[Congressional Record Volume 141, Number 4 (Monday, January 9, 1995)]
[Senate]
[Pages S677-S678]
From the Congressional Record Online through the Government Publishing Office [www.gpo.gov]

      By Mr. HATFIELD:
  S. 184. A bill to establish an Office for Rare Disease Research in 
the National Institutes of Health, and for other purposes; to the 
Committee on Labor and Human Resources.


            the office for rare disease research act of 1995

 Mr. HATFIELD. Mr. President, last October, I was distressed as 
I confronted two painful losses: the death of a very dear friend of 
mine, Eric Lopez, and the demise of my legislation to create an Office 
for Rare Disease Research at the National Institutes of Health. It was 
devastating yet apt that both were lost at the same time, because it 
was Eric and his rare debilitating disease, Epidermolysis bullosa, that 
originally inspired me to introduce this legislation.
  I am proud to announce that the National Institute of Arthritis, 
Musculoskeletal and Skin Diseases will rename the National Registry of 
Epidermolysis bullosa in honor of Eric Lopez. His courage and 
perseverance helped to raise the public's awareness of this disease 
through the establishment of the Dystrophic Epidermolysis Bullosa 
Research Association, known as DEBRA.
  Eric personalized the plight of a large group of Americans afflicted 
by rare diseases. Last session, my legislation passed the Senate but 
ran out of time in the House. We were so close to enacting this bill 
that we cannot justify its dissolution now. In the memory of Eric and 
many others like him, let us endorse this legislation with unanimous 
consent.
  Diseases are labeled as rare when less than 200,000 people are 
afflicted; however, grouped together, these diseases affect over 10 to 
20 million Americans. Collectively, the term ``rare'' appears to be a 
misnomer. A large portion of our population is battling diseases that 
are not only extremely difficult to diagnose but also difficult to 
treat and almost impossible to cure. These individuals exist as islands 
without answers, without support systems, and paramount, without hope. 
Ambiguous symptoms involving multiple organ systems lead to years of 
frustration in testing and misdiagnosis for the sufferers. The medical 
profession also shares in this frustration as the information to aid in 
diagnosis is nonexistent or scarce at best. There are currently no 
centers of research, information, or support for the patient or the 
physician. In today's environment of progressive health care, this is a 
travesty.
  Research is the most vital aspect of medicine, as we look to 
discovering cures. NIH has 20 Institutes of research that are centered 
around groups of diseases or organ systems. Rarely do these separate 
organizations communicate and coordinate research initiatives. 
Obviously, such a fragmented approach further worsens the status of 
research on multisystemic diseases, such as the rare diseases, and 
lends itself to repetition and duplication of [[Page S678]] projects. 
Unlike the larger, more visible diseases such as heart and kidney 
disease, oftentimes the rare diseases are lost in the bureaucratic 
shuffle.

  My legislation avoids the establishment of yet another bureaucratic 
center by delineating and defining the duties of the already existing 
Office of the Director of NIH. Foremost, the Office will formulate a 
strategic plan for rare disease research which will support research, 
award grants and contracts, and coordinate efforts among Institutes and 
other Federal agencies. Identification of present research projects, 
both private and Federal, and of opportunities and needs for future 
research will assist in preventing unnecessary duplication. 
Coordination among the Institutes will facilitate research efforts and 
thereby increase the effectiveness of every Federal dollar expended.
  In addition, the bill establishes a National Advisory Council on Rare 
Disease Research, which will be composed of individuals appointed by 
the Director of the NIH. The Council will review and assess research 
needs, priorities, and funding to advise the NIH on the development and 
implementation of the strategic research plan.
  Finally, my legislation establishes a national research database, 
accessible to both medical professionals and the public. This will 
connect researchers with patients for clinical trials, provide 
physicians and individuals with information on trials, and connect 
patients with support groups. This database will provide the necessary 
information to cohesively plan an attack on these diseases.
  In these times of tightening fiscal resources, Federal expenditures 
need to be stringently examined for worthiness and applicability to the 
majority of population. Despite the inability to put a dollar value on 
human suffering, it is still our duty as legislators to address and 
hopefully diminish it. The legislation I reintroduce today has the 
merits of assisting many Americans in desperate need and, not necessity 
by requiring further expenditure of Federal dollars. The funding for 
this program was included in the appropriations bill for NIH in fiscal 
year 1995 and, therefore, is already available. This is an ideal 
opportunity to demonstrate that humanitarianism can coexist with 
financial acumen. Let us open this congressional session with a 
bipartisan triumph and enact this legislation as soon as possible.
  I ask for unanimous consent that the text of the bill, along with a 
letter from the National Organization of Rare Disorders be placed in 
the Record.
  There being no objection, the material was ordered to be printed in 
the Record, as follows:

