Genetic advances towards personalised medicine: hope for rare diseases

Rebecca Aris interviews Pierrick Rollet

GSK Biologicals

The field of genetics is advancing dramatically and with these advances the prospect of true personalised medicine become increasingly more real. This brings hope to those with rare diseases where small patient populations result in insufficient clinical trial participants, which is a barrier to treatment development in the rare disease space. In addition, small patient number s can make research and development of treatments too costly to undertake.

We spoke with Pierrick Rollet of GlaxoSmithKline Biologicals unit who brings a passion for genetics to the area of rare diseases. He enlightened us on the prospect of personalised medicine in such disease areas and of the differences he’s noted working across different geographical regions and by comparison to more common therapeutic areas.

Interview summary

RA: Hello Pierrick, and thank you for joining today. Could you just start by telling me how you came to work in the rare disease space and what your role involves?

PR: My role in the rare disease group in GSK is Head of Market access, advocacy and communications. Rare disease team in GSK has been set up, last year in 2010, and I came to work in this group, attracted by the scientific challenges and the opportunity to serve patients. There’s a current fundamental scientific shift in this therapeutic area with notably significant scientific advances in the genetics. This makes rare diseases probably a pilot to what personalised medicines could become in a near future. With my experience and background in GSK and pharmaceutical industry I thought it was a great challenge and a great team and project to join, and this is what I did end of last year.

“Significant scientific advances in genetics mean that personalised medicines actually could become a much broader reality than they are today, in the near future.”

RA: How would you define rare disease, and what type of disease does the term include?

PR: Rare diseases are defined in the US and Europe by a certain level of prevalence. Rare diseases are in their majority of genetic origin. They also are very severe, degenerative, life threatening, progressive diseases, with very high social impact on families and patients. Rare diseases patients are underserved with less than 3% of rare diseases covered by a treatment today. The unmet need is high, and in most of these diseases, palliative care is the only standard of care with no option for treatment.

RA: What are the biggest differences in working with rare diseases compared with the more common therapeutic areas?

PR: The biggest difference of course is the fact that you are dealing with a very small number of patients. This creates significant challenges and constraints in clinical development and access to treatment.

• Rarity makes knowledge hard to obtain,

• Rarity renders research fragmented or unpursued,

• Rarity leaves treatments undeveloped.

Patients with rare diseases are an unusually close-knit community. Their numbers are small and they are often experts on their conditions, and to understand these diseases and possible treatments it makes sense for a company such as GSK to get close to this rather special community in ways different to that of a traditional pharmaceutical company.

RA: What diversity do you see in managing rare disease across different countries?

PR: First of all we see very different legislation. In the US, Europe and some other countries such as Australia, Korea or Japan, legislation is in place to incentivise development and access to orphan and rare disease treatments. However these countries are in the minority and there’s an urgency to act to create global reach for rare diseases treatments. Rare disease patients suffer from inequalities due to the very nature of their illnesses. Access to treatment is also very unequal depending upon health care systems and there is need for new systems that would facilitate access to treatment across variety of health care settings.

RA: With the small patient numbers and the high cost of drug development in these areas, how can we manage patient access to the appropriate treatment?

PR: Having a rare disease should not automatically translate into a sentence for living a diminished life. Patient access to an appropriate treatment should therefore be the priority of all stakeholders involved in development or commercialization of rare diseases drugs. Legislations today in place in the US or in Europe have created successful incentives for the development of rare disease treatment. Research and developmentis however always associated with risk and complexity. There’s a need for optimisation of existing incentive systems to facilitate development and access to rare diseases treatments.

“Patients with rare diseases are an unusually close-knit community.”

RA: What role do patient organisations have to play in patient access to treatment in this area?

PR: Patients with rare diseases are an unusually close-knit community. Patient organisations have a central role and are key stakeholders in this area. They are extremely knowledgeable, well organised, and they are very important scientific partners. At GSK Rare diseases, patient organizations are systematically involved in what we do.

RA: What impact have you noticed on orphan drug development since the implementation of the EU paediatric regulation?

PR: The Orphan drug directive set in the year 2000 in Europe has had a big impact. The number of orphan drug designations, (drugs which have the status of orphan), has increased dramatically over the past 10 years, and this is very good news both for the research and for patients. Despite these policy frameworks, patient access to orphan drugs is still not sufficiently equitable and timely across Europe.

Patients with rare diseases deserve the same care and the same safety, efficacy and quality of products as patients with common diseases. It is the duty of the EU, governments, patient groups and industry to find solutions that allow a sustainable and equitable access to orphan drugs for patients and GSK is determined to play its role in allowing this to happen.

“Patients with rare diseases deserve the same care and the same safety, efficacy and quality of products as patients with common diseases.”

RA: In your opinion what impact does current orphan drug legislation provide in stimulating orphan drug development for ultra rare diseases?

PR: As I mentioned earlier, the recent ten year anniversary of the EU Regulation on Orphan Medicinal Products, the European Commission Action Plan on Rare Diseases and the Council Recommendation for Action in the field of Rare Diseases have shown that these legislations had a significant impact in stimulating and providing incentives to research and development. Tax incentives on research such as the one in place in the US are also extremely important to stimulate taking risk and engagement into research.

RA: Great Pierrick, thank you very much for your time.

PR: Thank you very much as well, thank you.

About the author:

Pierrick has recently joined GSK Rare diseases where he oversees global market access, advocacy and communication for GSK Rare Diseases portfolio. Pierrick has held a series of roles of increasing responsibility within the GSK Vaccines business including Head of the Strep / Neisseria Franchise, and Commercial Head, Japan /Asia Pacific.

Dual education in International Business &amp, Economy (MBA IMD Lausanne, MA international Economy Paris Dauphine University) and Languages (BA Japanese Language Paris Sorbonne oriental language university), Pierrick has an extensive integrated international market access and general management experience in the Pharmaceutical industry across countries.

Pierrick will be speaking at the upcoming Orphan Drugs Summit 2011.

How do we achieve equality for patients with rare diseases?