RareVoice Awards Gala Honors Rare Disease Advocates and Congressional Leaders

More than 300 patient advocates and industry leaders as well as staff from Capitol Hill and federal agencies joined us last week for the fourth annual RareVoice Awards Gala at Arena Stage in Washington, DC.

Dr. Steve Groft received a Lifetime Achievement award for his dedication to stimulating research and advancing development of therapies during his tenure at the Food and Drug Administration (FDA) and National Institutes of Health (NIH), where he served as Director of the Office of Rare Disease Research from 1993 until his retirement in 2014.

The judges had difficulty selecting the winners among the passionate patient advocates making a difference in states across the country and on Capitol Hill.  Patricia Weltin, President and Founder of the Rare Disease United Foundation, received an Abbey for patient advocacy at the state level. Lisa and Max Schill with RASopathies Network received an Abbey for patient advocacy at the federal level for their efforts in support of the 21st Century Cures Act.  Ronald Bartek, President and Founder of the Friedreich’s Ataxia Research Alliance, received a Lifetime Achievement Award for his tireless advocacy before Congress as well as the FDA and Social Security Administration.

The Chairman and members of the House Energy and Commerce Committee were recognized for their leadership on the 21st Century Cures Act which has several provisions critical to the rare disease community, including incentives to spur development of new therapies. Representative Fred Upton (R-MI) received a Lifetime Achievement Award. Representative Gus Bilirakis (R-FL), G.K. Butterfield (D-NC) and Diana DeGette (D-CO) were honored with Congressional Leadership Awards. Saul Hernandez, Deputy Chief of Staff and Legislative Director for Representative G.K. Butterfield, and Clay Alspach, Chief Health Counsel of the Energy and Commerce Committee, received Abbeys for their work on behalf of the rare disease community.

Dr. Kakkis, President and Founder of the EveryLife Foundation for Rare Diseases, ended the awards ceremony with a call to action, urging everyone in attendance to contact their Senators to ask that the many provisions of the 21st Century Cures Act supported by the rare disease community be included in Innovation for Healthier Americans, the Senate companion bill.

Photos of the awards ceremony and reception will be posted on the Rare Disease Legislative Advocates Facebook page and the RareVoice Awards website, so be sure to visit both.

Thank you to Shire, the Presidential Sponsor, and other sponsors including AbbVie, Alexion, Amgen, Amicus, Genzyme, Novartis, PhRMA, Raptor, and Vertex. Proceeds from the Gala fund Rare Disease Week on Capitol Hill, to be held February 29 through March 3 next year.

Rare Disease Week: Progress, But Still Very Few Treatments by Advocate Steve Smith

click here to read Steve Smith’s article at Pharmexec.com 

Rare Disease Patient Advocates have gained strength on Capitol Hill since I first became a patient advocate 25 years ago. That was when my son was diagnosed with a rare disease at age three.

Now, we have “Rare Disease Week” when advocates come by the hundreds to speak to legislators confident that they represent 30 million Americans and 350 million people worldwide. They no longer need to explain themselves starting from scratch.  Legislators are familiar with their cause and know advocates play a vital role in drug development. They know that advocates understand how public policy influences the development of new treatments.

For this year’s Rare Disease Week, which took place last month, patient advocates studied the new 21st Century Cures draft legislation and then asked legislators to support it. Read more

“What Advocates Said to Congress During Rare Disease Week on the Hill” – From Rare Disease Advocate, Steve Smith

by Steve Smith

See the full blog post here

Rare Disease Week on Capitol Hill, February 23-27, 2015

Several hundred new rare disease treatments could be approved in just a few years; previously, that has taken decades.

Elevator Pitch from Rare Disease Advocates to Capitol Hill

Helpful Legislation Proposed in 21st Century Cures Draft

In late January, the U.S. House of Representatives Energy and Commerce Committee issued its draft discussion document. The line items are proposed to become laws that could transform drug research, development, and delivery. Advocates studied this legislation and then went to Capitol Hill last week and met with legislators.

Put Patients at the Center of Drug Development

Proposed changes to the clinical trials process are numerous. The leading theme is “Put Patients at the Center of Drug Development.” This would be formalized in a number of ways outlined in the draft.

