Siren Interactive

Physicians are trained to arrive at a medical diagnosis by starting with the potential causes that are most common. The adage is “When you hear hoofbeats, think horses—not zebras.” This is logical and effective if a patient has a common condition, but the diagnosis of an orphan condition requires a different approach. The National Organization for Rare Disorders estimates that it takes an average of 9 years for a rare disease patient to get an accurate diagnosis.

This means that many patients, caregivers and physicians are online searching for answers, using search engines and forums. But, if you’ve ever tried searching Google or Bing for rare disease symptoms, you know that this is not effective. Enter Radu Dragusin from the Technical University of Denmark and a few colleagues who have launched a new search engine dedicated to the diagnosis of rare diseases called FindZebra.com.

Their study published in the International Journal of Medical Informatics shows FindZebra outperforms Google. The research explains that the algorithms of popular search engines (such as Google) favor websites that have a number of other websites linking back to them. These links validate that the information has been found useful to others. But by its very nature, information on rare disorders is typically scarce and has fewer backlinks.

How does FindZebra work?
The study notes: “It uses a specially curated dataset of rare disease information, which is crawled from freely available online authoritative resources. This means that FindZebra searches for rare disease information from a repository of ‘clean,’ specialized resources, unlike web search engines that search the whole web and are hence likely to return spurious, commercial and less relevant results.”

How does FindZebra compare to Google?
This blog post describes the success: “Evaluating on a set of 56 queries…Zebra easily beats Google. Zebra finds the correct diagnosis in top 20 results in 68% of the cases, while Google succeeds in 32% of them.” I did my own comparison and searched “purple urine,” which is a common symptom of a group of orphan conditions called Porphyrias. On Google, Porphyria doesn’t appear on the first three pages of the results, but for FindZebra it’s the second choice, with Acute Intermittent Porphyria showing as the seventh and eighth results.

On FindZebra is a warning that it is a research project and it is to be used only by medical professionals. It will be interesting to see how FindZebra evolves and if it gains wide adoption among healthcare professionals and patients. I know I’ll be using it. Will you?

For more information on orphan drugs and rare diseases, check out the World Orphan Drug Congress USA. Siren Interactive was a silver sponsor of the 2013 event.

Observed annually on the last day of February, Rare Disease Day is coordinated at the international level by the European Organisation for Rare Diseases (EURORDIS) and the National Organisation for Rare Disorders (NORD) in the US. The Rare Disease Day 2013 slogan is “Rare Disorders Without Borders” to convey the global solidarity of the rare disease community worldwide and the need for collaboration and mutual support in the field of rare diseases.

> Click here to download the full press release

Shire is a platinum sponsor of the upcoming World Orphan Drugs Congress Asia that is happening from 18-19 June 2013 at Grand Copthorne Waterfront Hotel, Singapore.

The much-celebrated orphan drug Kalydeco (ivacaftor) will be made available to the estimated 13 eligible patients with cystic fibrosis in Wales, confirmed Mark Drakeford, Welsh Assembly Minister for Health and Social Services, last Friday (May 10^th). Not only will this be great news for the manufacturers, Vertex, but it’s also great news for patients and those who campaigned for the drug to be made equally accessible across the UK.

“We are delighted that the Minister has recognised that patients in Wales should have the same access as people in the UK to this medicine,” said Ed Owen, Chief Executive of the Cystic Fibrosis Trust. “I would like to thank Mr Drakeford for listening to the voice of people with cystic fibrosis in Wales.”

The news comes after the All Wales Medicines Strategy Group (AWMSG) had recommended against funding the orphan drug – which is estimated to be about £180,000 per patient per year.

According to the Cystic Fibrosis Trust, about 4% of patients across the UK have the G551D mutation for which Kalydeco is licensed. In a statement, Vertex said they were encouraged to learn the Chief Pharmaceutical Officer in Wales has been asked by the minister to set up a review of the Welsh appraisal process for orphan and ultra-orphan drugs.

Are you pleased to see Kalydeco being made increasingly available in Europe?

This news comes amid reports that the orphan drug market is set to reach $127 billion by 2018. This infographic shows some more important facts about orphan drugs and rare diseases.

If you want to know more about innovation and strategy in the orphan drug market, you might be interested in attending the World Orphan Drug Congress Asia, 18-19 June 2013, Singapore, or the 4th World Orphan Drug Congress Europe, in Geneva on the 14th November 2013.

• The first and only FDA approved drug to target the defective CFTR protein
• Approaches and strategies to deploy biomarkers research in the orphan drug discovery process

World Orphan Drug Congress USA is the largest international, commercially-focused event for the advancement of rare disease research and orphan drug development.

For more information, go to www.terrapinn.com/orphandrug.

• Identifying and supplementing the natural history
• Developing endpoints that reflect the disorder, the impact of a therapy, and that can be utilized in multiple sites and acceptable to regulatory authorities
• Establishing the regulatory path
• Identifying patients (particularly when targeting subsets of patients (eg patients with a nonsense mutation)

World Orphan Drug Congress USA is the largest international, commercially-focused event for the advancement of rare disease research and orphan drug development.

