7,000-plus rare diseases – 1 in 20 individuals worldwide

March 8, 2017 (Windy Hill Beach, South Carolina) — Senators Orrin Hatch (R-UT) and Amy Klobuchar (D-MN) yesterday engaged in a colloquy on the Senate floor to commemorate Rare Disease Day by discussing issues facing patients and the families of those who have been diagnosed with these types of conditions:

Mr. HATCH. … as cochairs of the Rare Disease Caucus, Senator Klobuchar and I have worked hard to bring more hope to patients and their families who are coping with rare diseases on a daily basis.

Today 1 in 20 individuals worldwide is living with one or more of the more than 7,000 rare diseases, 95 percent of which do not have an effective treatment. While the incentives provided by the Orphan Drug Act, first championed by me in 1983, has led to the approval of nearly 600 orphan drugs, much more needs to be done.

Many patients living with rare diseases rely on the FDA to evaluate and approve treatment options for their conditions. That is why it is so important for the FDA to use its authority to accelerate the evaluation and approval of drugs for treating rare diseases and for Congress to ensure that proper incentives exist for research to discover and make affordable treatments and cures available for this community.

To address this issue, Congress passed the FDA Safety and Innovation Act of 2012, which refined and strengthened the tools available to FDA to accelerate the evaluation and approval of new drugs targeting unmet medical needs for rare conditions. I have been paying close attention to how this new authority translates into advances for patients suffering from conditions such as Duchenne muscular dystrophy, atypical hemolytic uremic syndrome, Bertrand-N-glycanase deficiency, and other rare diseases.

In light of these changes over the past few years, I ask my friend from Minnesota whether the current approval process is achieving its goals of safety and efficacy without hampering the development of new therapies.

Ms. KLOBUCHAR. I thank Senator Hatch for beginning this colloquy. I am so proud to be a cochair of the Rare Disease Caucus with him, and I share my colleague’s concerns. I think there must be improvements that are made. I continue to be inspired by the families across my State, your State, and our country who work so hard to make it easier for kids to have access to drugs to treat their illnesses. Unfortunately, we haven’t yet achieved all we can do for these families, and I have heard time and again about the emotional roller coaster that many of them have experienced when they interact with the Federal Government on new approaches for these rare disease conditions. Too often they are unaware when drugs are under review or confused about why experts or patients are not even consulted. The individuals suffering from these conditions and their families need greater clarity about the process for evaluating and approving these drugs, and they ought to be included and informed every step of the way.

It is critical that treatments that do exist for those with rare conditions be accessible and affordable. We must continue to protect the individuals from discrimination in insurance coverage and work to bring down costs. We have to ensure that incentives designed to spur the development and accessibility of treatments that the rare disease community desperately needs are not abused.

I ask Senator Hatch, as one with longstanding leadership on the bill that you passed that has helped so many people and saved lives, how can we focus on sharing this message with our colleagues and our constituents?

Mr. HATCH. I appreciate that question.

We must continue to urge the FDA to fully implement its relatively new authority. Every one of us in this body represents constituents who are battling rare diseases, and I urge the FDA to consider this flexibility as applied in reviewing all candidates’ therapies.

I will continue to work closely with my Senate colleagues to ensure that the FDA uses the tools, authorities, and resources required to provide patients and physicians with new treatment options. I have also contacted the FDA frequently during the past year to encourage the agency to listen to the voices of patients during the agency’s evaluation process.

When the Senate considers the nominee for FDA Commissioner, I will continue to stress the importance of incorporating a balanced and flexible approach when weighing risks, benefits, and outcomes, especially when dealing with small patient populations with such rapidly progressing prognoses.

Patients with limited or no treatment options are depending on FDA to utilize the flexibility outlined in FDASIA. This law, which provides full and fair review of new drug therapies in a timely manner, gives hope to patients suffering from life threatening diseases and, of course, their families as well.

I ask Senator Klobuchar, how can we move forward into the next user fee agreement?

Ms. KLOBUCHAR. Well, that is going to be very important and really an opportunity to make sure that this works for patients with rare diseases and their families. We know that affordability and accessibility remain paramount. We should also think about the burden that these conditions play and the critical role of the voice of the patient.

As you stated, Senator Hatch, more than 7,000 rare diseases exist, and the vast majority have no treatment. This is an extraordinary burden borne every day by Americans in every single State across the country. As we seek to continue making progress, including monitoring implementation of the advances in the bipartisan 21st Century Cures Act, we must ensure that rare disease treatments receive sufficient attention.

We also must encourage Federal agencies to better incorporate the patient’s voice in their decisionmaking process. As I mentioned earlier, all too often as we rightly focus on evidence-based medicine, we can lose sight of the human experience of these and different therapies. What may seem simple in a lab may be overwhelming or difficult when applied to patients in real life situations–all the more so when children are involved. The FDA and all agencies should ensure that they have appropriate processes to seek and incorporate this vital input. The user fee agreement will be an opportunity for us to make this case.

I would like to thank Senator Hatch again for his time to discuss these issues that are very important to both of us. We look forward to engaging with our colleagues on these issues as we move forward to the implementation of the Cures Act, as well as the work on the Orphan Drugs Act, and as well as the user fee agreement.

Mr. HATCH. I thank my dear friend, the senior Senator from Minnesota, for her time with me today. It is very meaningful to me and, I think, to everybody who is concerned about this rare disease situation in our country.

This is just the start of our conversation for this Congress. There is so much left for us to do, and I am certain we will succeed as long as we stay together and work in a bipartisan way. So I thank my dear colleague for her words and support and the good leadership she provides in the Senate.

Source: Sen. Orrin Hatch (R-UT) and Sen. Amy Klobuchar (D-MN), “… Commemorating Rare Disease Day”, Congressional Record, March 7, 2017, pp. S1616-7

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