A sea-change in rare disease drug development


With the annual Rare Disease Day taking place tomorrow, Caroline Mathie and Dilip Phadnis give an overview of orphan drug development and consider how marketing strategies for these products need to change.

The focus on orphan drug development is continuing apace. Last year (2014) saw 11 new orphan drugs win CHMP approval, a spike in the approval rate compared with previous years. Worldwide, total orphan drug sales are forecast to total $176 billion1, almost double the rate of overall prescription market growth and are set to be 19.1 per cent of worldwide prescription sales by 2020.

The focus is leading to a change in the political relationship with orphan drugs. The previous attitude was one of 'fast track', 'open cheque book' and encouragement for the pharmaceutical industry. Now there is consideration about how governments can combine the ethical desire to treat rare diseases with the overall cost - a consideration that is particularly prevalent in Europe.

Much debate has focused on the overlap of personalised medicine and orphan drug development. For example, President Obama recently addressed the concept of precision medicine, which targets specific gene pathways, without requiring a scan of an individual's genome. The gene mutation will be targeted, in theory providing a cure without side effects.

Kalydeco is the perfect example of a precision orphan drug. It targets a specific gene mutation affecting less than 5 per cent of cystic fibrosis patients. It restores function to the patient, thus being more than a treatment and effectively a cure, albeit for just 3,500 patients worldwide.


"Many challenges remain for the industry in designing clinical trials, with relevant outcome measures, for the small and geographically dispersed patient populations"


Increasing numbers of pharmaceutical and biotech companies are targeting discovery and development of new orphan drugs, precision and otherwise, with some funding by venture capitalists. Many challenges remain for the industry in designing clinical trials, with relevant outcome measures, for the small and geographically dispersed patient populations. The low prevalence limits opportunities to perform multiple studies, whilst the heterogeneity of presentation and disease progression poses challenges to diagnosis, uniform treatment paradigms and study design. Meeting these challenges throughout the life cycle of an orphan disease brand now involves careful consideration of the roles of the:

- Patient/carer (and patient advocacy groups)

- Diagnosing and treating physicians

- Other stakeholders, including payers.

Patients and caregivers

Patients are increasingly forming advocacy groups and linking with one another via social media. No-one knows more about their disease than the patient or carer and they often approach manufacturers as soon as there is any hint of a potential product in development. This more dynamic communications environment offers opportunities to the industry in terms of identification of, and access to, these patients. Nevertheless, getting an orphan drug to patients post-launch is not easy. Diagnosis may be delayed and it may take several years before a patient receives the correct treatment.

The diagnosing and treating physicians

Physicians electing to become specialists in an orphan disease are often highly motivated and enjoy the kudos associated with their role. They have good relationships with their patients built on trust and experience. However, referral delay and the subsequent delay in delivering the correct treatment are frustrating to the patient, the specialist physician and the industry. The industry is moving to target and educate referring physicians to encourage earlier diagnosis and referral to the treating specialist, with varied success.

Payers and reimbursement

Last year the average orphan drug cost approximately $137,000 for a year's treatment for a patient (Pharmaceutical Commerce, October 2014). The increasing number of orphan drug approvals will add to the strain on payer budgets.

"Personalised and precision medicine could shake up orphan drug incentive schemes and restrict them to segmented populations for whom significant clinical benefit is demonstrated"


Indeed, there is some reason to believe that the growing trend towards personalised and precision medicine could shake up the orphan drug incentive schemes and restrict them to segmented patient populations for whom significant clinical benefit is demonstrated.

The power of the patient voice will continue to increase, particularly if it is believed that access is being restricted unfairly to some subgroups. This has already been shown by the demonstrations in the Netherlands where funding was due to be withdrawn for Fabry Disease drugs and the decision was subsequently reversed.

In designing successful orphan disease launches in the future it will be important for market research to inform not just on physician views but also on how to optimise patient engagement. In addition, how to combine the payers' views with the changing political pressures will need to be considered in order to accurately forecast the opportunity and maximisation strategy for each new asset.

This also brings with it an increasing need for brand-building communication strategies, rather than simply relying on a product's orphan drug status for success.


1 EvaluatePharma Orphan Drug Report 2014, from market intelligence firm Evaluate Ltd.

About the authors:

Caroline Mathie is head of the Orphan Disease Specialist Research Group at THE PLANNING SHOP international (TPSi) – a market research-based brand consultancy that she joined in 2010.

After studying Medical Bio-chemistry, Caroline spent 14 years at IMS Health, over 10 years as an independent, director-level consultant and four years as a director at J & D Associates.

Throughout her career, Caroline has had an active interest in orphan diseases and has expertise in a wide range of orphan disease conditions, including various lysosomal storage disorders.

Contact her on +44 (0)20 8231 6888 or at caroline.mathie@planningshopintl.com

Dilip Phadnis is head of Syndicated Studies at TPSi. Prior to joining TPSi he was director of Marketing Intelligence at Alliance Life Sciences and before that was director of Marketing Research at HRA Research.

He was the principal and founder of Rowin Group, a pharmaceutical marketing research and consulting company from 1989 to 2006.

Dilip holds a B.Pharm degree, an MS in Pharmacy and an MBA from Columbia University in New York.

Contact: Dilip.Phadnis@planningshopintl.com or Tel: +1 201 819 6097.

Rare Disease Day takes place on 28 February 2015. This year's theme is: Living with a rare disease.

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