For more information, go to www.terrapinn.com/orphandrug.

Siren Interactive

If it seems like we are always asking ourselves this question, that’s probably a good thing. All relationships require nurturing and regular self-examination. The only way to create strong partnerships is to ask ourselves now and then what we’re contributing and whether or not it is what the other party in the relationship is truly seeking.

So what do patients want from pharma? The obvious answer is, of course, effective and safe treatment. That never has and never will change. But a recentstudy from Manhattan Research has me thinking about what else patients are seeking from pharma.

Patients want support
One thing patients want, it appears, is access to support. Thirty percent of online consumers with a chronic condition and 38 percent of caregivers are interested in registering for a patient support program, according to the Manhattan Research study. These programs appear to be working, since 75 percent of online consumers who used online pharma patient support programs said they feel confident the prescription they have is right for them or those they take care of because of these services. The most popular features mentioned by the 6,607 US adults in the study were financial assistance, meal plans and recipes, tools to track and manage a condition and a registered nurse hotline.
For rare diseases, which are often challenging and lifelong conditions, assistance like this may be especially valuable, so long as it truly meets the needs of the people who are affected–and providing that patients and caregivers know how to access assistance. Monique Levy, Vice-President of Research, notes that “…pharma isn’t top-of-mind as a destination, so marketers must consider partnering with other health resources such as general health websites, pharmacies and hospitals in an effort to gain traction for these programs.”

The key word is partnership
After last year’s World Orphan Drug conference, Melissa Hogan wrote a compelling post entitled “What We Want from (Big) Pharma,” on her Saving Case blog, that is definitely worth a second look. She talks about four things that caregivers want from companies that go beyond the foundation, which is excellent science:
- Transparency
- Commitment
- Compassion
- Partnership.

Here is how Melissa Hogan elaborates on the last one: “We see it as a partnership and expect to be treated as an equal partner in this process of trying to save the lives of our children. It’s not even necessarily ‘patient-centered’ relationships as that term is now being bantered about so much, it is partnered relationships, with parents, physicians, payors, regulators, and pharma as equal partners. We’ll play our part, and we’ll even give you guidance as to how to play yours.”

Know your partners’ needs
What do patients and caregivers want?  All you have to do is ask.  We are constantly impressed with how open-hearted rare disease patients and caregivers are, sharing their lives and stories to help others who face the same challenges…and how willing and even anxious they are to help us understand their needs.

There are rules and regulations to observe of course, but to echo Melissa Hogan, let’s not forget that we are truly partners in improving the lives of people with rare diseases. The relationship between patients, caregivers and pharma companies is one of mutual interest, but it also must be one of mutual respect.

And if you have any questions, just ask.

For more information on orphan drugs and rare diseases, check out the World Orphan Drug Congress USA. Siren Interactive was a silver sponsor of the 2013 event.

> Click here to download the full press release

Shire is also a Platinum Sponsor in the upcoming World Orphan Drugs Congress Asia, happening in Grand Copthorne Waterfront Hotel, Singapore from 18-19 June 2013.

Genpharm Services are a specialty pharmaceutical marketing and consulting company, providing our strategic partners with fast and sustainable market access into the MENA (Middle East & North Africa) region, including business development, in-licensing and more. We operate through evidence-based medicine and the highest ethical standards. Our expertise is based on an in-depth knowledge of the pharmaceutical market and the local business culture. Furthermore, our vast experience and the trusted network of partners allow us to deliver market opportunities for specialty, rare disease, biotech and innovative healthcare organizations.

In conjunction with partnering with the 2013 World Orphan Drug Congress, Genpharm Services are sharing two whitepapers that discuss important challenges facing rare disease research and orphan drug development.

Download the Whitepaper on the Challenges Faced in Rare Disease Product Development

Download the Whitepaper on the Role of Patient Association in Orphan Drug Development

Whilst your getting your hands on some beneficial content, why not check out our eBook, showcasing the best presentations from the last year’s World Orphan Drug Congress in Geneva. Download a copy here >

The 4th World Orphan Drugs Congress Europe is a content packed, 2 day event with 2 dedicated tracks and is taking place this year in November. For more information about the event, please visit the website >

I attended the World Orphan Drug Congress USA last week in Washington, DC, and Siren presented the workshop, “A Roadmap for Patient Advocacy Investment.” In the rare disease space, patient engagement is critical to every step of a drug’s development, including: filling clinical trials, getting FDA approval, obtaining reimbursement, getting patients diagnosed and promoting adherence.

Wendy White moderated with presentations from Jamie Ring of Genzyme, a Sanofi Company and Diane Goetz of PTC Therapeutics. Pat Furlong of Project Muscular Dystrophy and Lori Sames of Hannah’s Hope Fund provided the patient advocacy perspective. The event was overflowing with attendees–a mix of representatives from biopharmaceutical companies and advocacy organizations.

Liz Donohue from Coordination of Rare Diseases at Sanford (CoRDS) shared her takeaways.

Megan O’Boyle from the Phelan-McDermid Syndrome talked about her highlights.

Lori’s recommendation to other patient advocates on how to work with pharma.