Increase Treatments for Rare and Complex Diseases

The draft defines a path to greatly increase the number of approved new treatments for rare and non-rare complex diseases. This concept is embraced on both sides of the aisle now that stakeholders have become aware of the facts: rare diseases affect 30M Americans and 350 people worldwide. 50% of those people are children and it is estimated that 1/3 will not live past the age of 5. For the 7000 classified rare diseases, there are fewer than 500 treatments approved by the FDA: very few of these are cures. This is in spite of spending something like $30B annually in the U.S. on rare disease research.

Complex diseases that are not rare share common cause with rare diseases. Congress has recognized that the impact on our society from incurable ALS, Alzheimer’s, Parkinson’s, and other unmet medical needs is too great to let stand.

Drug development for complex disorders, rare or not, is expensive, financially risky, and treatments elusive. There are easier ways to make a living and drug companies know this. To survive, they often shelve complex, but promising, research in favor of projects more likely to be approved. It is said that pharmaceutical companies have “Zombie Closets” full of projects that are just lying there, full of potential, with some research already done.

Incentives for Pharmaceutical Companies Rather than Public Funding

The draft has two proposed laws that would provide incentive to develop drugs for rare and complex diseases: The Open Act (HR971), and The Dormant Therapies Act (S.3004).

Both proposals have bi-partisan support and do not require money from the government.

The incentive would be extension of the patent for a drug. Generally, drug companies are in favor of such incentives. So are patient advocates because of the increase in approved treatments this could bring. It is recognized, after more than a decade of government budget cuts for the NIH and FDA, plus sequestration and partisan debates that killed government funding initiatives, that private sector funding is more likely to pass through the legislative process.

The Open Act HR971, sponsored by Congressman Gus Bilirakus, (R-FL), G.K. Butterfield (D-North Carolina), and Michael Thomas McCaul (R-TX), would incent pharmaceutical companies to “repurpose” drugs already approved for common diseases, via new clinical trials, to create a new treatment for a rare disease. Such trials would be less expensive and faster because preliminary steps have been done. This is based on a law that already passed, and is working, called Best Pharmaceuticals for Children Act. Supporters estimate that several hundred new rare disease treatments could be approved in just a few years; previously, that has taken decades. (Since the Orphan Drug Act was passed in 1983, roughly 500 treatments have been approved by the FDA for rare diseases.)

The Dormant Therapies Act, sponsored by Senator Orrin Hatch (R-Utah) and Senator Michael Bennet (D-Colorado), is based on a proposal by Congressman Leonard Lance (R-NJ), and supported so far by 48 Republicans and 47 Democrats as of early this year. It would incent pharmaceutical companies to reawaken research on drug candidates that have previously been shelved for business reasons.

Debate is expected. Differences exist in whether the private sector should be incented in this way and how much. Patients impacted by progressive, serious, and life- threatening disorders hope for progress.

Data Collection, Management, and Use

The promise of such acts is very much based on available data that was well collected, managed, and can be mined to reduce the cost and time of subsequent clinical trials. Modern systems and practices are the way this will be done. The new draft legislation also has a number of line items to free technology developers from constraints and encourage better data collection, management, and re-use.

*Guest blogger Steve Smith is Senior Director of Patient Value at Medidata. You can reach Steve by email.

Advocates are Campaigning, Representatives and The FDA are Taking Note

The following is a blog post from Jill Wood, parent advocate and founder of Jonah’s Just Begun Foundation to Cure Sanfilippo Inc:

Look at what we started. I have to hand it to our friends at the EveryLife foundation and their work with their program the Rare Disease Legislative Advocates.

Last February, Jonny Lee Miller and I joined a panel of esteemed stake holders in the rare disease community. They spoke to a packed room of legislators, their staff members and patient advocates about the importance of supporting legislation that would help spur the development of treatments for rare diseases.  To view the footage from the event please click HERE.

