into in
18

•S 1379 RS

1 accordance with policies established by the Director of

2 NIH.

3 ‘‘(b) COORDINATION WITH OTHER INSTITUTES.—The

4 Director shall coordinate the activities under this section

5 with similar activities conducted by other national research

6 institutes, centers and agencies of the National Institutes

7 of Health and by the Food and Drug Administration to

8 the extent that such institutes, centers and agencies have

9 responsibilities that are related to rare diseases.

10 ‘‘(c) USES FOR FEDERAL PAYMENTS UNDER COOPER11 ATIVE AGREEMENTS OR GRANTS.—Federal payments made

12 under a cooperative agreement or grant under subsection

13 (a) may be used for—

14 ‘‘(1) staffing, administrative, and other basic op15 erating costs, including such patient care costs as are

16 required for research;

17 ‘‘(2) clinical training, including training for al18 lied health professionals, continuing education for

19 health professionals and allied health professions per20 sonnel, and information programs for the public with

21 respect to rare diseases; and

22 ‘‘(3) clinical research and demonstration pro23 grams.

24 ‘‘(d) PERIOD OF SUPPORT; ADDITIONAL PERIODS.—

25 Support of a center under subsection (a) may be for a pe-
19

•S 1379 RS

1 riod of not to exceed 5 years. Such period may be extended

2 by the Director for additional periods of not more than 5

3 years if the operations of such center have been reviewed

4 by an appropriate technical and scientific peer review

5 group established by the Director and if such group has rec6 ommended to the Director that such period should be ex7 tended.

8 ‘‘(e) AUTHORIZATION OF APPROPRIATIONS.—For the

9 purpose of carrying out this section, there are authorized

10 to be appropriated $20,000,000 for fiscal year 2002, and

11 such sums as may be necessary for each subsequent fiscal

12 year.’’.

13 TITLE II—FOOD AND DRUG

14 ADMINISTRATION

15 SEC. 201. GRANTS AND CONTRACTS FOR THE DEVELOP16 MENT OF ORPHAN DRUGS.

17 Subsection (c) of section 5 of the Orphan Drug Act

18 (21 U.S.C. 360ee(c)) is amended to read as follows:

19 ‘‘(c) For grants and contracts under subsection (a)

20 there are authorized to be appropriated $25,000,000 for fis21 cal year 2002, and such sums as may be necessary for each

22 subsequent fiscal year.’’.
20

•S 1379 RS

1 SEC. 202. TECHNICAL AMENDMENT.

2 Section 527(a) of the Federal Food, Drug, and Cos3 metic Act (21 U.S.C.360cc(a)) is amended in the matter

4 following paragraph (2)—

5 (1) by striking ‘‘, of such certification,’’; and

6 (2) by striking ‘‘, the issuance of the certifi7 cation,’’.

Calendar No. 298

107TH CONGRESS

1ST SESSION S. 1379

[Report No. 107–129]

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.

DECEMBER 18, 2001

Reported with an amendment