[Senate Report 104-79]
[From the U.S. Government Publishing Office]



                                                       Calendar No. 104
104th Congress                                                   Report
                                 SENATE

 1st Session                                                     104-79
_______________________________________________________________________


 
              OFFICE FOR RARE DISEASE RESEARCH ACT OF 1995

                                _______


      May 4 (legislative day, May 1), 1995.--Ordered to be printed

_______________________________________________________________________


   Mrs. Kassebaum, from the Committee on Labor and Human Resources, 
                        submitted the following

                              R E P O R T

                         [To accompany S. 184]
    The Committee on Labor and Human Resources to which was 
referred the bill (S. 184) to establish an Office for Rare 
Disease Research in the National Institutes of Health, and for 
other purposes, having considered the same, reports favorably 
thereon without amendment and recommends that the bill do pass.
                                CONTENTS

                                                                   Page
  I. Summary of bill..................................................1
 II. Background and need for legislation..............................2
III. Legislative history and committee action.........................3
 IV. Committee views..................................................3
  V. Cost estimate....................................................4
 VI. Regulatory impact statement......................................5
VII. Section-by-section analysis......................................5
VIII.
     Changes in existing law..........................................6
                         I. Summary of the Bill

    The legislation codifies the Office for Rare Disease 
Research within the Office of the Director of the National 
Institutes of Health (NIH). The Director of the National 
Institutes of Health will appoint a Director of the Office.
    The purpose of the Office is to promote and coordinate 
research on rare disease through the development of a strategic 
research plan and a clinical research database. The act 
establishes an advisory council to provide advice for carrying 
out the activities of the Office to the Director of the Office 
for Rare Disease Research.
    The Director of the Office will develop a strategic 
research plan; disseminate and coordinate information among the 
Institutes and the public; support research training; identify 
research opportunities for the NIH; develop and maintain a 
research database on current government sponsored clinical 
research; determine the need for registries of research 
subjects and epidemiological studies of rare disease 
populations; and prepare biennial reports on the activities of 
the Office and submit them to the Secretary and the Congress.

                II. Background and Need for Legislation

    There are over 5,000 rare diseases. Between 10 and 20 
million Americans suffer from such diseases in this country. 
Each rare disease affects less than 200,000 Americans. These 
illnesses can be as devastating to those afflicted as cancer or 
heart disease are to larger numbers of patients. Marfan's 
syndrome, Supranuclear palsy, Cystic Fibrosis, Addison Disease, 
Duchenne's Muscular Dystrophy, and Sarcoidosis are a few 
examples of rare diseases that have a profound impact on the 
quality of life and life expectancy.
    Most physicians are unfamiliar with these diseases, and 
early diagnosis is often missed. Sometimes patients must travel 
across the country for treatment, since few physicians are 
trained in treating such diseases.
    The National Institutes of Health's history of sponsoring 
rare disease research is well established and recognized. Each 
institute supports research on rare diseases. For example, the 
National Institute of Allergy and Infectious Diseases supports 
research on numerous diseases that are classified as rare--
including Hemophilus influenzae, Lyme Disease, Chronic Fatigue 
Syndrome, and Hepatitis C. The National Institute of Child 
Health and Human Development supports research in the 
prevention, diagnosis, evaluation and treatment of many rare 
diseases and disorders including PKU, cystic fibrosis, sudden 
infant death syndrome, osteogenesis imperfecta, cystinosis and 
Alpha 1-Antitrypsin Deficiency. The National Heart, Lung and 
Blood Institute supports research on rare diseases such as 
cardiomyopathies, cystic fibrosis, sudden and unexplained death 
in sleep, familial lipid disorders, Raynaud's Syndrome, 
pulmonary hypertension, sickle cell anemia, Cooley's anemia and 
Fanconi anemia. In addition, the NIH supports research in 
Wilson's Disease, Wilm's Tumor, Osteosarcoma, Hairy Cell 
Leukemia, Juvenile Rheumatoid Arthritis, Fragile X Syndrome, 
Sjogren's Syndrome, Amyolateral Lateral Sclerosis, Multiple 
Chemical Sensitivity and many other rare diseases.
    A major concern of the rare disease community is the lack 
of easy access to the latest research findings and the location 
of ongoing and planned rare disease research studies. There are 
many institutes at the NIH, each charged with undertaking 
research in its respective field, with little coordination 
among them on rare disease. Many rare diseases affect multiple 
organ systems, so research on those diseases may be in the 
jurisdiction of several institutes. For example, scleroderma is 
a connective tissue disease of unknown origin, characterized by 
excessive collagen deposition in the skin and various vital 
organs including lung, heart and GI tract. The skin 
manifestations are the responsibility of the National Institute 
of Arthritis and Musculoskeletal and Skin Diseases; the 
pulmonary and cardiac manifestations fall under the National 
Heart, Lung and Blood Institute; the gastrointestinal 
complications are investigated by the National Institute of 
Diabetes and Digestive and Kidney Diseases; and genetic 
research may be pursued at the Human Genome Center.
    The question before Congress is one of how to coordinate 
government-sponsored research on rare diseases in such a way as 
to maximize efficiency by reducing unnecessary duplication. The 
Office for Rare Disease Research at the NIH will coordinate the 
activities of all the Institutes and execute programs with a 
minimal waste of time and funds.
    The purpose of this legislation is to provide a focal point 
within the NIH to draw attention to rare diseases and to 
fashion a consensus for a strategic research vision and a 
clinical database which will enhance ongoing research in rare 
diseases. The establishment of a central Office will result in 
an inventory of the rare disease research currently being 
conducted at the NIH and will uncover opportunities for further 
development as they occur.

