Please respond TODAY to the RDLA’s Call To Action by contacting Senators Harkin D-IA) and Enzi (R-WY) asking them to add back in the language from HR 4132, the FAST Act.  We will re-post the RDLA’s Action Call if you wish to learn more about the details.

CALL TO ACTION – TODAY!

Rare Disease Language included in House draft PDUFA Bill

RARE Project would like you to consider taking action in support of the new language (FAST Act) related to the Prescription Drug User Fee Act (PDUFA) in the following ways;   The more support there is for the FAST Act, the better positioned the rare community will be, supporting the inclusion of rare disease language in PDUFA:

1)      Please add your organization’s name to the FAST support sign-on letter  (attached) by emailing Emily Roberts at BIO at eroberts@bio.org by Wednesday March 21^st

2)      Click here to email your Member of Congress and ask him/her to become a Co-Sponsor of FAST

The community would not have reached this huge milestone without the support and hard work of the many rare disease disease stakeholders that were involved in and supportive of this bill.  The more than 140 patient organizations and the 2700 advocates who took action to support ULTRA are the real champions of this achievement.

RARE Project’s strategic partner ‘The EveryLife Foundation’ believes the above language will empower the FDA to consider achievable scientific evidence to qualify a surrogate endpoint for use in a clinical trial, giving very rare diseases that have never been treated before an opportunity to use the Accelerated Approval process.  Most importantly, the inclusion of the language is a message from Congress to the FDA, that they should allow rare diseases as well as other life-threatening diseases access to the Accelerated Approval pathway.  Additionally, the guidance that the FDA is required to publish within one year of passing PDUFA will lay out a predictable and achievable regulatory process that will encourage investors and industry to fund the development of treatments very rare diseases.

More Information:

Inside Health Policy – Draft Energy & Commerce Bill Reveals FDA Reform Priorities For User Fee Package

Emil’s Blog – Guest blogger Julia Jenkins explains how ULTRA became FAST and what happens next

A Guest Blog by Julia Jenkins:

  Director of Government Relations, EveryLife Foundation

The Grassroots Movement Behind ULTRA-FAST &

How you can join the Movement!

Last fall, a parent advocate met Representative Stearns (R-FL) at a political fundraiser in Florida.  The parent shared his personal story that compelled Representatives Stearns into action.  Working with Stearns’ office, we drafted a small but practical piece of legislative language that fixed the “catch-22” of the current regulatory pathway that was preventing rare diseases access to the accelerated approval process.  To ensure the bill would pass, our goal was to activate the grassroots community to get enough support from Congress that the language would be included into Prescription Drug User Fee Act reauthorization (PDUFA).

Representative Stearns was joined by Representative Towns (D-NY) to introduce bipartisan legislation HR 3737, the Unlocking Lifesaving Treatments for Rare disease Act (ULTRA).  A team of parent advocates assembled and worked to secure more than 140 patient organizations to sign on to support ULTRA and encouraged more than 2700 advocates to write their Members of Congress asking them to support ULTRA.

We had a huge break when BIO negotiated a deal with PhRMA and the FDA on broader Accelerated Approval reform language that incorporated some of the goals of ULTRA.  The language was included in Senator Hagan’s (D-NC) TREAT Act – S. 2113, the Transforming the Regulatory Environment to Accelerate Access to Treatments.  Over the next few weeks, we worked with Representative Stearns and Towns on language for a new bill that would incorporate both TREAT’s Accelerated Approval language and the language in ULTRA (that directed the FDA to use other scientific data to qualify a surrogate endpoint for use in a clinical trial when the required historical clinical information on the surrogate does not exist or could never practically be obtained).

The result was H.R. 4132, the Faster Access to Specialized Treatments (FAST) Act which was introduced last week just in time to have it incorporated into the house version of PDUFA that was released on Monday.  One cannot avoid the pun that everything came together in the end – ULTRA FAST.  Today we are encouraged that we are joined by both BIO and NORD in advocating for support of FAST and that our few paragraphs that fixed the catch 22 for very rare diseases was included into the draft PDUFA language.

