We just completed Rare Disease month. With that in mind, Sue has asked me to step in for today’s e-conversation, as this topic is very much a part of my focus and professional experience.

A few weeks ago, I conducted a virtual discussion with an esteemed panel of seasoned executives and former Genzyme veterans: Jim Geraghty, Masako Nakamura, and Paula Soteropoulos. Tapping into the experience of those who trailblazed before us can help companies make a difference going forward!

Our focus was on three areas: the patient, the macroenvironment, and capital markets.

The discussion, hosted by Corval®, the innovative commercialization planning platform, provided a practical vision for how to move forward with our important work in rare diseases as the environment continues to shift. What follows are some of the key insights gleaned from this gathering.

(Click here to watch the entire discussion.)

#1. Rare Disease Continues to Be about the Patients

“At a company I led, our THIRD employee was head of patient advocacy. It was that important to make sure that we built the organization around the patient and understanding their perspective.”
— Paula Soteropoulos

Recently, The NemetzGroup consulted with a large pharma organization that acquired a rare disease company. In my opinion, the leaders did not (and still do not) fully appreciate that rare disease is unlike prevalent diseases. Their long-term investment rationale for the product does not support what should be done, and it may be detrimental to bringing a long-awaited therapy to patients.

Rare disease requires a different go-to-market approach. Usually, that translates into investing much earlier to find patients, build awareness, and educate the market on the disease and the potential therapy. That market education investment is at risk; not making it can impact the company’s ability to find patients for clinical trials and ultimately treat all patients in need. 

Patient needs and patient centricity are central to everything! This focus will support…

  • Global patient inclusion. Establishing global sites helps a company find the international community of patients and their healthcare providers. It also gleans valuable insights to improve trial designs.
  • Advocacy. Of the estimated 10k+ rare diseases (RareX), the majority do not have organized foundations. By leveraging objective, third-party organizations like Global Genes and NORD, grassroots efforts can organize, engage, and develop a unified voice for patients demanding attention.
  • Differentiation of treatment. Incorporating patient-reported outcomes can establish patient treatment benefits beyond the regulatory endpoint requirements.
  • Societal benefit. Demonstrating that treatment can augment living with a rare disease may empower the patients and impact the funding and policies of the system affecting their access to treatment.
  • Purpose alignment. Decisions made through the patient’s lens will support the company’s credibility and integrity.

#2. Effort Is Required to Educate Policy Makers and Legislators 

“It’s important that every stakeholder involved with the patient journey be aligned with the mission — including legislators, the pricing authorities, and market access. One team, one goal, one voice.”
— Masako Nakamura 

We are at an inflection point with amazing medical advances. These include gene editing, gene therapy, and other novel approaches, each of which can make a difference for an individual with a rare disease.

However, the rapidly changing macro-environment can dramatically impact the advancement of these new technologies. Our global and national economy is affected by government policy, legislation, market access (pricing and market reimbursement), increased public scrutiny on clinical design and outcomes, industry consolidation, telemedicine, and more. 

Engaging with policy influencers and leaders will support…

  • A seat at the policy table. We must be part of the conversations that shape the future environment for rare disease development and access.
  • A revised Orphan Designation Act. The original act, established in 1983, was right-sized for that time. Today, 40 years later, new incentives, definitions, and guidelines are necessary; millions of patients deserve a renewed focus.
  • Redesign of the newborn screening process. To flag risk early, provide robust testing, provide consistency from state to state (or country to country), and remove complexity. It can save lives and years of missed diagnoses. Recognition of its importance must be embraced by companies venturing to treat the 10K rare diseases.
  • Access to treatment. Extremely high pricing for rare disease treatments is not sustainable; change is required. Compromise among policymakers, payers, and manufacturers to ensure affordable access to available treatments is a shared responsibility.

#3. Financial Markets Boom and Bust — There Is Nuance in Successful Navigation 

“We work in a highly cyclical industry. I think more creative partnerships can be done to provide funding for programs that might otherwise be terminated. That combination of portfolio focus and rationalization, and use of non-dilutive strategic capital and expertise to fund those programs until the capital markets open up is the best way for companies to survive and stay strong until the investment cycle returns.”
— Jim Geraghty

We have heard the perspective in the news that the lack of capital will thwart innovation, the biotech boom has busted, and good science may not get the money required to advance technology.

Indeed, in our work with emerging single-asset biopharma companies, we have seen many of them slow investment and capability building in strategy, pipeline, and commercialization preparation and focus solely on clinical and preserving cash flow, making decisions on cost. 

Companies can traverse the murky market waters by…

  • Finding the private capital. While there are fewer IPOs and public funding mechanisms, private funding is available for companies with sound science and a focused effort on validating the biological hypothesis. Be fiscally responsible and fund what is required to achieve validation.
  • Leading efforts in a nascent disease. Explore rare diseases without any therapies. Be the trailblazing company to spearhead treatments for patients who have no options today. Establish the advocacy and the clinical experts and shape their future. Biopharma investors seek novelty. 
  • Seeking creative partnerships. Nonprofits, grants, and big pharma may have funding to invest creatively in sustaining a company and its mission to validate the science and demonstrate a benefit for patients. Seeking innovative financing through strategic partnerships may provide more than just financial returns in offering expertise, expanded capabilities, and resources.
  • Diversifying the portfolio. Ultra-rare-disease-focused companies do not seem to be a preferential investment thesis for today’s investors. Communicating a strategy that leverages the ultra-rare disease as a proof of concept for a broader opportunity based on the platform or target could be a viable strategic exercise.

Final Thoughts

  • While multiple factors are impacting the biopharma industry, opportunities still exist for tackling rare diseases with novel science that will provide value for a patient. The factors that shape advancement are not supportive of small, incremental change. They need impactful change that includes stakeholders, payer environment, and efficacy parameters. They seek disruption to the status quo. A little is no longer enough.

    The science and technologies grounded in data that support value for the rare disease patient will help set the guideposts for regulatory requirements and can also be leveraged to educate and drive awareness among the legislators, payers, and treaters.
  • Companies must pay close attention and ensure they have the stamina to invest in rare diseases before venturing down that pathway. It can be a powerful return on investment, but the commitment of time, talent, and resources is paramount to affect change for patients desperate for treatments. The financial climate constricting investment at this moment in time is only temporary, and novel science will eventually overcome today’s environment.
  • Pursuing a treatment that demonstrably addresses a significant need, is grounded by compelling data, and is developed by capable leaders willing to leverage lessons from past rare disease successes and failures to inform future financial and strategic decisions is the most productive path to the results we seek.

Above all, we must remember that patients are the only reason we are in business. Without an unmet medical need to solve, therapeutics would not be pursued. Companies entering the rare disease market must make a global commitment to support patients. Period!