             III. Legislative History and Committee Action

    S. 184 was introduced on January 9, 1995, by Senator 
Hatfield. The bill was referred to the Committee on Labor and 
Human Resources.
    In the executive session of the Committee on Labor and 
Human Resources held on Wednesday, March 29, 1995, S. 184 was 
brought up for consideration. The bill was adopted by voice 
vote and favorably reported to the full Senate.

                          IV. Committee Views

    The committee recognizes that between 10 and 20 million 
Americans suffer from rare diseases. The plight of those who 
endure these rare diseases is compounded by the reality that, 
oftentimes, little or no research is being conducted into the 
causes, treatments, and cures of these diseases. Those with 
rare diseases must maneuver among what seems an endless morass 
of fragmented federal agencies in the hope of receiving 
information about ongoing research on their specific ailment, 
as rare disease research is frequently underrepresented in the 
private sector.
    The Office is charged with formulating a strategic research 
plan by which to execute rare disease research. This 
comprehensive plan is designed to bring about cooperation among 
the 20 institutes of the NIH. The Office is directed to 
identify current research supported by the federal government, 
opportunities and the needs and priorities for rare disease 
research, so as to provide each Institute with sufficient 
relevant information about ongoing research to prevent 
unintended duplication. In addition, the Office can make 
recommendations about where projects may be coordinated and/or 
consolidated. These activities will be overseen by the Director 
of the Office in consultation with the Advisory Council 
established in the legislation.
    The legislation also calls for a database of ongoing 
government-sponsored clinical research projects. This database, 
which the committee encourages be made accessible to the 
public, will make it possible to connect researchers with 
patients for clinical trials, provide physicians and 
individuals with information on trials, and connect patients 
with support groups--a vital part of an individual's physical 
and psychological coping with rare disease.
    The committee believes that the greatest hope for people 
suffering with rare diseases is the possibility of medical 
breakthroughs achieved through biomedical research.

                            V. Cost Estimate

                                     U.S. Congress,
                               Congressional Budget Office,
                                    Washington, DC, April 26, 1995.
Hon. Nancy Landon Kassebaum,
Chairman, Committee on Labor and Human Resources,
U.S. Senate, Washington, DC.
    Dear Madam Chairman: The Congressional Budget Office has 
prepared the enclosed cost estimate for S. 184, the Office for 
Rare Disease Research Act of 1995, as ordered reported by the 
Senate Committee on Labor and Human Resources on March 29, 
1995.
    Enactment of S. 184 would not affect direct spending or 
receipts. Therefore, pay-as-you-go procedures would not apply 
to this bill.
    If you wish further details on this estimate, we will be 
pleased to provide them.
            Sincerely,
                                              James L. Blum
                                   (For June E. O'Neill, Director).
    Enclosure.
               congressional budget office cost estimate

    1. Bill number: S. 184.
    2. Bill title: Office for Rare Disease Research Act of 
1995.
    3. Bill status: As ordered reported by the Senate Committee 
on Labor and Human Resources on March 29, 1995.
    4. Bill purpose: S. 184 would establish an Office for Rare 
Disease Research within the National Institutes of Health 
(NIH).
    5. Estimated cost to the Federal Government: The following 
table summarizes the estimated costs of establishing and 
operating an Office for Rare Disease Research, assuming 
appropriations of the necessary amounts.

