Mr. Chairman and distinguished members of this Committee, thank you for allowing the National Organization for Rare Disorders (NORD) the opportunity to testify before you today regarding funding for the Office of Rare Diseases (ORD) at the National Institutes of Health (NIH). My name is Diane Dorman, Vice President for Public Policy, and as a representative of NORD and the rare disease community, I want to express my deep appreciation for everything this Committee has done to ensure increased funding for biomedical research at the NIH.

Rare diseases are defined in statute as any disease, syndrome or disorder affecting fewer than 200,000 people in the United States. Although the prevalence of each of the 6,000 known "orphan" diseases is rare, in the aggregate, they affect approximately 25 million Americans. According to National Commission on Orphan Diseases (DHHS, 1989) estimates, only 30 percent of those patients receive a diagnosis in three to five years after the onset of symptoms. Fifteen percent, or approximately 3.7 million people, wait seven years or more.

Additionally, rare disease patients are particularly impacted by the cost of diagnosis, treatment and ancillary support services that can reduce a family to poverty. Patients must also often travel long distances to academic hospitals to see the few specialists who work on their particular disease.

Rare "orphan" diseases include such better-known diseases as sickle cell anemia, Tay-Sachs, hemophilia, Fanconi's anemia, Tourette syndrome, Lou Gehrig's disease and scleroderma. They also include obscure diseases such as:

• Charcot-Marie-Tooth disease - a hereditary neurological disorder marked by progressive muscle weakness and atrophy, particularly in the legs;
  
  
• Trisomy 13 syndrome - a chromosomal disorder in which an extra copy of all or part of chromosome 13 is present, resulting in a variable range of developmental delays, retardation and widespread anatomical and internal organ abnormalities;
  
  
• Sturge-Weber syndrome - a condition characterized by excessive blood vessel growth, accumulation of calcium in the brain, and seizures;
  
  
• Fibrodysplasia osssificans progressiva (FOP) - a condition that transforms muscles, tendons, and ligaments into bone. Internal organs are not affected and so patients can live normal life spans unless they "die from complications secondary to their immobility, like pneumonia, falls, or choking on aspirated food."
  
  
• Progeria - a genetic disorder affecting one in 8 million newborns worldwide causing premature aging. Within a year after birth, growth rate slows and their appearance begins to change. Children become bald and their skin ages dramatically. They suffer with symptoms typical of the elderly. Death occurs on average at age 13. There are no diagnostic tests or treatments.

In 1983, Congress passed the Orphan Drug Act (Pub. L. 97-414) to address the unmet need to develop new treatments, diagnostics and cures for rare diseases and disorders. The Act created financial incentives such as marketing exclusivity, tax credits and research grants to encourage the development of orphan drugs. These incentives were created because it was recognized that the high cost of research and development, coupled with the low return on investment, discouraged the pharmaceutical industry from developing products for extremely small patient populations. A decade later, the Office of Rare Diseases (ORD) was established within the Office of the Director at the NIH to promote research and collaboration; bridge the gap between basic and translational research on orphan diseases; stimulate and coordinate research on rare diseases where none exists; and, take advantage of scientific opportunities. Since 1993, the ORD has also worked with other Institutes and Centers to establish research priorities and develop collaborative research protocols to encourage the exchange of ideas among investigators, voluntary patient support groups and NIH research staff. All of this work was done with funding of only $2.1 million in 2001. (Attachment I)

In 1996, the Senate Appropriations Committee requested a report on the coordination of rare diseases research (Senate Report No. 104-145, pp. 110-111). In response to that request the NIH convened a Special Emphasis Panel to develop recommendations for stimulating research on rare diseases and conditions, utilizing research resources, coordinating rare diseases research and development activities, and identifying emerging opportunities in rare diseases research. One of the primary findings of the Panel was that "barriers to rare diseases research" do exist within the NIH and that there is "inadequate funding for clinical research" for rare diseases (Summary: Attachment II).

It was not until 2002 when the President's FY 2002 budget narrative for the NIH called for "additional scientific workshops and regional centers of excellence for research on rare diseases" that funding was increased to $10.3 million.

