UCB leaders bridge the gap between rare disease approval and real-world access

For families living with lifelong, pediatric-onset rare diseases, receiving a regulatory approval for a new treatment is a monumental milestone—but as any caregiver or clinician will tell you, it is only the beginning of the journey. The transition from clinical breakthrough to real-world access is fraught with systemic hurdles, from fragmented care coordination to the daunting “cliff” of transitioning from pediatric to adult health care.

In this discussion with Contemporary Pediatrics, Brad Chapman and Kimberly Moran, PhD, MBA, heads of US Epilepsy and Rare Syndromes and US Rare Disease, respectively, at UCB, discuss what it truly takes to build a sustainable care ecosystem. They explore the critical role of genetic testing in ultrarare conditions such as thymidine kinase 2 deficiency (TK2d), the emotional and clinical necessity of caregiver support in CDKL5 deficiency disorder, and why UCB is betting on “ecosystem-level” investments to ensure that a life managing a rare disease is never defined by it.

Contemporary Pediatrics:

You’ve noted that regulatory approval is only part of the journey. In lifelong, pediatric-onset rare diseases, where do care transitions most often break down, and how can health systems better support real-world access?

Brad Chapman:

That’s a great question, and honestly, it gets to the heart of what families living with rare epilepsies face every day. Regulatory approval is important…but for families living with lifelong, pediatric-onset rare diseases, it’s really just the beginning. One of the biggest places where care breaks down is when patients transition from pediatric to adult care. That moment can be incredibly disruptive. Suddenly, care becomes fragmented, systems don’t always talk to each other, and too often, families are left to hold everything together themselves.

And when you’re talking about conditions like Dravet syndrome or Lennox-Gastaut syndrome, the stakes couldn’t be higher. Seizures are only part of the picture. Families are also managing developmental and behavioral challenges, sleep issues, and serious risks like SUDEP [sudden unexpected death in epilepsy]. These challenges affect every aspect of life—and no family should have to navigate that alone.

Rare epilepsy is complex. It takes a coordinated team—neurologists, primary care providers, behavioral specialists, educators, and social supports—all working together. When that coordination isn’t there, families feel it immediately. So, improving real-world access really means breaking down barriers, strengthening care coordination, and making sure families are connected to the right resources at the right time—both inside and outside the clinic.

At UCB, we strongly believe that collaboration is the only way forward. We work closely with health care professionals, patients, caregivers, and advocacy organizations to help build stronger transition programs, clearer pathways, and more connected systems of care that truly surround families with support.

A good example is our CARE Binder, which we developed with partners like the DS Foundation, the LGS Foundation, and the TSC Alliance. It’s designed to help families think long-term and prepare for adult care. Programs like UCBCares and ONWARD are also focused on providing practical, comprehensive support—so families can focus on living their lives, not just managing their condition.

At the end of the day, our goal is simple: we don’t want a life managing seizures to become a life defined by seizures. By listening to families and learning from those who know these conditions best, we partner with the communities we serve to build a system where people feel supported, connected, and confident at every stage of their journey.

Contemporary Pediatrics:

With the first approved treatment for TK2d, what barriers in ultrarare diseases have become most apparent—particularly related to specialist access and care coordination?

Kimberly Moran, PhD, MBA:

Ultrarare diseases, by definition, affect very small populations, which often means patients and caregivers face long, winding diagnostic journeys. They may see multiple clinicians, and symptoms can be misunderstood or misattributed, delaying diagnosis and appropriate care. These delays are especially consequential in rapidly progressive conditions, where time is not a luxury patients have.

(TK2d) is one of those ultrarare conditions, and it is associated with high morbidity and mortality. As we worked to bring Kygevvi, the first approved treatment for TK2d, to the community, we had the opportunity to work closely with the mitochondrial disease and TK2d community — including advocacy groups, physicians, people living with TK2d, and their loved ones. Through these interactions, we gained important insights into the significant unmet needs they face.

One of the key barriers we’ve learned about is the critical importance of genetic testing. Diagnosing TK2d can be challenging due to variable symptoms that overlap with other conditions, such as muscular dystrophy, Pompe disease, spinal muscular atrophy, and others.

Genetic testing is the most direct path to diagnosing TK2d, but only certain genetic tests can definitively confirm a diagnosis of TK2d. For suspected TK2d, different genetic testing options are available, such as whole-genome sequencing, whole-exome sequencing, single-gene testing, and multigene panels that include the TK2 gene. An early, accurate diagnosis of TK2d is important to inform best supportive care for this population.

Creating lasting impact requires a sustained commitment to strengthening the infrastructure around patients, from early identification to referrals and multidisciplinary care coordination. By fostering greater understanding of TK2d, we aim to help ensure that patients not only gain access to treatment but also experience meaningful improvements in outcomes and quality of life.

