Rare Disease Drug Development & Commercialization Learnings, Opportunities & Debates at World Orphan Drug Congress USA 2022

The Kx team attended the World Orphan Drug Congress (WODC) in Boston, MA last week and came away energized from three days of sharing ideas, inspirational stories, and panel discussions. This event brings together the full range of stakeholders who drive and support orphan drug development, regulatory approval, treatment delivery, and patient/caregiver support services. Here we discuss a few themes we heard across meetings and presentations:

Capturing the full market potential for a new orphan drug is a challenge; diagnosis and treatment gaps add to the unmet needs a new treatment needs to address

Repeatedly, newly approved treatments for rare diseases with a strong clinical profile (i.e., safe and effective) have not achieved the degree of adoption forecasted pre-launch. Why? With humility, drug developers acknowledged their own shortcomings in not building a comprehensive ecosystem of care for target patients, their caregivers, HCPs, and payers.

Unfortunately, there is no universal go-to-market (GTM) playbook for launching a treatment in an orphan indication; however, key questions to ask when GTM planning in rare diseases in have become clear:

  • What is the daily reality and emotional state of patients and caregivers?
  • What breakpoints exist in the patient journey, and how can we address those?
  • How can barriers to delivery be mitigated through just-in-time delivery infrastructure and treatment sites creation for gene therapies?
  • How should value be measured (to ensure access and coverage continuation)?

The term “beyond the pill” is still a popular idea, but there is a need to define what that means for meeting the needs of different patient, HCP, and payer populations. By establishing trusting, longitudinal relationships with the patients, caregivers, and HCPs they strive to serve, drug developers are successfully building tailored, comprehensive GTM strategies today for the next wave of orphan drug launches, building the foundation for “beyond the pill” to be more than a catchphrase. 

Value differentiation is best achieved through focus on simple, straightforward clinical endpoints

For over a decade, rare disease treatments have seen greater flexibility from regulators on primary endpoint designations than treatments for more prevalent indications; however, we consistently heard that leniency in clinical trial design may fade. Until now, drug developers could drive endpoints selection based on early trial results and carry these through to regulatory approval reviews. As noted by Simone Boselli, Public Affairs Director, EURODIS, during one of the panel discussions, too often today these endpoints are abandoned post-approval given challenges with continued tracking in real-world settings.

Going forward, drug developers should pursue greater prospective consideration and engagement to ascertain how regulatory bodies (FDA, EMA, health technology assessment (HTA) bodies) expect data packages to be constructed. Emphasis will be placed on using clinical endpoints that are simple to compare across studies by competing developers and straightforward to extrapolate to functional benefits for patients, as well as feasible to continue to measure in the real world as drug developers aim to build a real-world evidence base. In the future, drug developers presenting unique (rather than universally accepted) clinical endpoints may run into delays or rejections, costing time, revenue, and patient access to novel treatments.

Rare disease patients desire true partnership, including greater influence over the risk tolerance decisions and transparency on drug development setbacks

Appropriately, keynote presentation sessions often included patient advocates such as Allyson Berent, COO, GeneTx*, who shared her experience from her daughter’s Angelman Syndrome (AS) diagnosis at 6 months old. When she realized there were no approved treatments for the condition, she dedicated her time and energy to pursuing an effective treatment, ultimately becoming the Chief Science Officer of Foundation for Angelman Syndrome and co-founder of GeneTx.

(*note: GeneTx was acquired by Ultragenyx on 7/19/22)

We at Kx Advisors applaud the dedication of individuals, such as Allyson Berent, who work relentlessly to bring innovative therapies to patients. Also, we are telling her story here because her asks to industry were echoed by others at WODC:

  • Further elevate patients’ voices and requests – creating an ecosystem of care requires early and frequent patient input 
  • Consider that the risk-reward tolerance when patients are desperate for a lifeline may be different than industry’s view; many felt patients should have more influence on the calculus 
  • Increase transparency of critical feedback from the FDA to drug developers when reviewing clinical results, as patients are central to progress and deserve transparency on both advancements and setbacks; this sharing rarely occurs today, and collectively holds back innovation for the sake of competitive advantage

 

How Kx Can Help

Do you want to discuss further our takeaways from the World Orphan Drug Conference? Does your organization need to address specific challenges in rare disease asset planning and launch strategy? If so, please contact Brett Larson brett.larson@kxadvisors.com or Jenna Riffell at jenna.riffell@kxadvisors.com.

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Q&A with Kx: Spotlight on AACC 2022

Q&A with Kx: Spotlight on AACC 2022

American Association for Clinical Chemistry (AACC)
2022 Annual Scientific Meeting & Clinical Lab Expo
July 24 -28, 2022
McCormick Place Convention Center
Chicago, Illinois USA

Before they head off to the Windy City for this year’s AACC Annual Scientific Meeting & Clinical Lab Expo, we asked Bob Serrano and Brian McNally for their insights on what they hope to learn, see, and are excited to discover at this year’s conference!

