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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. 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.

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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. 


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