At the HELP Committee Hearing “Treating Rare and Neglected Pediatric Diseases: Promoting the Development of New Treatments and Cures”

“Good morning, everyone.  We meet today to discuss a profoundly important issue:  the lack of effective treatments for rare and neglected diseases.  

“In addition to my role as chair of this committee, I also serve as chair of the Appropriations subcommittee that funds health initiatives.  In that capacity, I have had no higher priority than to ensure appropriate funding for biomedical research into diseases such as cancer, heart disease and Alzheimer’s.  I am proud of my role in doubling funding for the National Institutes of Health over a five year period (1998-2003), and securing a one-time infusion of $10 billion for NIH in the Recovery Act, last year.  Over the years, I have also championed women's health – doubling funding for breast cancer research and launching a national breast and cervical cancer early detection program.  

“Over the years, Congress has devoted extraordinary sums to research into major diseases that afflict many millions of Americans.  But we have been less generous – and less successful – in mobilizing the research community to come up with therapies and cures for rare and neglected diseases.

“In the United States, rare diseases are defined as those that affect fewer than 200,000 people.  According to the National Institutes of Health, there are nearly 7,000 rare diseases, affecting more than 25 million Americans.  Yet there are FDA-approved treatments for only as few as 200 of these diseases.  Many of them afflict the most vulnerable members of our population, including children.  And their effects can be profound.  

“For example, we will hear this morning from the parent of a brave young boy who is living with a rare disease called Epidermolysis Bullosa, or EB.  EB is a group of diseases characterized by blister formation after minor trauma to the skin.  Infection from torn or blistered skin is a constant concern.  Scarring can fuse the fingers and toes, causing deformities that severely limit function and mobility.   Some with this disease are limited to a diet of liquids or soft foods in order to avoid tearing or scarring in the mouth and esophagus.  This horrible condition affects all ethnic and racial groups.  Yet there is no effective treatment.  Parents’ sole recourse is to try to shield their children’s skin with gauze and ointments.

“I know that there are several young people in the audience who are living with this disease, and I want to thank you and your families for being here today and sharing your stories with us.

“In addition to those suffering from rare diseases in the United States, the World Health Organization estimates that, beyond our borders, over one billion people – a sixth of the world’s population -- suffer from one or more neglected tropical diseases.  These diseases are a group of parasitic and bacterial infections that ravage the poorest populations in the world, thriving in remote areas, poor urban regions and conflict zones.  They result in malnutrition, anemia, permanent disability (including blindness) and death.  And they disproportionately affect children.

“Beyond the tremendous suffering they cause, rare and neglected diseases share another troubling commonality:    They are rarely the focus of new treatments.  The statistics are staggering:  Of the 7,000 rare diseases in the United States, only three percent have FDA-approved treatments.  Of all the drugs approved by FDA since 1975, only one percent were developed to treat neglected tropical disease.  

“The conventional wisdom is that these diseases are ignored by drug and device companies because there are inadequate market incentives for engaging in the costly process of developing products for FDA approval.  Our discussion this morning will explore the accuracy of that belief, and what can be done to improve the current situation.  

“Congress has taken action over the years.  In 1983, Congress passed the Orphan Drug Act, which provides drug companies with a tax credit and extended period of market exclusivity for developing medicines to treat rare diseases.  

“In 2007, Congress added a tropical disease provision to the Federal Food, Drug, and Cosmetic Act that provides a drug sponsor with a ‘priority review’ voucher if the sponsor obtains approval of a drug that is intended to treat a tropical disease.  The vouchers may be transferred or sold, which is one way that a firm working on treatments for tropical diseases can raise capital for clinical trials.  

“Most recently, Congress directed FDA to convene a working group to recommend appropriate trial design and regulatory paradigms to optimize prevention and treatment of rare and tropical diseases.  FDA convened its working group in March of this year, and I look forward to its report to Congress, which is due in March 2011.

“I am also heartened that the Department of Health and Human Services is taking steps of its own to try to address this challenge.  The Centers for Disease Control and Prevention is working with the World Health Organization on combating certain neglected tropical diseases; they have identified what they call ‘targets of opportunity’ to help improve global health.  

“In addition, FDA recently created an office of rare diseases in its Center for Drugs to assist sponsors in navigating the agency’s clinical trial and approval requirements.

“All of these efforts are steps in the right direction.  They are thoughtful and well-intentioned.  But no one disagrees that we need more robust and effective approaches – and we need to achieve better, lasting, tangible results.  The status-quo is intolerable.  It consigns millions of people – so many of them children – to a cruel fate of suffering, debility and often early death.  We need to offer them hope – and effective treatments.

“Today we will hear from witnesses inside and outside the government who are confronting this quiet crisis on the front lines.  We will hear from two panels.  The first consists of witnesses from the Department of Health and Human Services.  The second will consist of our non-government witnesses.  Each has a different perspective to share, and I am grateful that they are all here to offer their insights and suggestions.  

“Also, I want to thank our committee’s former chair and now ranking member, Sen. Enzi, for his own very keen interest in this issue, and his help in making this bipartisan hearing possible.”