Our voices did not go unheard. Representatives Fred Upton (R-MI) and Rep. Diana DeGette (D-CO), committee members of the House and Commerce Committee followed up with a new campaign “Path to 21st Century Cures” this initiative is taking steps to determine what it will take to ensure we are taking full advantage of the advances this country has made in science and technology and use these resources to keep America as the innovation capital of the world. Watch the video HERE.

Secondly The Energy & Commerce Committee has released a patient-focused white paper as part of their 21st Century Cures Initiative. The Committee is looking for feedback to their white paper, comments are due by June 13th, this is our chance to give our two cents. 1.usa.gov/ 1gbl4Pf

There are several questions in the white paper that really hit home and I want to scream the answers at the top of my lungs. For instance: What is the role of government in your work, including any barriers to achieving your goals and advancing breakthroughs? In a word funding! I want so desperately for someone to care about my answer and to do something about it.

Last week my CSO, Sean Ekins and I had a good conversation with John McKew of the NIH, Dr. McKew is the Acting Director of the Division of Pre-Clinical Innovation. There are two new programs under NIH/NCATS that could be good possibilities for additional help for us. TRND and BrIDGS, despite the fact that these grant/partnerships are highly competitive. About 80 applications are submitted a year and on 3–4 are chosen. Sean and I felt optimistic.

Sean and I are searching and searching for ways that we can move our science forward. I can only host so many fundraisers. Another avenue that we pursued as an option to win federal grants was by creating our own virtual biotech, Phoenix Nest. With having my own biotech I can apply for SBBIR/STTR grants, these grants are awarded to small startup biotech’s, with the idea of boosting the economy and keeping US science competitive. Last winter Phoenix Nest submitted a proposal with Dr. Dickson, in April we got our score back it was extremely high, but still no promise of winning the grant, in May our comments came back, they could not have been better, still no promise of winning the grant. At the end of May the NIH reviewers went over the top submissions…. Still no word, except that they asked us to send in all the background information about PN and asked a few additional questions. Fingers crossed, we should know any day now, I have to say I think I’ll be crushed if we don’t win.

My point… look at what it is that I- a parent has had to do to help ensure that a treatment is created for Sanfilippo. So when the government asks me how they can help? I want to scream at the top of my lungs, just give me some funding and I’ll take care of the rest. I’ll help build our economy and give the US an edge on novel science.

Last year the RDLA’s big initiative was to have language added to PDUFA (Prescription Drug User Fee Act) that would expedite clinical trials for rare and especially ultra-rare diseases. Our language was supported and written into law by President Obama, a huge win for our community. Of course that was not the only ASK that the rare disease community wanted included. FYI the whole package that was included under PDUFA was termed FDASIA. Check out their website for the run down , click HERE.

A few weeks ago the FDA gave me a call and asked that I come be part of a requirement of FDASIA. Here is the program.

FDA works to ensure that interested parties have a variety of opportunities to provide input to FDA decision-making, and stakeholder engagement is an agency priority. FDASIA recognized the value of patient input to the entire drug development enterprise, including FDA review and decision-making. FDASIA-related stakeholder engagement efforts include:

  • FDA initiated a five-year Patient Focused Drug Development program to learn from patients about the impact of their disease on their daily lives. FDA plans to hold at least 20 public meetings over the next 5 years, each focused on a different disease area, and we expect that these gatherings will be attended not only by our staff and patient representatives, but also potential sponsors of new drug development.
  • FDA, in collaboration with Office of the National Coordinator for Heath IT (ONC) and the Federal Communications Commission (FCC), has set up a public-private working group under ONC’s Health IT committee to gather input from a variety of stakeholders and experts to inform FDA on an appropriate, risk-based regulatory framework pertaining to health information technology, and has already held numerous, productive meetings on this topic. Information on this working group, including a link to a schedule of these meetings, is available on FDA’s “Health IT Regulatory Framework” website. FDA intends to use the input from this working group in its development of the Health IT Report.At first I was very skeptical of these meetings. I wondered if the FDA was just trying to pacify us and nothing would really come of it. There are 20 meetings planned over the next five years, each meeting addressing a different disease. The meeting that most closely relates to Sanfilippo is “Neurological manifestations of inborn errors of Metabolism” The meeting is this coming Tuesday, June 10th. Fitting that it be on my Birthday, the day I was born as a carrier of a mutation that would cause an inborn error of metabolism in Jonah. Word to the wise, child bearers get your humane genome sequenced and avoid this hell altogether.

