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Event Title
Remarks by Dr. Hahn to the Public Meeting on Rare Diseases
February 24, 2020

Speech by
Stephen M. Hahn, M.D.
Commissioner of Food and Drugs - Food and Drug Administration ( December 2019 - January 2021 )

(Remarks as prepared for delivery)

Thank you all for joining us for today’s discussion on rare diseases, to coincide with the recognition of Rare Disease Day. 

It’s terrific to see such a broad group of stakeholders, including drug and product developers, clinicians and researchers, representatives of industry and health care organizations, and, most importantly, patients and their families. We appreciate the participation of so many rare disease stakeholders both on the web and in person today.

Together … by engaging in conversations like the one we’re having today, by sharing information, and by listening to and learning from each other  … we can more effectively collaborate in support of our shared goal -- the development of new and better treatments for rare diseases.

I’ve spent a good portion of my career researching and treating cancer, the challenge of rare diseases is something that has been central to my work and of great personal meaning to me.

That’s in part because so many cancers, including almost all pediatric cancers, are themselves rare diseases. 

This has also given me the opportunity to witness and, in some cases, be part of some of the extraordinary developments of products to treat these diseases. 

But just as important is the impact that work with patients with rare diseases has had in helping to formulate and reinforce my core principles and values about medicine and medical research – promoting innovation, empowering patients, and creating and applying new methods of generating, collecting, and applying data – that will shape our work in the coming year.

The Importance of Innovation

Consider the importance of encouraging scientific and medical innovation to support the development of new treatments. 

A look at the impressive advances that are occurring in the rare disease space makes clear the importance of innovation.

Since passage of the Orphan Drug Act in 1983, the FDA has approved more than 800 drugs and biologics for rare disease indications. Last year alone, the agency approved 22 novel drugs and biologics with orphan drug designation.

To break this down further, in our Center for Drug Evaluation and Research (CDER), 21 of the 48 novel drug approvals last year, or 44%, were orphan products. In the Center for Biologics Evaluation and Research (CBER), 20 percent (1 of the 5 novel biologic approvals) were orphan products.

And these included approvals for a variety of unmet rare disease needs. For instance, we approved:

  •  the first triple combination therapy to treat patients with cystic fibrosis  who have the most common form of the CF gene mutation, a new drug to increase pain-free light exposure in patients with phototoxic reactions (sensitivity to sunlight) due to erythropoietic protoporphyria;
  •  the first treatment for neuromyelitis optica spectrum disorder;
  • a new treatment for tenosynovial giant cell tumor;
  • and a gene therapy to treat pediatric patients younger than two years of age with spinal muscular atrophy.

Last year we approved drugs for a total of 76 rare disease indications. For many of these drugs, an existing label was expanded for new uses to treat patients with rare diseases, which, as you know, can be extremely important to patients living with rare diseases.

We’ve also seen progress in the development of medical devices for rare diseases. Since 1990, the FDA has approved 77 medical devices for orphan indications under the Humanitarian Device Exemption program, including three last year.

What do these impressive numbers really mean? That we are living in a time of unsurpassed scientific and technological progress that is generating both unprecedented interest in the development of rare disease treatments and significant progress in that effort. 

This isn’t just wishful thinking.  Rare disease therapies are being developed at a faster pace than ever before.  And that’s in part because more researchers and developers are investing in development in this area.

It also underscores that we still have much work to do and we cannot step back in these efforts.

Between 2012 to 2016, the number of orphan drug designation requests has grown steadily … more than 500 each year.  Last year, the Office of Orphan Products Development received 533 new requests for designation, a 5% increase from 2018.

At the FDA we’re working hard to support this innovation and speed the development and regulatory process. We also welcome your input into how we can support additional innovation.

The Agency has already done a great deal to lower regulatory burdens for innovators, to increase competition and choice for consumers, and ensure that we provide the necessary support and information about our regulatory requirements to developers. I understand some of today’s sessions have addresses some of these issues. 

This meeting is one example of the Agency’s commitment to working and communicating with rare disease stakeholders so that we can ensure our regulatory framework considers stakeholder input. 

In addition to stakeholder input, in order to optimally support rare disease innovation, we need a modern infrastructure.

For example, our Orphan Drug Technology effort, which builds on our Orphan Modernization Program is helping to streamline the orphan drug designation request process.

We need to continue along this path.  It’s also important to emphasize that, as eager as we are to support the speedy approval of new products, we will continue to ensure it is based on the integrity of the data and the process itself.

Our support for innovation and the development of newer, more effective products will always be done while maintaining FDA’s gold standard for safety and effectiveness.  This equilibrium is particularly important to maintain in the world of rare diseases.

The Essential Role of Patients

Another of my priorities with particular relevance to rare diseases is the belief in the importance of empowering patients and enhancing the role they play in finding treatments and cures. 

To effectively support the development of treatments and to inform our understanding of any given rare disease, patients should be involved in the process.

The more we can know and understand what matters most to patients who live with these diseases, the closer we are to developing effective treatments.

The FDA increasingly has incorporated a patient-focused approach in its work, adding a number of effective ways to include the patient’s voice in evaluating and developing treatments for disease, such as the Patient-Focused Drug Development initiative, our Rare Disease Patient Listening Sessions, and through public meetings like this one.

These and other vehicles allow us to engage with, and hear directly from patients, caregivers, and advocates who have rare disease experience, to find commonalities that patients with different types of rare diseases have, and to better inform medical product development and our regulatory decision making. 

The Power of Data

One particular benefit that can come from the involvement of patients concerns an extraordinarily powerful (and in many ways still untapped) resource for finding answers – rigorous data.

Ensuring the availability and high quality of data allows us to maximize the extraordinary potential of science, better support the development of new medical treatments and cures, and increase the knowledge patients and consumers have to make informed decisions about FDA regulated products.

We must, for example, make more effective use and integration of patient-level data such as electronic health records, clinical trials, medical studies, and patient registries.  And we also must better integrate these data in ways that can be used for regulatory decision-making.

As you know, we increasingly understand that each disease is unique – with its own causes, epidemiologies, treatments, and cures.

Having more relevant and patient specific data can support the selection of the most valid clinical outcomes and help us better pinpoint treatments that work.

So we will continue to do everything we can to attain more and better data for the work we’re doing, to be more proactive in gathering this data, and to be more creative and thorough in our analysis of it.

Our decisions will be based in science. But that also means that these decisions are reviewed as we get more data.  That’s an example of how we are a learning organization, continually updating our work based on the information we gather and receive.

I began my remarks this afternoon by noting the extraordinary advances in research in this area thanks to scientific innovation. Consequently, it is indeed an exciting time for rare disease product development. 

But we also must keep in mind that we still have a great distance to go to address the needs of so many patients who live each day with one of the 7,000 rare diseases.  The vast majority of rare diseases do not yet have an approved treatment.

And the challenges we face – scientific, economic, and medical are enormous. 

Some of this relates to the essence of rare diseases – the small size of the populations, which can pose a challenge for clinical trials, product development, and research.   This is the tragic irony, because, as you’ve heard time and again, the underlying challenge of rare diseases is that while they are rare individually, collectively they are not.

Our priority at the FDA is to help find and support the development of new treatments and cures for rare diseases – and to do everything we can to support public health in this area – through approvals, new and creative trials, and funding of new research programs, and in other ways. 

And most importantly, we look forward to listening to, and working with, all of you who are here today to support rare disease product development.  Together, we can and will find answer and overcome these challenges.

Thank you.

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