By: Joanne Taylor, PhDApproximately 7,000 rare diseases affect more than 300 million people worldwide, or around 5-8% of the population, depending on the market. The number of patients diagnosed with individual rare diseases varies enormously: One disease may affect only a handful of patients while others affect hundreds of thousands. Eighty percent of rare diseases have an identified genetic origin and half affect children. Approximately 30% of those children do not reach their fifth birthdays, making the need to find a treatment particularly urgent.

Diagnosing a rare disease, however, can be very difficult. The sheer number of diseases is overwhelming; symptoms can vary across patients suffering from the same condition; and, due to the rarity, most physicians are unlikely to have come across the condition previously. Patients are therefore often misdiagnosed and correct diagnosis can take several years.

Most rare diseases have no effective treatment. Increased awareness, largely driven by patient organizations who have also had a significant impact on reimbursement and access, has led to regulatory and pricing incentives that are motivating pharmaceutical companies to start investing more heavily in an area which has, to date, been dominated by biotech. Several challenges, however, remain that are associated with developing rare disease treatments in addition to the low numbers of patients:

  • Although the unmet medical need is huge, investment is inherently risky due to the lack of well-defined developmental, regulatory and reimbursement pathways
  • Competition can be steep for small numbers of patients
  • The limited number of expert academic centers can make patient travel difficult and expensive
  • Strategies employed by first-to-market companies trying to protect their investment, e.g., expanded access programs, named patient programs and observational studies, can impede access to patients, and trial sites are often loyal to innovators
  • Approvals are often faster, easier and cheaper (through Orphan Drug Designation), but reimbursement has many hurdles and uptake can be low, even for treatments that are technically reimbursed
  • High price tags can offset low patient numbers, but higher costs have attracted negative publicity in the past. Payers and other stakeholders are concerned that, as more rare disease treatments become available, the costs to the healthcare system will become unsustainable

Prescient has worked with clients to address numerous considerations before they decided to invest in licensing and/or developing a treatment for a rare disease.

At the disease level:

  • Is the disease mechanism well understood?
  • What is the unmet medical need?
  • Can patients be identified, and can they be accessed?
  • How strong is the competition?
  • How have developers and manufacturers of other brands for this disease succeeded or failed? What can be learned? Have first-to-market companies blazed a trail that follow-on companies can exploit, develop or improve upon in terms of regulatory pathways and payer behaviors?
  • How is the future landscape likely to be affected by scientific and clinical advances as well as market activity?

At the asset level:

  • What is the size of the treatable patient population?
  • Is the MoA well understood?
  • Does it have, or is it likely to receive, orphan drug designation?
  • What is the likelihood of technical success?
  • What is the quality of the scientific and clinical data to date?
  • Are there any potential safety concerns?
  • Are the unique needs of patients, caregivers, physicians and payers likely to be met?
  • Does the asset have potential in other diseases, rare or otherwise?

At the company level:

  • How does an asset fit within the existing portfolio, including for non-rare diseases?
  • For in-licensing opportunities, what is the attractiveness of the potential partner company? Does it have a history of successful partnerships with pharma or biotech companies?

Regulatory incentives and high pricing have encouraged some pharmaceutical companies to develop rare disease portfolios. Payer hurdles and competition for limited numbers of patients, however, are disincentives to entering the rare diseases market. Applying carefully considered criteria when choosing which assets to include in a portfolio can maximize the chances of success.