Patient-centered approach for rare diseases is full of innovative potential

March 11, 2015 Erin Righetti

IMG_0480_rarediseaseAt yesterday’s BIO-Europe Spring® panel, “Rare disease, a patient-centric approach,” experts came together to discuss approaches to connecting with the patient through their diagnosis, management and treatment.

The panel, which took place Tuesday, March 10, was moderated by Sylvain Forget – Founder and CEO, Nassyane; Co-Founder and COO, gmp-orphan, with panelists Anne Beal – Chief Patient Officer, Sanofi; Serge Braun – Scientific Director, Association Française contre les Myopathies – AFM; Luc-André Granier – CEO, Advicenne Pharma; and Luigi Ravagnan – Head of External Relations and Partnerships, French Foundation for Rare Diseases.

Beal started the discussion by stating that one of the challenges in studying the comparative effectiveness of treatments for rare disease is that the comparison is usually not valid since there is often only one treatment for a given rare disease. Beal said that the biggest challenge is in the diagnosis, not the treatment, of the patient. Pushing ourselves to a patient-centered approach will take us in a different direction, she said.

Braun made the point that patients not only have things to say, they can act and make policy decisions. We now know that 55–65% of the genes responsible for rare disease, said Braun. Gene therapy has become more popular, but the reason is in the clinical data showing proof of concept, especially in rare disease. Gene therapy is now becoming more a focus of pharma, and this is because of long-standing support from patients.

Granier said that there is a big difference in patient approaches between non-orphan and orphan diseases. For non-orphan diseases, you simply conduct the research and analyze the results, said Granier. For orphan disease, the clinical trial is small and you have direct contact with the patients with genetic testing.

The patient often wants to know after the trial if they can get access to the product when it is available, said Granier. With orphan disease, everyone is working closely together from the beginning.

Ravagnan explained that a foundation is a typical example of the power in patients driving research. We wouldn’t be here without patient associations, said Ravagnan. Without the various patient entities, we wouldn’t have a national plan, he said.

In response to a question about the greatest achievement and top priority for orphan disease  moving forward, Beal said that when we think about the progression of patient organizations, they have gone from advocating policy, to raising money, to funding research, to funding experts, to today’s highest level of involvement of driving the drug development process. Patients drive innovation and new science, said Beal.

Beal gave the example of patient group involvement in driving research for Duchenne’s, for diabetes, and for Parkinson’s disease. These groups have actively driven research, said Beal. This is the future of scientific research, especially in the sphere of rare disease.

Braun agreed, saying, “Patients are not only voices, but they are real actors.” With regard to gene therapy, for many years there was no large GMP manufacturing facility for gene therapy, said Braun. Nobody was able to produce large scale technology, so patients decided to build their own GMP facility. They have now been granted status as a pharmaceutical facility, the first of its kind.

This demonstrates that patients are not only assistants and advocates but real partners, said Braun.

Granier said that one thing that has changed dramatically in the last 20 years is awareness, thanks to patient organizations that made their voices heard regarding research, healthcare and awareness of political processes.

Ravagnan said that the biggest challenge is in the framework of policy in Europe which has driven dramatic effects. Since 2000, we have had 1,200 designations out of 1,800 applications at the national level. One of the biggest challenges we face is slowing down, said Ravagnan.

Now that the public and the life science industry is aware of rare diseases and the need for treatments, a lot of drugs are expected to arrive on the market. But is this sustainable?

Ravagnan stated that there are a lot of pressures on the system, and on the costs for government. The percentage of expense within drug development budgets for orphan drugs is 3% in the French system, and is expected to be 5% by 2020. Rare disease treatments have high prices, said Ravagnan. What is the cost beyond the medical cost, asked Ravagnan. What is the social cost?

Granier responded that the problem is where we put the priority. One of our missions is to help the political system become aware that in fact, a disease which is not treated costs three to four times the cost of the drug, said Granier. The solution lies in teaching people, said Granier.

Braun said that things that were not negotiable when he was with Trophos and they were acquired by Roche included patient access to trials and to drugs for SMD, the program that targets patients with SMD, and the assurance that once the patient stopped the program they {Trophos} would be able to target the patient for SMD. We are working on a new model with different stakeholders, said Braun. We have to work on that or innovation will be killed, said Braun.

Beal said that when you have a patient-centered approach to what you are doing, you have policy that keeps in mind the intentions of the patient. Some of the policies get in the way of the partnerships we want to have, said Beal. Policy is going to have to change to truly give patients a seat at the table, she said.

One novel approach to patient advocacy and involvement is crowdfunding. Granier said that with nearly 7,000 rare diseases, there is room to be innovative.

Beal gave a word of caution to the crowdfunding model. It is a very dynamic field, she said. If you look at recent innovative and highly successful initiatives, such as the ALS Ice Bucket Challenge, there was a huge surge in funding, but as a funding tactic, as a marketing tactic, is it sustainable?

Still, said Beal, there is a lot of opportunity, and a lot of potential for innovation.
Revisit the partnering360® Blog for more updates from BIO-Europe Spring 2015 in Paris.BIO-Europe Spring® 2015

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