We could not have achieved this goal without the incredible leadership of Representatives Stearns and Towns and their staff. However, our success was due to the hard work of the grassroots rare disease community and individual parent advocates.   Together we were able to:

*Send more than 2700 emails to Congress asking them to support ULTRA
*Bring 70 patient advocates to Washington DC for a Lobby Day to support UTLRA
*Have an additional 200 advocates participate in the Lobby Day from their home by making phone calls to Congress
*Place ads in Capitol Hill trade publications (in print and online) showing the rare disease organizations’ support for ULTRA

Most importantly, having the support of the grassroots community encouraged all the stakeholders to work together to ensure the needs of rare disease patients were incorporated into the broader goals of improving the FDA’s Accelerated Approval pathway.

We could not have been so successful if it were not for the work of BIO, PhRMA and NORD for advocating for the needs of rare disease patients as well as the nearly 3000 advocates who took action to support improving the accelerated approval process for rare diseases.  There are a few key advocates who deserve a very special thanks for going above and beyond, taking time off work, donating money, food, and spending every other spare moment they had on Facebook, emailing, and calling to build a grassroots movement.  There are also a few organizations that deserve mention for not only supporting our efforts but making them their top priority.  Thank you to Roy Zeighami, Jill Woods, Tracy VanHoutan and Patricia Beggiato, the National MPS Society, Sarcoma Foundation of America, and the RARE Project.

That’s all the time we have for congratulations and ‘thank you’s; we must get back to work.  First we must ensure that identical Accelerated Approval language is introduced in the Senate’s version of PDUFA (currently, the Senate’s TREAT Act is missing the considerations in the guidance language that specifically says: “to incorporate novel approaches to the review of surrogate endpoints based on pathophysiologic and pharmacologic evidence in such guidance, especially in instances where the low prevalence of a disease renders the existence or collection of other types of data unlikely or impractical.”)

If identical Accelerated Approval language is not in both the House & the Senate bills then we are subject to Conference Committee where our language will be negotiated by Congressional staff, and really anything could happen.  We also need to ensure that no meaningful changes are made during Mark Up of the two bills when they are in the House’s Energy & Commerce Committee & the Senate’s HELP Committee.  That is why your advocacy efforts to support the FAST Act are so essential.  We must act today, but also as a community, we need to be ready and able to respond within hours’ notice to contact Congress if our rare disease language comes across any additional obstacles.

If you’ve made it this far into the story, I’m going to ask you again to take action:

1)      Please add your organization’s name to the FAST support sign-on letter by emailing Emily Roberts at BIO at eroberts@bio.org by Wednesday March 21^st

2)      Click here to email your Member of Congress and ask him/her to become a Co-Sponsor of FAST

3)      Please click the links to “like” our Foundation Facebook page & “follow” us on Twitter to get the latest updates and action alerts on PDUFA

Congress must pass PDUFA by the end of September this year or the FDA will no longer be able to review and approve treatments.  We can celebrate then for a short time, and then go back to work again to ensure the FDA develops the guidance on time and provides a predictable pathway for very rare diseases to use biomarkers and surrogate endpoints in clinical trials.  The EveryLife Foundation, through its Rare Disease Workshop Series, will be hosting its fourth Workshop in November together with Academia, NIH, FDA, Patient Groups, and Industry to work on proposals that the FDA could use in drafting their guidance.

While the scientists and academics debate on the science to be included in the guidance, the patient organizations must continue to build our grassroots advocacy community.  We’ve accomplished a great deal, but more legislation is needed to spur the development of lifesaving treatments.  We were successful with 3000 activists, imagine what we could accomplish if we had 30,000 activists.  I hope that you will continue to join us in our endeavor.  We must continue to move ULTRA FAST to ensure that the patients we are fighting for receive lifesaving treatments in their lifetime.

I will leave you with a familiar quote that really rang true in this story: “A small group of thoughtful people could change the world. Indeed, it’s the only thing that ever has.” Margaret Mead

Read more about what’s in PDUFA: Inside Health Policy: Draft Energy & Commerce Bill Reveals FDA Reform Priorities for User Fee Package

RAREProject and The Global Genes Project

Providing Awareness and Education

to the Rare Disease Community

DANA POINT, Calif. – The 5th Annual World Rare Disease Day took place February 29, 2012 with a fanfare of activities worldwide! Sponsoring organizations like NORD and Eurordis engaged in more activities and awareness efforts, garnering increased attention and engagement than previous years.

