Building the Next Generation of Great Rare Disease Companies

Feb 22, 2016

Guest post by Paul Bolno, CEO of WAVE Life Sciences, a genetic medicine company focused on developing stereopure nucleic acid therapies for rare neuromuscular and CNS disorders.

As we gear up for Rare Disease Day 2016 – February 29th – it’s a great opportunity to reflect on what obstacles our industry’s rare disease trailblazers had to navigate. Their access to fundamental knowledge about the underlying mechanisms of genetic diseases was limited – and limiting. They had to establish an entirely new business model to build sustainable companies focused on treating small patient populations. They also had to pioneer a different kind of relationship with the advocacy communities, putting structures in place to help enable clinical trial recruitment and patient natural history studies, in addition to fostering supportive, lifelong interactions.

Fast forward to the present. The biotech and the rare disease communities have changed dramatically. Our understanding of many diseases has grown exponentially. It's now expected that a rare disease biotech company can have an enormous impact for patients while being a commercially viable entity. Regulatory policies have been put in place to facilitate research for rare diseases. Many admirable initiatives between industry and advocacy have been established. Most importantly, the healthcare world’s awareness of and energy for rare diseases have never been higher.

Today’s emerging rare disease companies have the benefit of building on this solid foundation; however there still remains much work to be done as we continue to address new and lingering challenges.

At WAVE Life Sciences, three areas we believe are critical to consider include: advancing choice for rare disease patients; addressing multiple diseases and smaller patient populations through platform approaches; and infusing patient engagement in all aspects of the business.

It’s amazing that we’re on the threshold of providing not just first-in-class therapies for certain rare diseases, but best-in-class therapeutic choices. Though rare disease patients have historically had limited options, they need – and have a right – to treatment choices. To that end, we need to ensure that we have regulatory, IP, reimbursement, and clinical development infrastructures in place that are conducive to and fostering of options and choice. 

As we look to provide choices for certain rare diseases, there still remains a veritable dearth of innovation and focus for an overwhelming number of the ~7,000 known rare diseases. Acceleration of rare disease drug development rests, in part, with pursuing platform technology approaches that have applicability across various diseases. This approach may help to ensure that patients with extremely rare diseases or rare mutations within a disease population – even patients who are an n of 1 – can have access to valuable targeted treatment options.

At WAVE, we have developed a platform that allows us to precisely control the design of nucleic acid therapies, which we believe will provide enhanced safety and efficacy for this promising class of therapeutics that have yet to reach their full potential to treat previously “undruggable” targets. WAVE’s progress in understanding the principles of optimization, we believe, will make it significantly faster to design potential best-in-class drugs for many diseases and patient subpopulations. We have already seen the fruits of this approach. Our pipeline is composed of more than 20 programs across multiple disease areas, the first two of which we anticipate filing INDs by the end of this year with four more by the end of 2018.

Lastly, it is critical for today’s rare disease companies to continually evolve advocacy and patient engagement models. While the rare disease companies of previous decades were some of the first to institute extensive patient advocacy programs, we now understand that patient communities have become increasingly integral partners and contribute valuable perspectives that can help guide a company’s strategic direction. The companies that succeed will incorporate patient advocacy as a business-critical function even earlier and with complete transparency.

The torch has been passed, and we are proud to be part of the next wave of companies dedicated to working with and on behalf of those affected by rare diseases. One in ten Americans is living with a rare disease, and the NIH estimates that 50% of those affected by rare diseases are children. We can change their future. May this Rare Disease Day inspire all of us to press on together, advancing new and better treatments – and hope – for all patients with rare diseases.

For more information, please visit and follow WAVE on Twitter and LinkedIn. This post contains forward-looking statements.

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