                        FEDERAL GOVERNMENT COSTS                        
                [By fiscal year, in millions of dollars]                
------------------------------------------------------------------------
                                        1996   1997   1998   1999   2000
------------------------------------------------------------------------
Estimated authorizations of                                             
 appropriations......................      1      1      2      2      2
Estimated outlays....................  (\1\)      1      1      2      2
------------------------------------------------------------------------
\1\ Less than $500,000.                                                 

    The costs of this bill fall within budget function 550.
    6. Basis of estimate: An office currently exists that meets 
some of the requirements in the bill and is funded at $150,000 
for fiscal year 1995. The bill would require the office to 
support training in the conduct of research on rare diseases, 
which is not done by the existing office. According to NIH, the 
average cost of a three-year research fellowship is $60,000 per 
year. If the Office for Rare Disease Research funded 5 research 
fellowships per year, the cost would be $300,000 in fiscal year 
1996, increasing to $1 million per year for fiscal years 1998 
through 2000. In addition, the bill would require the office to 
establish and maintain a clinical research database. CBO 
estimates that this effort would cost about $600,000 in 1996 
and about $500,000 in subsequent years. Disseminating 
information and establishing an advisory council would cost 
$150,000 annually.
    This estimated assumes that all authorizations are fully 
appropriated at the beginning of each fiscal year. Outlays are 
estimated using spendout rates computed by CBO on the basis of 
recent program data for NIH.
    7. Pay-as-you-go considerations: None.
    8. Estimated cost to State and local governments: None.
    9. Estimate comparison: None.
    10. Previous CBO estimate: None.
    11. Estimate prepared by: Murray Ross.
    12. Estimate approved by: Robert A. Sunshine, for Paul Van 
de Water, Assistant Director for Budget Analysis.
                    VI. Regulatory Impact Statement

    The committee has determined that there will be no increase 
in the regulatory burden or paperwork as the result of this 
bill.

                    VII. Section-by-Section Analysis

                         section 1. short title

    Section 1 provides that the act be cited as ``Office for 
Rare Disease Research Act of 1955''.

      section 2. establishment of office for rare disease research

    Section 2 amends part A of title IV of the Public Health 
Service Act (42 U.S.C. 281 et seq.) by adding a new Sec. 404F., 
Office for Rare Disease Research.
    Subsection (a) establishes within the Office of the 
Director of the National Institutes of Health an Office for 
Rare Disease Research. The Director of the Office would be 
appointed by the Director of the National Institutes of Health.
    Subsection (b) provides the purpose of the Office. The 
purpose of the Office is to promote and coordinate the conduct 
of research on rare disease through a strategic research plan 
and to establish and manage a rare disease research clinical 
database.
    Subsection (c) requires the Secretary of Health and Human 
Services to establish an Advisory Council to provide advice to 
the Director of the Office for Rare Disease Research for 
carrying out the duties of the Office.
    Subsection (d) requires the Director of the Office to 
develop a strategic research plan; disseminate and coordinate 
information among the Institutes and the public; support 
research training; identify research opportunities for the NIH; 
develop and maintain a research database on current government 
sponsored clinical research; determine the need for registries 
of research subjects and epidemiological studies of rare 
disease populations; and prepare biennial reports on the 
activities of the Office and submit them to the Secretary and 
the Congress.
                     VIII. Changes in Existing Law

    In compliance with rule XXVI paragraph 12 of the Standing 
Rules of the Senate, the following provides a print of the 
statute or the part or section thereof to be amended or 
replaced (existing law proposed to be omitted is enclosed in 
black brackets, new matter is printed in italic, existing law 
in which no change is proposed is shown in roman):

                       PUBLIC HEALTH SERVICE ACT

          * * * * * * *

                 TITLE IV--NATIONAL RESEARCH INSTITUTES

                 Part A--National Institutes of Health

           organization of the national institutes of health

    Sec. 401. (a). * * *
          * * * * * * *
SEC. 404F. OFFICE FOR RARE DISEASE RESEARCH.

    (a) Establishment.--There is established within the Office 
of the Director of the National Institutes of Health an office 
to be known as the Office for Rare Disease Research (in this 
section referred to as the ``Office''). The Office shall be 
headed by a director, who shall be appointed by the Director of 
the National Institutes of Health.
    (b) Purpose.--The purposes of the Office is to promote and 
coordinate the conduct of research on rare diseases through a 
strategic research plan and to establish and manage a rare 
disease research clinical database.
    (c) Advisory Council.--The Secretary shall establish an 
advisory council for the purpose of providing advice to the 
director of the Office concerning carrying out the strategic 
research plan and other duties under this section. Section 222 
shall apply to such council to the same extent and in the same 
manner as such section applies to committees or councils 
established under such section.
    (d) Duties.--In carrying out subsection (b), the director 
of the Office shall--
          (1) develop a comprehensive plan for the conduct and 
        support of research on rare diseases;
          (2) coordinate and disseminate information among the 
        institutes and the public on rare diseases;
          (3) support research training and encourage the 
        participation of a diversity of individuals in the 
        conduct of rare disease research;
          (4) identify projects or research on rare diseases 
        that should be conducted or supported by the National 
        Institutes of Health;
          (5) develop and maintain a central database on 
        current government sponsored clinical research projects 
        for rare diseases;
          (6) determine the need for registries of research 
        subjects and epidemiological studies of rare disease 
        populations; and
          (7) prepare biennial reports on the activities 
        carried out or to be carried out by the Office and 
        submit such reports to the Secretary and the Congress.
          * * * * * * *