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The Time is Now – Insight from National Organization for Rare Disorders Rare Summit

The Time Is Now – Insight From National Organization For Rare Disorders Rare Summit
The Time Is Now – Insight From National Organization For Rare Disorders Rare Summit

The Time is Now!
Insight from the National Organization for Rare Disorders Rare Summit

As CureDuchenne’s advocacy leader, I was happy to attend NORD’s Rare Diseases & Orphan Products Breakthrough Summit on October 21 and 22 in Washington, DC. The conference was fast-paced, and I was able to attend many valuable sessions and meetings, particularly focusing on hearing directly from the FDA staff about their priorities, predictions, and how much value they place on learning from you – patients and caregivers – to inform their decision-making on drug development. The NORD Rare Summit has steadily grown over the years, hitting a record-breaking ~920 attendees this year – over 100 more than last year – spanning the entire rare disease community. “The Time is Now” was their theme, and I felt palpable excitement in the air around so much advancement, especially with gene therapies.

We at CureDuchenne are committed to serving as a conduit for our Duchenne community to those entities that play such an essential role in continuing progress toward treatments and even cures. In listening for things that would be of value to you, I was struck with a clear tone from several people representing the FDA, that their desire to hear families in impactful ways is a top priority. The meeting opened with a keynote from former FDA Commissioner, Scott Gottlieb, who said,

“Time makes a big difference in someone’s destiny.”

This hit home, thinking about the value of swiftness in drug development decision-making. And then after that, thinking about how to ensure access to the approved treatments – realizing once again that significant change is necessary for the system to work in today’s world, with today’s innovations, and today’s scientific and real-life opportunities.

Some clear take-aways from different sessions during the meeting were so oft-repeated that they bare repeating by sharing with you.

Scott Gottlieb told us that Medicare Part D “is no longer fit for purpose.” Many rare disease patients, even though they’re not over 65 years old, are eligible for Medicare because of disability eligibility. It’s a publicly funded insurance company. Part D is the section of Medicare that pays for drugs, like any insurance company’s pharmacy benefit. In fact, what Medicare pays to cover claims for those on orphan drugs exceeds costs for those over age 65 in the Medicare program. A few things need to happen so that Medicare will cover the costs of new treatments like gene therapy. Once the FDA approves it, the treatment has to be added to the drug/treatment list of what Medicare covers. Then Medicare determines how much they’ll pay for that treatment. When these two things happen, then there is “access” to that treatment for those covered by Medicare. Right now, Medicare recipients pay a percentage of drugs/treatments out of their own pocket, and that amount is not capped. Ways to add these new treatments and enable them to be affordable will need to be contemplated as more gene therapies are approved. This is particularly important because many times, other insurance companies follow what Medicare does. All of these changes will also need to be considered for the insurance plans within the Affordable Care Act. You can see how, if Medicare changes and ACA insurance plans change, then other employer-sponsored insurance plans will eventually follow suit. This is not a change that will happen easily or quickly, so it is important that we’re hearing these thoughts now.

Using natural history data to replace or reduce the need for people to be randomized into a placebo arm is another I heard frequently. Using natural history data, which is ideally a combination of many kinds of data and information reported from patients, clinicians, and other observers, can enable drug reviewers to see that treatment has made a definite impact or produced a particular outcome. The FDA is including natural history data in their new Rare Disease Cures Accelerator (RDCA) program. Theresa Mullin, Acting Director of Strategic Initiatives for the Center for Drug Evaluation and Research (CDER) of the FDA, said that regulators have vast knowledge gaps in the “characterization of rare diseases, patient perspectives, and clinical studies.” RDCA seeks to build efficiencies in rare disease drug development by finding things that are common among several rare diseases that can be measured. An excellent example of that might be the many types of muscular dystrophy – while there are unique things about each one, there are also things in common. If natural history data can show those similarities, then perhaps progress can be shared in certain circumstances. For example, if a therapy slows disease progression for Duchenne, might that therapy also work to slow progression for several other kinds of muscular dystrophy? If so, could the time it takes to approve the therapy for broader disease be shortened?

Another example might be this – If patients with several different rare diseases all share the common feeling of fatigue, then how can one solution for fatigue be more swiftly applied to others? How can natural history data from many rare diseases provide clues or answers or serve as the control arm to hasten drug development and make it so that fewer people are assigned to placebo arms in clinical trials? FDA is funding several projects to find these kinds of efficiencies across rare diseases.

fda leaders at nord rare summit

The FDA leaders from the Center for Drug Evaluation and Research (CDER) – Janet Woodcock, the Center of Biologics Evaluation and Research (CBER) – Peter Marks, and the Center for Devices and Radiological Health (CDRH) – Jeffrey Shuren were all together on a panel to answer questions about rare diseases.