Q: What takes life science growth strategy consultants to the American Association for Clinical Chemistry Annual Meeting?

Bob: At Kx Advisors, we focus on partnering with life sciences clients to deliver actionable insights that fuel growth. Clinical diagnostics has always been a market with technical innovations, but now more than two years since the start of the COVID-19 pandemic, we see significant investments being made. Those investments are in a market where patients demand greater value from testing. Models that decentralize molecular diagnostics right into our homes or adding genome sequencing to doctor’s visits, are both examples of those new models. Conferences like AACC are a great venue for us to listen to various perspectives and share our own insights.

Brian: As a former bench scientist, I find myself drawn to new products and technologies. After all, new gadgets in clinical diagnostics hold the promise of a healthier future for all of us. With almost 300 new exhibitors since 2019, I’m excited to see the future of diagnostics in the lab and at home. So, you can expect to find me talking to exhibitors about their new study results and how they expect it will bring greater value to labs.

 

Q: What do you expect to be the hot topics in laboratory medicine?

Brian: While COVID testing is here to stay given the endemic-like nature of SARS-CoV-2, we see three outcomes of the pandemic impacting the labs. First, pandemic preparedness. We see this being tested with the spread of new SARS-CoV-2 variants as well as monkeypox. Second, advances in characterizing host-pathogen interactions, brings a new dimension to supporting clinical practice from diagnosis through treatment. Lastly, we expect labs will be sharing their perspectives on how to support patients with post-COVID syndromes.

Bob: I expect a hot topic for attendees will be what the inclusion of Verifying Accurate Leading-edge Development (VALID) into the Medical Device User Fee Amendments (MDUFA) will mean for innovation. VALID establishes a risk-based framework for in vitro clinical test (IVCT) regulation, which would give the FDA authority over LDTs (laboratory-developed tests). AACC has asked its membership to oppose VALID’s inclusion, while the industry group AdvaMed has endorsed VALID. So, while VALID’s language is not yet finalized, and there is a proposed five-year phase-in, we still expect to hear a lot from the Expo attendees on how VALID is going to impact them. Specifically, how will a risk-based regulatory structure be applied to new testing models that are less hypothesis-driven, and more proactive?

 

Q: What technologies do you see making headlines on the Expo floor?

Bob: While the headlines might be from earlier this year, the news surrounding decreasing costs of next generation sequencing will resonate with clinical laboratories. Costs are a key barrier to the recent push we see for comprehensive genomic profiling (CGP). At this past month’s American Society of Clinical Oncology meeting, Illumina hosted a networking event where a panel of clinicians shared case studies where CGP was transformational for the patient. The panelists went on to describe reimbursement as a barrier to adoption; so obviously, if costs keep decreasing, we could see CGP’s growth accelerate.

Brian: AACC does a fantastic job of providing some built-in technology headlines with the Disruptive Technology award. This year, there are three finalists who we expect will be getting a lot of attention moving forward. First, the Verita™ lab-on-a-chip platform by Biological Dynamics offers a nanoparticle-based isolation solution for streamlined multi-omic testing. This type of platform technology should garner broad appeal with biomarker discovery groups as well as assay developers. Next, Nanopath has focused their attention on women’s infectious diseases and looks to use their expertise in nanotechnology to offer a compelling physician office testing platform. Lastly, Visby Medical has launched a palm-size PCR testing platform for COVID and sexually transmitted infections. All these finalists are great representatives for the trends we have seen coming in the molecular diagnostic space, so now we need to find what’s next.

 

Q: What do you expect to share with your clients when you get back from the Meeting & Expo?

Brian: With COVID bringing diagnostic testing into our homes, we have all participated in the adoption of decentralized diagnostic testing. Now we are looking at the next wave of patient-focused testing, both in the home as well as distributed throughout the healthcare setting. The innovations we see coming are not only from the test technology, i.e., how fast can PCR be done, but how the tests fit into these new environments, and how they communicate with the broader healthcare system.

Bob: An event like AACC is a great way to share perspectives and gather experiences firsthand from the clinical laboratory. The insights I expect to share with our clients will then be focused on how laboratories are going to deliver value to patients. As an example, how can labs deliver greater clinical insights in a post-VALID environment? And what impact will greater competition in the genomics space have? So, we look forward to hearing perspective of the labs, the diagnostic developers and partnering with them to help identify the best way to help patients and clinicians.

 

Q: Last question for you both, Deep Dish Pizza or Chicago Dog?

Brian: Chicago Dogs for me. No way to pass up all those toppings.

Bob: Deep Dish all the way! More specifically, Deep Dish from Pizzeria Due, the original chain restaurant of Pizzeria Uno. This is the true pride and soul of Chicago. 🍕

 

How Kx Can Help

Discuss more on the latest developments in diagnostics and life sciences (or the great pizza vs. hot dog debate of 2022), join us in Chicago for AACC Annual Scientific Meeting & Clinical Lab Expo.  Contact Bob Serrano bob.serrano@kxadvisors.com or Brian McNally, PhD brian.mcnally@kxadvisors.com

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