Takeaways from the
World Orphan Drug Congress

R.A.R.E. Guest Blogger:  Eileen O’Brien
Director, Search & Innovation
Siren Interactive

The World Orphan Drug Congress, I attended in April consisted of three days jam-packed with presentations and networking. While the event focused on rare diseases and orphan drugs, the scope was still wide and addressed issues ranging from pricing to patient registries to various country regulations.

The highlights for me were the patient/caregiver testimonies scattered throughout the conference which reminded everyone why we were in the room. The presentation by Yi-Ou Wang from the nonprofit organization China-Dolls Fund was especially powerful as she described the lack of social awareness and support for rare diseases in China.

I had the chance to talk with a few empowered caregivers: Melissa Hogan from Saving Case, Lori Sames from Hannah’s Hope Fund, and Kelli Foster from The Mastocytosis Society. I was also pleased to finally meet two legends within the rare disease industry: John Crowley from Amicus Therapeutics and Pat Furlong from Parent Project Muscular Dystrophy.

Harmonization

The theme that was woven through many of the presentations was the idea of harmony—the state of being in agreement. Kinnari Patel, Bristol-Myers Squibb, started the first day by noting that harmonization across all rare disease stakeholders is essential for success. There are a variety of levels of harmonization required, and many of the speakers are working on facilitating these partnerships.

Harmonization between companies

Eric Mosbrooker from Alexion and Mahesh Kolar of Pfizer both talked about the benefit of “big pharma” and small biotechs partnering to bring rare disease therapies to market. Kolar noted that larger pharmaceutical companies can offer global reach, regulatory and reimbursement expertise and manufacturing capabilities.

Harmonization around research

Dr. Nurjana Bachman, Children’s Hospital Boston, discussed that academic medical centers are a place where collaboration is happening between research and industry. She noted that academia is successfully getting involved much earlier with drug development.
What will it take to create a sustainable orphan drug system? Wills Hughes-Wilson, Swedish Orphan Biovitrum, felt that collaboration and cooperation were essential due to the small amounts of rare disease data.

Harmonization on patient registries

Chairing a panel on patient registries, Furlong noted that with multiple drug companies having their own private registries for the same disease it’s very confusing to patients. The panel discussed the benefits that can come from sharing data. According to Dr. Richard Moscicki, Genzyme would be willing to partner with others and collaborate on registries.

Harmonization between governments

Yann Le Cam, EURORDIS, said, “rare diseases are an international public health challenge and need international collaboration.” He talked about the need to have more coordination between the FDA and the EMA. He is part of an international team working on collaboration on policy guidelines. Also needed are rare disease treatment guidelines, access to specialists, and patient and clinical data.

Harmonization with patients

Hans Schikan, Prosensa, talked about the importance of communicating with patients when designing clinical trials. Megan O’Boyle echoed the cooperative feelings of other patients in the room: “We want to help pharma help our kids in any way we can. We will give you our data and help.” O’Boyle has spearheaded the formation of an international Phelan-McDermid Syndrome registry, which in one year has signed-up almost half the diagnosed individuals.
The conference left me with the feeling that there is much work to be done, but also the sense of how far we’ve come. Angus Russell commented that it’s time for an industry shift to put patients at the center, which is reflected in Shire’s tag line “To be as brave as the people we help.”

Editors Note:  Eileen has more than 16 years of digital healthcare marketing experience. She is an opinion leader on social media, and has been invited to speak at industry conferences and quoted in publications. As @eileenobrien she moderates the #SocPharm tweetchat the first Wednesday of every month at 8 pm ET which discusses pharma marketing and social media. She can also be found on Google+.

As with all guest blog submissions, the views and opinions expressed on this guest blog are purely the bloggers’ own and do not necessarily reflect the thoughts or opinions of R.A.R.E. Project.  Any product claim, statistic, quote or other representation about a product or service should be verified with the provider or party in question.

Since 2010, Amylin Pharmaceuticals, Inc.’s blog, Building Blocks, has continued to bring science, and dedication to changing lives through communication.   In Building Blocks - Amylin’s Blog explores top discussions in healthcare, policy, patient commitment and latest scientific advancements in managing diabetes and obesity.