                                 S. 184

       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 ``Office for Rare Disease 
     Research Act of 1995''.

     SEC. 2. ESTABLISHMENT OF OFFICE FOR RARE DISEASE RESEARCH.

       Part A of title IV of the Public Health Service Act (42 
     U.S.C. 281 et seq.) is amended by adding at the end thereof 
     the following new section:

     ``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 purpose 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.''.
                                                                    ____

                                         National Organization for


                                         Rare Disorders, Inc.,

                             New Fairfield, CT, November 30, 1994.
     Hon. Mark O. Hatfield,
     Hart Senate Office Building,
     Washington, DC.

     Attention: Meagan Sexauer.

       Dear Senator Hatfield: The National Organization for Rare 
     Disorders (NORD) fully supports your effort to enact 
     legislation to create the Office for Rare Disease Research at 
     NIH. As you know, creation of a central office to coordinate 
     the various research activities on behalf of these diseases 
     was the primary recommendation of the National Commission on 
     Orphan Diseases. The Commission's report was submitted to 
     Congress in 1989, and until now Congress has not acted upon 
     those recommendations.
       The scope of the orphan disease problem is enormous. There 
     are more than 5,000 of these disorders, each one affecting 
     fewer than 200,000 Americans. Combined together all rare 
     disorders touch the lives of an estimated 20 million 
     Americans. They cripple, maim and kill thousands of people 
     every year, yet little research is being pursued on most of 
     these illnesses. The National Institutes of Health (NIH) 
     support the vast majority of biomedical research on rare 
     disorders because there is little interest in the private 
     sector to pursue development of treatments that have such 
     limited commercial value due to their small potential 
     markets.
       The various institutes of NIH are responsible for research 
     on diseases that effect specific body systems. Yet many rare 
     diseases cross the boundaries of each institutes' 
     responsibilities. For example, a rare disease may have 
     neurological and immunological components (NINDS and NIAID), 
     dermatological symptoms (NIAMS), effect infants and children 
     (NICHD) and be inherited (NIGMS and the Human Genome Center). 
     An Office for Rare Disease Research at NIH would coordinate 
     these various research efforts in order to avoid duplication 
     and waste of precious resources. It would also develop and 
     operate a rare disease clinical database so that patients and 
     physicians could locate research projects relevant to their 
     disease. Conversely, since 47% of rare disease researchers 
     complain that it is difficult to locate a sufficient number 
     of patients to participate in clinical protocols, the Office 
     and the database would greatly alleviate this problem.
       Senator Hatfield, so much of public policy is directed 
     toward ``major'' health threats; rare disorders are treated 
     as if they are ``minor'' problems. The suffering is quite 
     real, the morbidity and mortality is immeasurable, and the 
     hopelessness of knowing that research is not being pursued is 
     devastating not only to 20 million patients but to their 
     families and friends. The suffering of these people is not 
     ``minor,'' and the frustrations of rare disease scientists is 
     compelling. When they cannot get funding for their research, 
     when they cannot find a commercial sponsor to market a new 
     treatment, when they cannot locate patients for clinical 
     trials, they are forced to change their focus and move to 
     diseases that have more chance of attracting funds.
       The Office of Rare Disease Research will provide hope and 
     comfort to masses of Americans with rare disorders who 
     continue to fall through the cracks of biomedical research, 
     and a safe haven for scientists who have devoted their 
     careers to these devastating illnesses. It will also signify 
     for the first time that the federal government, through a 
     carefully planned and coordinated program, is determined to 
     eradicate orphan diseases.
           Very truly yours,
                                                  Abbey S. Meyers,

                                                President.

                                 ______