Once again, Global Genes Project™ helped support and create numerous opportunities to raise awareness for this important day through its grassroots campaigns and programs.

1 MILLION FOR RARE™ CAMPAIGN!

Schools, Local Businesses, Disease Groups, Global Corporations were some of the hundreds of organizations participating in the 1 Million for Rare™ campaign supporting World Rare Disease Day 2012. “The goal of this campaign is to bring awareness of the 350 million affected by rare disease.  It’s a simple way for people to come together on one day to share their voice for this community that is often left unnoticed.”, said Nicole Boice, co-founder Global Genes Project. “Rare Diseases are complex, the science behind the research is complex, the symptoms and medications are hardly pronounceable, making it difficult for the world to support this community in need”.

The Global Genes Project™ plans on continuing to make it easy to get engaged, show support, and build new champions for the millions of children and their families affected by rare disease. Global Genes Project™ will accomplish this through continued programs and educational efforts. “It is hard to generate support for something people don’t understand, we need to help them understand, in their terms, creating simple ways for people and organizations to support this community of millions”, Boice stated.

The Hope Campaign

When one of our parent advocates re-posted a picture that she found with the slogan “Hope. It’s in My Genes!” the Global Genes team never imagined it would have the effect that it did.  More than 700 photos were posted to Facebook in less than a week!  A collage of the pictures was created and the fervent effort to spread rare disease awareness continues through the Hope Campaign.

In addition to photos, our Patient Stories of Hope and Inspiration were featured every day throughout the month of February.  Publication of submitted patient stories on our Global Genes Project Blog have been key to joining people together and furthering awareness.  With such a great response, over 200 stories are in the queue to be showcased every day throughout the year – with more coming in every day.

BLUE DENIM AWARENESS RIBBON’ MAKING AND DISTRIBUTION

Kids Helping Kids with Blue Denim Awareness

Over 40,000 blue denim awareness ribbons were made by volunteers and distributed around the globe in support of World Rare Disease Day – over double the amount for last year.

In addition to making this outreach possible through financial support, these organizations also recognized World Rare Disease Day by hosting events within their respective organizations, incorporating the blue denim theme;

Amylin

Alexion Pharmaceuticals

Sturge Weber

ViroPharma

Thornia Secondary School Rare Disease Club

Support Groups Like – 22q and Marfan Foundation

Sanford Children’s Health Center

GlaxoSmithKline

GlueDots™, make it possible for volunteers of all ages to help make ribbons

Ribbon making activities will continue year round and are being offered to all rare disease advocates and groups for events, activities, etc.

THANK YOU:

A Special Thanks to the current Global Genes Project Team:

• Chris Hempel – Addi and Cassie Fund
• Elizabeth Joshi – Joubert Syndrome Foundation
• Julia Jenkins – Kakkis Everylife Foundation, Rare Disease Legislative Advocates
• Two Hearts Rock – Kerry Hughes and Lori Butler
• Mimi Fehmers – Social Media Expert
• Priya Gupta – Intern at UCLA – Social Media
• Dean Suhr – RARE Project & MLD Foundation
• Jason Omenn – RARE Project
• Amy Grover – RARE Project
• Christie Draper – RARE Project
• Lisa James – RARE Project
• Jen Engleman – RARE Project
• Heather Earley – RARE Project & Russell-Silver Syndrome

Mr. Von Eschenbach couldn’t have stated it any clearer.  On February 14, the Wall Street Journal posted an on-line article by Mr. Eschenbach titled:

Medical Innovation: How the U.S. Can Retain Its Lead, The FDA should approve drugs based on safety and leave efficacy testing for post-market studies.

Mr. Eschenbach, former Director of NCI at the Food and Drug Administration discussed the need for changes at the FDA and offered his insight as to how Congress can help make those changes a reality.   Wall Street Journal Online Article Here.

Say Hi!