Recently, our very own Nicole Boice, Founder and President of RARE Project was featured on Building Blocks discussing World Rare Disease Day, February 29, 2012. If you would like to read the editorial please click on this link: Amylin Building Blocks Blog.

"Building Blocks" - Amylin Pharmaceuticals

GGP, WRRD, and RMDA - Together

As a mom with a child with rare disease, I can relate to the needs of other parents and caregivers about raising awareness for their children.  Most of my blog entries are either about my son’s or other children’s rare disease, and my tweets on Twitter are typically about RARE Disease advocacy.

The other day, I met a woman on Twitter who’s son Dustyn had RMD (GA1) (Rare Metabolic Disorder – Glutaric Aciduria Type 1).  I had been following her tweets after accepting an invitation from her.   It wasn’t just her tweets that interested me – it was the background of her Twitter profile that caused me to pause.

This mom @RareMetabolic, using three different symbols of hope, unity, and awareness had produced an inspiring photo and placed it on her Twitter profile.

I was immediately enthralled by her ability to combine three of the most important pieces of rare disease awareness together into one symbol.  It wasn’t solely to focus on the disease that affected her and her son’s life, it represented a desire to look toward the future with organizations that are searching for the same outcome: research, disease awareness, collaboration, and support.

Dustyn and RMDA type

Kudos to @RareMetabolic for reminding us about the importance of  coming together for rare disease!

P.S.  @RareMetabolic –  The following question was posted by you on another rare disease site.  I was wondering if you knew where I could find a complete list of inborn error of metabolism?    Hopefully, the following information from Mayo Medical Laboratories is helpful to you. IEM

See this post for more comments here: http://rareproject.org/2012/02/10/lady-gaga-born-this-way/

Born This Way Foundation

On February 29, 2012 – World Rare Disease Day is celebrating the Rare Disease population, instilling hope and inspiration to others, creating awareness for their inherent disabilities and often incurable chronic diseases.

We’re All Born This Way!

Unity creates empowerment.  On February 29, together, we can continue to create awareness about RARE Disease, research and better treatments.  Together we can empower our children to love themselves and find their identity amongst a population that misunderstands those who are “different”.  Together, we can help our children become the individuals they were meant to be uniquely – R.A.R.E.

While the Born This Way Foundation is not explicitly supporting or acknowledging RARE Diseases as a primary issue, your message to Lady Gaga on her Facebook page HERE or via Twitter  HERE could start the momentum to convince her otherwise.  For now and for the highest impact, we’d suggest you show your undivided support for RARE Disease by joining the RARE Project community (see below) and visting the Global Genes Project, which focuses exclusively and powerfully on RARE disease.

http://GlobalGenes.org
http://bornthiswayfoundation.org/

‘MEET JUNE!’

I am a 43 year old woman with Relapsing Polychondritis. 1 in 3.5 Million people are diagnosed with this disease. My favorite saying is “I couldn’t just win the lottery??”  I was diagnosed by my allergist who recognized my swollen ears, a hallmark of this disease. Some day it will probably kill me, but, as they say, ‘no one gets out alive’, it’s what you do with what you have that matters!

In the important parts of my life, I am a mom of two adult sons, a wife of 20 years, and have two dogs and two cats. My submitted picture is of my service dog, Dante. I am currently losing my hair due to the disease and medications, and he has a cheery smile.  I teach children with special needs at the Leavenworth School District here in Kansas, and return to Michigan to my home.  There were no jobs in Michigan so I came to Kansas to teach. My school family is wonderful and makes both living far from home and with this disease much easier.  I have a long- worked for Ph.D. in Autism, communication, and special education, which I earned May 2011.  RP was NOT going to take that away!

While I am a “survivor” with this rare, serious, difficult disease, I refuse to be defined by it.  As February 29th comes, we will be “Leaping for Rare Diseases” to raise funds for NORD, in a jump-rope-a-thon at the middle school where I teach.  I can’t jump but will be organizing and supervising.  I am hoping for research that discovers what causes, and cures, the rare illnesses all of us face.  My students, who live with Autism and varying other disabilities, will be jumping too!   For anyone who has this, or other rare diseases, we must continue to do all we can to make these “rare” diseases “cured” and eliminated. Once they believed chicken pox, rubella, measles, and many other illnesses could not be conquered. Once we understood them, we were able to practically eliminate them. This is my goal for our children’s future- that what is untreatable now will be unknown in the future.