The goal of the meeting is to hear patient perspectives on the impact of neurologicmanifestations of inborn errors of metabolism on daily life as well as patient views on treatment approaches for neurologic manifestations of inborn errors of metabolism.I really have no desire to sit down and give my sob story on what it’s like living day to day with my son’s neurological disease to the FDA. I’m actually a bit appalled… don’t they know what it’s like already? Isn’t it part of their job description, to know? My comments will be focused on the latter.. views on treatment approaches for neurologic manifestations of inborn errors of metabolism.

I warn you FDA this meeting better not be a waste of my time! I have a MOUNTAIN of work I can be doing at home, to help fund and drive research. But at the very               least, I know I’ll make some new contacts and NORD paid for all my travel expenses.  Plus Nancy Burke is coming with me and we could use some girl time out on the town.

Rare is not a Dirty Word – Rob Whan, Childhood Cancer Advocate

The following is a blog post from Rob Whan, Childhood Cancer Advocate:

“This was my second consecutive year at the Rare Disease Legislative Advocacy Days and the experience did not disappoint me. RDLA has the same challenges with rare populations as we do with childhood cancer, some of them being FDA reform, low or nonexistent funding and lack of drug development. The atmosphere at RDLA is very comfortable for the childhood cancer advocate. We are welcome  as part of the team and it seems that they recognize that our challenges are much in line with theirs.

Read more

SCAD Alliance at Rare Disease week 2014

“As anticipated, Rare Disease Day 2014 events did not disappoint. We are taking the information we gained and are busy reaching out to new contacts to advance the mission of SCAD Alliance.” – SCAD Alliance

Read more about SCAD Alliance at Rare Disease Week in Washington D.C. 2014

From FDA Matters: Orphan Drugs at 30: Will Success Become Too Expensive?

The Orphan Drug Act (ODA) turned 30 this month, demonstrating that good laws really can have an enduring impact.  Amidst the celebrations, a reporter asked me a provocative question: can we afford more orphan drugs costing hundreds of thousands of dollars per year? FDA Matters answered “yes.”

FDA…20 Diseases Being Chosen for PDUFA-V Meetings

by Dean Suhr, Parent Advocate, President MLD Foundation

Last Thursday, October 25th, I attended the FDA’s Patient-Focused Drug Development public meeting in Washington, DC. This meeting was required by the recently passed FDASIA/PDUFA-V legislation (see Abbreviation Decoder at end of post) and requires the FDA to hold 20 disease-specific meetings over the next 5 years to discuss topics such as:

“the impact of the disease on patients, the spectrum of severity for those who have the disease, the measures of benefit that matter most to patients, and the adequacy of the existing treatment options for patients.”

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My Experience on Capitol Hill: Rare Disease Lobby Day

By Laura Welch

 I am a 33-year-old mother of a 2-year-old boy and wife to a wonderful US Soldier.  In July 2011 we moved from Seattle to DC. Hello sunshine!

On August 18, 2011,  I was diagnosed with Epitheliod Sarcoma (ES), a rare and aggressive form of cancer.  I did what anyone in this day and age would do; I consulted the bible that is Google!  The prognosis was bleak, to put it mildly. However, I am of the mindset that if this disease is so rare that it has little data available, I will make my own data and try not to dwell on the figures in front of me.

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Rare disease spurs Utah County woman to be Democratic activist

Politics » Utahn Jamie Hartley says nobody was more surprised than she that her politics leaned left.
by: By Matt Canham| The Salt Lake Tribune

Washington • Of all the Utahns elected as delegates to the Democratic National Convention, Jamie Hartley is the outlier. She isn’t a party insider or union leader, a politician or a campaign strategist.

Hartley has no real political experience at all.

But as a Utah County resident struggling with a painful genetic disorder she’s very familiar with the nation’s medical system, and that’s something she wants to bring to the big political gathering in Charlotte, N.C.

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