With this increased funding, the ORD published its first Request for Application (RFA: RR-03-008) on February 27, 2003 (Attachment II). Researchers nationwide have applied for Rare Diseases Clinical Research Centers and a Data and Technology Coordinating Center, which together will form the Rare Diseases Clinical Research Network. The purpose of this cooperative research network "is to facilitate clinical research in rare diseases."

NORD and the entire rare disease community are deeply indebted to this Committee for its commitment and its continuing support. This support is vital to the rare disease community, but it assumes even greater significance when we remember that "understanding the pathogenesis of rare diseases may advance our understanding of more common medical disorders."

Dr. Frances Collins, director of the National Human Genome Research Institute, may have said it best when asked to comment about the discovery of the progeria gene this past April: "The implications of our work may extend far beyond progeria to each and every human being. What we learn about the molecular basis of this model of premature aging may provide us with a better understanding of what occurs in the body as we all grow older."

Today, twenty years after the passage of the Orphan Drug Act, I am here to ask that this Committee renew its commitment to the 25 million Americans affected by rare diseases, and also millions of others nationwide affected by more common diseases who may someday benefit from the research conducted on rare diseases. I am asking that the Office of Rare Diseases at the National Institutes of Health (NIH) be funded as authorized by the Rare Diseases Act, H.R. 4013, which was introduced by Representative John Shimkus and signed into law by President Bush on November 6, 2002 (Pub. L. 107-280) as follows:

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.

(d) AUTHORIZATION OF APPROPRIATIONS. - $4 million for each of five years.

Rare Diseases Regional Centers of Excellence

SEC. 404G. (a) 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 private nonprofit entities to pay all or part of the cost of planning, establishing, or strengthening, and providing 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.

(e) AUTHORIZATION OF APPROPRIATIONS. - $20 million for each of five years.

Again, thank you for your continuing commitment to the National Institutes of Health and your recognition today of the unmet needs of those who suffer with rare "orphan" diseases.

NORD is a unique federation of voluntary health organizations and over 5,000 individual patients, healthcare providers and clinical researchers dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

Attachment I

Office of Rare Diseases
National Institutes of Health
Funding Levels, 1996 to Present

Attachment II

SPECIAL EMPHASIS PANEL OF THE NIH ON THE COORDINATION OF
RARE DISEASES RESEARCH
SUMMARY
January 2001

Language from the United States Senate Appropriations Committee report on the budget of the National Institutes of Health (NIH) for Fiscal Year 1996 requested a report on the coordination of rare diseases research. The specific language follows:

"The Committee recognizes that NIH makes considerable resources available to support research on the rare diseases and conditions. The Committee requests that the Office of Rare Disease Research, working jointly with the research institutes and centers of the NIH, and other Federal agencies with recommendations from voluntary health organizations, and the pharmaceutical and biotechnology industries prepare and submit to the Committee prior to the hearings for fiscal year 1997 a report on steps to coordinate rare disease research programs within existing research funds and resources." (Senate Report Number 104-145, pages 110-111)

To respond to this request, NIH, through its Office of Rare Diseases (ORD), convened a Special Emphasis Panel. The Panel met on May 27-28, 1997, and again on March 30, 1998, and developed recommendations for stimulating research on rare diseases and conditions, utilizing research resources, coordinating rare diseases research and development activities, and identifying emerging opportunities in rare diseases research. This report presents the Panel's recommendations developed at its last meeting. Also attached as an appendix to this report is a copy of the mandated annual report to the DHHS Orphan Products Board on the rare diseases and conditions research activities of the NIH for 1999. This appended report highlights the rare diseases and conditions research efforts in most of the NIH Institutes and Centers for that year, many of which were the subject of the Special Emphasis Panel's review.

RECOMMENDATIONS
STIMULATING RESEARCH ON RARE DISEASES AND CONDITIONS

UTILIZING RESEARCH RESOURCES

COORDINATION OF RARE DISEASES RESEARCH AND DEVELOPMENT ACTIVITIES

IDENTIFYING EMERGING OPPORTUNITIES IN RARE DISEASES RESEARCH

A complete copy of the report may be accessed through the Office of Rare Diseases web site at http://www.rarediseases.info.nih.gov.