June Cotter
Kansas

RDLA is partnering with the EveryLife Foundation for Rare Diseases, RARE Project, Sarcoma Foundation of America, Darlington House and ViroPharma to ensure that rare disease advocates are present on Capitol Hill during Rare Disease Week!  Join us and make sure Congress hears your voice!

Lobby Training Breakfast
7:30a.m. – 9:30a.m.  Darlington House 1610 20th ST NW Washington DC

Learn about the Rare Disease Congressional Caucus and legislation to help spur the development of treatments for rare disease patients, including the ULTRA Act and Creating Hope Act 

Hill Meetings with your Representatives
10:00a.m. – 5:00p.m. on Capitol Hill
Transportation will be provided from the Darlington House to Capitol Hill

Each advocate will be scheduled for at least three meetings

Happy Hour Lobby Day Celebration
5:30p.m. – 7:00p.m.  Darlington House 1610 20th ST NW Washington DC

Join us to share your meeting experiences and feedback from Congress
The happy hour includes appetizers & a no host bar

Please click YES below to register for this event.
You must provide your home address in order for us to help schedule a meeting with your Members of Congress:

Financial Assistance Available:  To help offset travel costs, $500 travel scholarships are available to advocates who wish to attend and have financial need.  To apply, please click here to download the application.  A limited number of scholarships are available.  Scholarships will be distributed in order to ensure a diverse representation of the rare disease community can participate.  Please return completed applications via email to patientadvocate@kakkis.org or fax at 415-884-0562.

HOTEL:  We have reserved a block of hotel rooms for Monday & Tuesday nights at The Embassy Row Hotel at the discounted rates of $169 single or $189 double per night.  The Hotel is located in Dupont Circle a 5 minute walk from the Darlington House.  To receive the discounted rate, please book directly with the Hotel by calling 202-265-1600 and mention the group “Rare Disease Day Lobby Day.”  Please book your hotel room immediately as we will not be able to guarantee this rate once our block of rooms is filled.  Discounted rate expires on Feb. 20th.

‘MEET THE SPOONER FAMILY!’

Rick and Cristyn Spooner of Rancho Santa Margarita have fostered a dynamic husband and wife team both as business partners and in raising three beautiful children. Despite achieving success in operating their loan company, the Spooners have faced greater challenges and discovered even greater meaning in their lives through the caring of three daughters, two with a rare and physically debilitating disease.

Of the three daughters, two were each diagnosed at only eight months old with a rare genetic disorder that disallows them to lead normal lives. In addition to running a business together, Rick and Cristyn juggle the needs of their three daughters, two daughters both of whom have trouble walking and talking.

“The Spooners represent the 35 million in the US who are in constant battle with a rare disease,” said Nicole Boice, president and founder, R.A.R.E. Project. “Seventy-five percent of those affected are children, such as the Spooner’s daughters.  This brings home the need to raise hope among these families and assure them they are not alone in their day-to-day struggle.”

SPOONERS JOIN R.A.R.E.

TO RAISE AWARENESS FOR RARE ORPHAN DISEASE DAY FEBRUARY 29TH.

To help families such as the Spooners, R.A.R.E. Project (Rare Disease, Advocacy, Research and Education) has launched The Global Genes Project to raise awareness and funding for rare disease research globally.  By using a micro-donation website, R.A.R.E. Project aims to achieve the goal of raising financial support  to establish quality disease databases; drive analytical research; fund peer reviewed multi-disease projects; impact policy and collaboration; and fund disease research foundations.

“Rare disease is not rare and that there are millions of parents like Rick and Cristyn advocating on behalf of their children with little to no broad support,” said Boice.  “Rare disease affects more people globally then any other disease, more than AIDS and all cancers combined.”