The demand for health information on the web continues to increase.  With the utilization of digital products in healthcare, trends toward technological solutions in improving our health is gaining momentum.

For those in the Rare Disease Community dealing with physical limitations precluding them from engaging in the technological world, they will now have an opportunity to participate.  More importantly, they will be able to Speak with a unique communication tool that has recently become  available to iPad users.

Yesterday, the Gwendolyn Strong Foundation (theGSF), a nonprofit organization raising awareness for Spinal Muscular Atrophy (SMA) launched a first-of-its-kind iPad communication app in the Apple App Store.

The App is called “Say Hi! AAC” .  Essentially, it’s an iPad communication app that allows those with challenging physical conditions (e.g. ALS, SMA etc.) to “speak” using the iPad without ever physically touching the iPad touchscreen. Nothing like this exists. It’s completely customizable, it’s FREE from theGSF and it is available now in the Apple App Store!

Gwendolyn Strong was diagnosed with SMA at the age of 6 months.  Like any other child, she has a strong urge to communicate with her peers, friends and family.  The GSF press release and following inspirational blog details the reasons for developing the App: Blog

Questions about the app can be sent to SayHi@theGSF.org.

Last week over 80 RARE Disease advocates lobbied on Capitol Hill to enable better access to Accelerated Approval of therapies.  We discussed H.R. 3737 “Unlocking Lifesaving Treatments for Rare-Diseases Act (ULTRA)” during our day on the hill.

Today, an additional piece of bipartisan legislation, the FAST Act  (HR 4132), was introduced in the House.  Incorporating the features of ULTRA, the FAST Act brings ULTRA closer to parity with the Senate’s TREAT Act.

The EveryLife Foundation reports this …

The EveryLife Foundation for Rare Diseases applauds the introduction today of HR 4132 the “Faster Access to Specialized Treatments Act (FAST)” by Representatives Cliff Stearns (R-FL) and Ed Towns (D-NY). This bipartisan legislation will enhance the FDA’s Accelerated Approval process enabling more development of lifesaving treatments for those suffering from rare diseases. The provisions of FAST incorporate the goals of H.R. 3737 the “Unlocking Lifesaving Treatments for Rare-Diseases Act (ULTRA)”, and moves us closer to agreement with the Senate’s Accelerated Approval language in the TREAT Act that is supported by BIO, PhRMA and NORD.  ULTRA was introduced by Representatives Stearns and Towns in December and is supported by more than 140 rare disease patient organizations. The EveryLife Foundation enthusiastically supports FAST, as it promises to benefit all patients with rare diseases, and looks forward to working with Congressmen Stearns and Towns to bring about needed relief for these patients and their families.

You may see a copy of the FAST Act here. More details about ULTRA, including a list of the over 140 organizations support it can be found here.

Stearns’ Statement on FAST can be seen here.

Over the past two years, the Global Genes Project efforts have been highly visible at the NIH for the annual World Rare Disease Day events.  In 2012, we presented Dr. Francis Collins and Dr. Steve Groft with a Rare Pictures of Hope™ photo book made by thousands of rare disease advocates.

In 2011, Nicole Boice, co-founder of R.A.R.E and Global Genes Project had the opportunity to present Dr. John Gallin (pictured right), the head of the NIH Clinical Center, with a denim Genes Ribbon™ and a ‘Treatable’ t-shirt.

On the heels of a very compelling talk by Dr. Francis Collins (pictured bottom right), Director of NIH, Nicole Boice and Audrey Gordon, executive director of the Progeria Research Foundation, presented Dr. Collins with a 3ft denim ribbon, the symbol of hope for the rare disease community.

Drs. Collins and Groft both wore  jeans to the NIH Rare Disease Day events and encouraged all attendees in 2013 to wear jeans in support of the campaign and the rare disease community as a whole!

On February 7, 2012,  WWL-TV, the CBS affiliate in New Orleans, reported on Christian Billingsley, a 17-year old boy diagnosed with atypical hemolytic uremic syndrome (aHUS) at 3 months of age.