See Siren’s YouTube channel for more videos from the World Orphan Drug Congress USA including a review of the importance of patient registries.

For more information on orphan drugs and rare diseases, check out the World Orphan Drug Congress USA. Siren Interactive was a silver sponsor of the 2013 event.

Siren Interactive

A key theme of the World Orphan Drug Congress 2013 was the need to innovate when it comes to the rare disease space. Presenters shared how rare diseases necessitate a different approach ranging from clinical trials to working with patients and the US Food and Drug Administration.

Claudia Hirawat, President of PTC Therapeutics, described some of the challenges of working on orphan conditions including the fact that the natural course of the disease is often not well documented and there may be limited standardization in diagnosis and treatment. Dr. John Orloff, Chief Medical Officer at Novartis, concurred “In many cases we’re finding that in order to move forward we have to do natural history studies to understand the trajectory of disease.”

Chris Garabedian, CEO of Sarepta Therapeutics, stressed the importance of innovative drug development and innovative regulatory science for boys with Duchenne Muscular Dystrophy who have no approved treatment. The Rare Disease Report provides a summary of his presentation and a few others.

More ideas from more sources
Dr. Freda Lewis-Hall, Chief Medical Officer at Pfizer, said “We must confront the reality that the research and development approach for large-scale chronic diseases doesn’t readily apply to rare diseases.” The current R&D model is linear and can become stalled, with bench to bedside taking a generation. She noted the success that prizes, games and crowdsourcing has had to move issues forward. She declared “We need more ideas from more sources.”

The theme of innovation was carried through to a panel on clinical trials where Dr. Phil Vickers, Senior VP and Head of Research & Development at Shire HGT, described transforming the clinical research model. He asked, “Why can’t we go to the patients and bring the technology to them remotely?”

The power of patients
Another key theme was the essential role that patient advocates play in orphan drugs. A unique feature of this space is that advocates are driving drug development and research, independent of, as well as in conjunction with biotech/pharmaceutical companies and academic research centers. What’s great about the World Orphan Drug Congress is the number of patient advocates that present and attend the conference.

At Siren’s workshop on the topic of collaboration with advocacy groups, Jamie Ring, VP of Patient Advocacy–Rare Diseases and Humanitarian Programs at Genzyme, a Sanofi Company, noted Genzyme’s 30 year history in orphan drugs. Genzyme is a leader in the advocacy space, with Jamie leading a team of eight. They have transparent guidelines on how they collaborate with patients: they do not talk about products/brands, they do not provide medical advice and do not work with patients for a purpose that is not aligned with their values. Jamie said, “In rare diseases one size does not fit all in regards to patient advocacy organizations. You may have an advocacy organization or just an individual patient and both require and deserve support.” Jamie highlighted the Genzyme Rare Community blog which features Genzyme’s Principles of Collaboration and best practices of different advocacy organizations.

She provided advice for biopharma companies interested in collaborating with patient advocacy organizations including:

• The company needs to have a single point of contact for advocacy groups to streamline activities and aid with clear and consistent communication.
• Think creatively, there are ways other than money in which to provide support. Jamie gave the example of Genzyme’s Patient Advocacy Leadership Awards which also promotes grant writing support.
• Do what you say you are going to do! The basics matter.

When Jamie was asked how to get senior leadership buy-in for the advocacy role, she described the need to continually educate internally on the importance of the patient advocacy function. It’s also important to bring the patients to the table.

The power of one advocate
Diane Goetz, Senior Director of Patient and Professional Advocacy at PTC Therapeutics, started her presentation by declaring that at PTC Therapeutics she IS the advocacy function! Diane represented the other end of the spectrum, working for a privately-held company working on pre-launch products. She described how advocacy groups can help with physician key opinion leaders, recruit patients, speed drug approval, support compliance, distinguish a company and provide assistance in a crisis.

Diane recommended biopharma companies make a public commitment to communicate clinical plans, timelines and other relevant information. She advised responsiveness and accountability to advocacy groups. Diane also noted that advocacy groups must remain neutral in order to be effective.

Patients are the starting point
Pat Furlong, Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), shared her personal story and the genesis of PPMD. She noted that after 20 years, PPMD has true partnerships with clinicians, academia, biopharma, healthcare agencies and government.

Lori Sames, Co-Founder and Executive Director of Hannah’s Hope Fund, shared her four year journey from the diagnosis of her daughter with Giant Axonal Neuropathy (GAN) to running a virtual biotech. She advised patient organizations to have something to bring to biotech and pharmaceutical companies. She noted that for pharma to want to support your diseases you need to bring value, whether it’s a natural history study or patient registry. These are valuable assets that will help the biopharma company decide to invest in a disease. She urged advocates to focus on more than awareness.

Lori made the point that for donors, the word “research” doesn’t really mean anything. She uses the phase “therapy development” because that is where the money her organization raises is going–to a treatment.

Pat summed up the afternoon: “It’s important that patients are the starting point for initiatives concerning them. There is a lot to win if their experience and expertise is utilized.”

For more information on orphan drugs and rare diseases, check out the World Orphan Drug Congress USA. Siren Interactive was a silver sponsor of the 2013 event.