More than 35 million people in the US suffer from rare diseases. This figure is significantly larger when compared to 28 million people with cancer worldwide and 1.2 million people with AIDS in the US.  Fifty percent of rare diseases have little or no individual advocacy group driving awareness and support. In the last 25 years, only 350 new drugs for fighting 7000 rare diseases have approved by the FDA.

R.A.R.E. Project exists to raise rare disease awareness, unify, equip and empower a vibrant global rare disease community and fund innovations to support ‘in-their-lifetime’ rare disease research.

For more information, please visit www.rareproject.org.

Are you an advocate for Rare Disease?

Are you interested in furthering the development of treatment options for Rare Disease?

Are you wanting to attend but just not sure how to get there?

JOIN US AND MAKE SURE CONGRESS HEARS YOUR VOICE!

RDLA has $500 travel scholarships available to advocates who wish to attend and have financial need.

RDLA (Rare Disease Legislative Advocates) is partnering with the EveryLife Foundation for Rare Diseases, RARE Project, Sarcoma Foundation of America, Darlington House and ViroPharma to ensure that rare disease advocates are present on Capitol Hill during Rare Disease Week!

SCHEDULE OF EVENTS:

Lobby Training Breakfast

7:30a.m. – 9:30a.m.  Darlington House 1610 20th ST NW Washington DC
Learn about the Rare Disease Congressional Caucus and legislation to help spur the development of treatments for rare disease patients, including the ULTRA Act and Creating Hope Act 

Hill Meetings with your Representatives

10:00a.m. – 5:00p.m. on Capitol Hill Transportation will be provided from the Darlington House to Capitol Hill
Each advocate will be scheduled for at least three meetings

Happy Hour Lobby Day Celebration

5:30p.m. – 7:00p.m.  Darlington House 1610 20th ST NW Washington DC
Join us to share your meeting experiences and feedback from Congress
The happy hour includes appetizers & a no host bar

You must provide your home address in order for us to help schedule a meeting with your Members of Congress:

Financial Assistance Available:  To help offset travel costs, $500 travel scholarships are available to advocates who wish to attend and have financial need.  To apply, please click here to download the application.  A limited number of scholarships are available.  Scholarships will be distributed in order to ensure a diverse representation of the rare disease community can participate.  Please return completed applications via email to patientadvocate@kakkis.org or fax at 415-884-0562.

If you can’t join us in DC, please stay tuned for Action Alerts!  We will email you ways to participate in Rare Disease Day from your home or office by making calls and sending emails to your Members of Congress and sending emails to support legislation that will help spur the development of lifesaving treatments!

WHERE:        Washington, DC

WHO:           RDLA

RDLA (Rare Disease Legislative Advocates) is partnering with the EveryLife Foundation for Rare Diseases, RARE Project, Sarcoma Foundation of America, Darlington House and ViroPharma to ensure that rare disease advocates are present on Capitol Hill during Rare Disease Week!

Join us and make sure Congress hears your voice!

SCHEDULE OF EVENTS:

Lobby Training Breakfast

7:30a.m. – 9:30a.m.  Darlington House 1610 20th ST NW Washington DC
Learn about the Rare Disease Congressional Caucus and legislation to help spur the development of treatments for rare disease patients, including the ULTRA Act and Creating Hope Act 

Hill Meetings with your Representatives

10:00a.m. – 5:00p.m. on Capitol Hill Transportation will be provided from the Darlington House to Capitol Hill
Each advocate will be scheduled for at least three meetings

Happy Hour Lobby Day Celebration

5:30p.m. – 7:00p.m.  Darlington House 1610 20th ST NW Washington DC
Join us to share your meeting experiences and feedback from Congress
The happy hour includes appetizers & a no host bar

You must provide your home address in order for us to help schedule a meeting with your Members of Congress:

If you can’t join us in DC, please stay tuned for Action Alerts!  We will email you ways to participate in Rare Disease Day from your home or office by making calls and sending emails to your Members of Congress and sending emails to support legislation that will help spur the development of lifesaving treatments!

Submit art by Tuesday, February 7, 2012 at 5 pm PT

We accept art in the following forms:

• Painting
• Photography
• Mixed Media
• Collages
• Pottery
• Sculptures