We also heard from Ned Sharpless, the Acting Commissioner of the FDA, and Alex Azar, the Secretary of US Health and Human Services. Lots of leaders! They said the biggest issues they face are the number of rare diseases, the lack of understanding of the natural histories of all of those diseases, the small numbers of people who have each of the diseases and the fact that every person who has a disease experiences the disease slightly differently. There is so much innovation, and they want to move fast, but they must also make sure the therapies are effective and safe. Determining what risk level someone with a rare disease is willing to take is something they need to hear from patient communities, and they need to grapple with the fact that the risk tolerance is different for everyone. They each have specific goals for 2020 specific to rare diseases:

  • CDER will be rolling out a reorganization of its staff, moving towards a center of excellence for rare diseases, and making policies for “n of 1” individualized drug development programs.
  • CBER will be working on reviewing the 800 treatments that are on their docket (it’s generally anticipated that 20 gene therapies will be approved in 2020) so they’re staffing up, and working with the NIH to make sure people have access to approved gene therapies, thinking about centralized manufacturing of vectors to support production of those things needed to deliver gene therapies (this could also help reduce prices of gene therapies).
  • CDRH is creating “communities of practice” that will include patients to approve more diagnostic tests and solving common problems faster, and they’ll be working on approving the devices needed to deliver gene therapies.
  • FDA overall is focused on innovative study designs, continuing to speed processes to approval through designations (fast track, accelerated, breakthrough, and orphan drug), interconnected and modernized data (using data from EVERY patient, enabling big data to become useful data).
  • US Health and Human Services will protect Medicare and private insurance, protect pre-existing conditions coverage, and support state Medicaid programs as they begin to deal with covering high cost/high-value drugs and treatments for rare diseases.

The FDA spoke of many programs they have rolled out in recent years, encouraging patient communities to participate. Many of these programs were started as a result of the passage of the 21st Century Cures Act a few years ago. The FDA has hired Patient Affairs staff, a team to help the patient community engage with the FDA and to ensure the patients’ voices are heard. They want to learn directly from patients, hear about patients’ experiences living with a disease, and what endpoints in clinical trials make the most difference in their lives. Patients and caregivers can sign up to participate in Listening Sessions.

“Everyone (at the FDA) comes to work every day excited about helping patients. They’re not trying to get in the way of approving a product. And they know they need to operate fast so sometimes when they’re dealing with a single product appeal, it’s hindering them.”
– Peter Marks, On why patients should teach FDA about a disease, not seek meetings to advocate for a particular product or treatment.

CureDuchenne would love to hear what you think the FDA should know! We have many opportunities to talk with the FDA, and our top priority is to share what you think and feel. If you are interested in sharing your insights (as a caregiver or a patient) with the FDA, let us know what comes to mind for you when you consider the following questions the FDA leader panel suggested. You can contact us at info@cureduchenne.org to email us your thoughts, send us a video, or arrange a time to talk.

  • What do you want the FDA to know or to learn?
  • What are your experiences living with a disease as a patient? As a caregiver?
  • What symptoms matter most to you?
  • How do you believe your disease should be studied?
  • What do you want to be able to do in your life that you cannot do because of the disease?
  • What is hard for you when you participate in a clinical trial? What is impossible?
  • What would make you feel better, not your physician?
  • What do you most want to be believed about the disease?

The time is now….I think that’s right!

Related Webinars

Duchenne Clinical Trials & Drug Development Webinar
Watch CureDuchenne’s webinar from September 11, 2019, in which Peter Marks, MD, PhD., Director, CBER, FDA, presents in Module 1 on Drug Development: From Discovery to Approval.

The FDA’s Role in Gene Therapy, Wednesday, October 30, 2019, 2:00-3:00 p.m. EDT
Watch the webinar from NORD in collaboration with the American Society for Gene and Cell Therapy by clicking the above link. The webinar discussed regulatory pathways for gene therapies, how gene therapies are deemed safe, specific indications for gene therapies and more. It is one of a 5-part series of webinars about gene therapies:

  • Gene Therapy: Yesterday, Today and Tomorrow – Watch the archived video.
  • The Science Behind Gene Therapy – Watch the archived video.
  • Understanding the Gene Therapy Process and Aftercare – Wednesday, November 20, 2019
  • Life After Gene Therapy – Wednesday, December 18, 2019