(click on title/link above to see WWL-TV video)

Doug Mouton / Northshore Bureau Chief

February 7, 2012

ABITA SPRINGS, La. — A medical breakthrough is making a normal life possible for a Northshore teenage with a rare disease. Seventeen-year-old Christian Billingsley has Atypical Hemolytic-Uremic Syndrome, which is usually referred to as aHUS. For now, Christian’s young life is dominated by kidney dialysis. An in-home dialysis unit sits permanently in his bedroom. Christian is hooked to the unit six days a week, for three to four hours at a sitting. “It’s painful getting on, and sometimes, because of the way fluid comes off your body I can get cramps while I’m on it,” Christian Billingsley said. “That can be painful too.” For a high school sophomore, daily dialysis makes having a normal social life virtually impossible. Often, Christian gets home from school, starts homework, gets on the dialysis machine, and by the time he’s finished with dialysis, it’s time for bed. As inconvenient as it is, that dialysis machine is literally keeping him alive.

The Family Journey

Christian is now the oldest of Gene and Aida Billingsley’s three children, but before 14-year-old Gabrielle and 8-year-old Brandon were born, Christian was already suffering effects from his disease. The family journey began when little Christian was only three months old, with a huge bout of projectile vomiting. “And he broke out in little bruises all over his body called petechiae,” Gene Billingsley said, “it literally looks like a rash over the whole body.” By the next day, the Billingsleys had a diagnosis, and their fight against aHUS had begun. The disease causes clotting problems and often attacks the kidneys. And the Billingsleys quickley learned of the recurring nature of aHUS. “We’d be in the hospital two weeks, we’d come out, we’d be home a week,” Gene Billingsley said. “It’d come back.” Eight months after the initial diagnosis, Christian’s kidneys went into failure, and he was put on dialysis for the first time.

When Christian was two, Gene Billingsley donated one of his kidneys to his son, with the hope that the new kidney would cure Christian’s problems. Gene Billingsley said, they also had realistic expectations, and knew that even if the kidney didn’t help in the long term, it would benefit Christian’s development short term. And it did, Gene and Aida said. Their goal with their young son was simple: keep him alive and do anything they can to keep him as healthy as possible, until medical science caught up with their son’s disease. The replacement kidney lasted just six months before failing. “So we were completely out of the option of another transplant,” Aida Billingsley said. “He was on dialysis indefinitely.” Christian was surviving, but on a medical rollercoaster. “We would do ok for a year or so,” Aida Billingsley continued, “then we would have some complication, something big happened, and we’d be in the hospital for months at a time.”
The lowest point came not long after Katrina, in late 2005, when Christian was near death in a Memphis hospital. “He was massively infected,” Gene Billingsley said. “All his organs were shutting down.” “The sicker he got, the less he wanted to fight. He was very discouraged, I guess,” Aida Billingsley recalled. “It just got to the point where he wasn’t interested in doing what he needed to do.” Christian survived that near death episode, and it wasn’t the only one. “Five times where the doctors have said, it’s touch and go right now,” Gene Billingsley added.

The Breakthrough

Then in September 2011, the Billingsleys got the medical breakthrough for which they had been waiting. The FDA approved a drug called Soliris, and medical science had caught up. “We did it,” Gene Billingsley said. “This drug takes away all the issues that come up with HUS.” Since getting on the drug, Christian said he feels, “Amazingly different.” He’s healthier now than at any point in his live, and the Billingsleys expect soon, possibly within the next month or two, that Christian will be able to get back on the kidney transplant list. “It would be a miracle in Christian’s life, absolutely,” Aida Billingsley said. The possibility of getting off daily dialysis means Christian can now consider college choices all over the country. “I can go anywhere,” Christian Billingsley said. “It’s like the whole country, like I had a couple little dots on it, and now it’s all lit up.”

For the first time in his life, he said, he feels almost normal. “It’s amazing,” Christian Billingsley said. “I never doubted we’d be in this spot,” Gene Billingsley said. “I just had it put on my heart, in the first couple months that he’s going to be all right.”

Thank you WWL-TV for allowing us to re-print your article!

GLOBAL GENES PROJECT AND RARE PROJECT

RAISING AWARENESS FOR Atypical Hemolytic-Uremic Syndrome (aHUS)

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