Advancing Rare Disease Trials: Innovation, Partnerships and a Patient Focus

The landscape of rare disease clinical trials has seen significant transformation over the past decade. However, many challenges remain in ensuring patient access, optimizing trial design and leveraging technological advancements to improve outcomes.

In a recent interview, Anthea Cherednichenko, MPH, MBA, Vice President, Hematology Franchise Head at Takeda, shared insights with Xtalks into the evolving clinical trial environment, the role of technology and the importance of partnerships in advancing rare disease research, particularly in blood and bleeding disorders.

XTALKS CLINICAL EDGE: Issue 4 — Rare Disease Trials with Takeda’s VP, US Hematology and Transplant Franchise Head Anthea Cherednichenko

Xtalks Clinical Edge is a magazine for clinical research professionals and all who want to be informed about the latest trends and happenings in clinical trials. This magazine immerses you in a world where industry leaders, patient advocates and top researchers converge to provide the most insightful perspectives on clinical trials.

Cell and Gene Therapies: Transformations and Challenges

One of the most exciting developments in rare diseases has been the emergence of cell and gene therapies, particularly in hemophilia, says Cherednichenko.

However, the introduction of the therapies has also highlighted the gaps in healthcare infrastructures, especially regarding regulatory frameworks, access and reimbursement models.

While cell and gene therapies hold the promise of life-changing, one-time treatments, they also present significant challenges for healthcare systems, including high costs, limited access and the need for specialized infrastructure to administer them effectively.

“The challenge with gene therapy is that our healthcare systems in the US and globally are not set up for expensive, lifelong medicines like this,” Cherednichenko explains. “I’m concerned that patients won’t have the access they should have because of the barriers that exist.”

Leveraging AI and Technology to Overcome Clinical Trial Barriers

Conducting clinical trials for rare diseases presents unique obstacles, from identifying eligible patients to ensuring diversity and accessibility. To help address some of these trial challenges, companies are turning to artificial intelligence (AI) and digital technologies.

AI and technology can open up new possibilities by reshaping traditional approaches, enhancing connections between trial sites and investigators, along with more effectively identifying the right patients for trials.

Leveraging these technologies can enhance patient engagement in clinical trials, particularly for small, niche populations that are difficult to reach and may face complex eligibility criteria across various program types.

As such, technology can play a significant role in improving patient recruitment and retention, particularly for rare disease trials that often struggle with small patient populations.

Improving diversity in clinical trials has become a key priority in recent years. Engaging with communities, partnering with patient organizations and collaborating with rare disease experts are some intentional strategies that can help ensure more diverse trial populations.

Real-World Evidence in Rare Disease Research

Incorporating real-world evidence (RWE) into clinical trial strategies is becoming increasingly important as well. By utilizing patient registries and real-world data sources, traditional clinical trial data can be supplemented and challenges in small-population studies can be addressed.

The key is to understand the patient population, along with challenges and limitations, early in the trial design process.

Establishing a strong foundation from the start is crucial, including a deep understanding of the patient population and close collaboration with partners to develop robust RWE packages.

In bleeding disorders, registries, for example, have been a valuable, rich source of data that have even supported Takeda’s regulatory filings and approval processes, Cherednichenko shares.

Since obtaining large datasets for rare diseases is inherently challenging, regulators often seek more information to support their decisions.

Patient registries offer an ideal solution, but patient advocates, foundations and advocacy groups also maintain valuable data resources. If effectively leveraged, these sources can provide rich, meaningful data to support regulatory decision-making.

Partnerships as a Key Driver in Rare Disease Research

Collaboration across the R&D spectrum is essential in today’s clinical trial landscape. Engaging with academic institutions, patient advocacy groups and industry partners brings together diverse skillsets and expertise, helping to drive greater efficiency and innovation.

“We want to make sure we’ve got the best and brightest minds in the room,” Cherednichenko says. “While we have deep expertise, we can’t know everything.”

Partnering with academic institutions, patient organizations and even smaller biotech companies allows companies to maximize the potential of promising assets and bring them to as many patients as possible.

Working closely with the community in rare disease trials is part of enhancing trial diversity, which is why Cherednichenko says listening to patient voices is key.

“We want to make sure that the patient voice is part of our clinical trials, so that when we bring a product to market, we are representing the needs of the community, which is particularly needed in rare diseases.”

While Takeda believes in developing its science in-house, it also partners with both big and small players in the field to leverage “external science.”

Over the past six to 12 months, Takeda has struck a number of partnerships, including with startups and smaller companies with promising assets.

Conversely, these companies also recognize the value in partnering with Takeda, particularly for its patient-centered approach and expertise in rare diseases, says Cherednichenko.

“They choose to partner with us, we choose to partner with them,” she says. “We love maximizing how we bring an asset to as many patients as possible, which I think is one of Takeda’s strong capabilities, particularly in the rare disease space.”

A Global Footprint in Clinical Trials

With a presence in multiple regions, Takeda is well-positioned to lead multicenter trials and engage with healthcare communities worldwide.

“What that bestows on us is access to the community — access to the experts, the physicians and a strong reputation,” Cherednichenko notes. “Physicians’ time is precious, and they want to engage in meaningful work and meaningful innovation.”

As a company that is over 240 years old and with a robust global footprint, she says Takeda can build critical relationships based on credibility and trust.

The landscape of rare disease clinical trials is evolving rapidly, driven by advancements in technology, strategic partnerships and a growing emphasis on patient-centric approaches. Ensuring diversity, engaging with patient communities and building strong foundational trial designs remain critical to the success of trial programs.

As the industry continues to innovate, collaboration across stakeholders — including regulators, advocacy groups and research institutions — will be essential in accelerating the development of life-changing treatments for patients with rare diseases.