Contemporary Pediatrics:

In CDKL5 deficiency disorder, UCB has paired therapeutic advances with community programs and caregiver tools. How do these ecosystem-level investments influence long-term treatment sustainability?

Chapman:

That’s a really important question, because it gets at something our teams think about every single day. When you’re talking about conditions like CDKL5 deficiency disorder, sustainability isn’t just about having an effective therapy. It’s about whether families can realistically stay engaged in care over the long term. And that depends on so much more than a prescription. It depends on how supported they feel, how informed they are, and whether they have the tools and community around them to keep going—especially on the hard days.

So, building a sustainable ecosystem for rare diseases requires more than just focusing on diagnosis. It involves supporting the whole person by viewing every aspect of care through the lens of patients' and caregivers' needs and experiences. At UCB, our commitment extends beyond delivering therapeutic solutions to empowering individuals through comprehensive support offerings, advocacy, education, community engagement, and technological advancements.

Community involvement and understanding the full patient and caregiver journey play a pivotal role in creating long-term support that addresses not only urgent medical needs but also long-term quality-of-life aspects, which can often be overlooked in traditional health care settings. The work we do each day, including our team’s incredible research on the impact of prolonged seizures on patient and caregiver quality of life, guides our insights.

Despite progress in epilepsy care, communication gaps with health care providers persist, underscoring the necessity of a patient-centered approach where active feedback and tailored treatment plans enhance quality of life. Our work is guided by these insights, ensuring our efforts address both the clinical and emotional needs of those affected, fostering sustainable and meaningful improvements in their lives.

Through these findings and our ongoing relationships with those impacted by epilepsy, we recognize that sustaining treatment is inseparable from caregiver well-being. Programs like My Mental Health Matters, in collaboration with advocacy partners, acknowledge the significant emotional strain rare epilepsy syndromes place on families. These initiatives aim to address mental health and family dynamics, which are integral to supporting sustainability. 

So, when we talk about ecosystem-level investments, this is what we mean. We’re investing in continuity, in connection, and in long-term infrastructure that helps families stay engaged and supported over years—not just months. Ultimately, by pairing therapeutic advances with purposeful ecosystem investments, we aim to strengthen continuity of care and reinforce the long-term infrastructure families need. Staying connected to the communities we serve who understand these conditions best guides our focus as we work together to create meaningful progress. 

Contemporary Pediatrics:

As much of the industry leans into digital navigation and artificial intelligence (AI), what does building a practical, real-world care ecosystem look like from your team’s perspective?

Moran:

We have to start with a simple principle: Technology should enable care, not complicate it. In ultrarare diseases especially, the ecosystem is often fragmented. Patients are navigating specialists, genetic testing, and multidisciplinary support, often across geographies. From our perspective, building a practical, real-world care ecosystem means integrating digital tools in ways that make those pathways clearer, faster, and more connected, whether that’s improving case identification, streamlining referrals, or supporting care coordination.

At the same time, technology alone is not the solution. It is critical to leverage firsthand understanding of the disease, collaborate closely with patients, and learn from their lived experiences. Those insights can then be translated into meaningful innovation.

A real-world ecosystem requires strong partnerships—among patients, academic centers, community providers, advocacy groups, and health systems —to ensure that insights translate into action. It means investing in education, so clinicians recognize patients earlier, supporting navigational resources that reduce burden on families, and designing solutions that reflect lived experience. AI and digital innovation can accelerate progress, but sustainable impact comes from combining those tools with human expertise and a long-term commitment to the patient journey.

Contemporary Pediatrics:

For clinicians managing rare pediatric neurologic conditions, what system-level changes are most critical to ensure durable treatment access after approval?

Chapman:

That’s another really great question, because durable access doesn’t happen by accident. It has to be built into the system from the start.

When you look at what families experience after a treatment is approved, one of the biggest challenges is that the health care system often isn’t designed to support the full, long-term journey. It’s built around individual appointments or moments of care, not around what it takes to manage a rare pediatric neurologic condition over many years. As a result, families run into gaps in coordination, education, and continuity—and they’re often the ones trying to bridge those gaps themselves. Unfortunately, the current system isn't fully aligned with the realities they face.

Some insights we have heard across multiple stakeholder groups that could make a difference at the system level include enhancing care coordination across multidisciplinary teams, implementing intentional transition planning for aging patients, and increasing education and awareness within clinical and community settings. Integrating patient and caregiver perspectives ensures that care models reflect real needs and effectively reduce barriers over time.

And as an ecosystem, when we get that right, something really powerful happens. Families stop feeling like they’re constantly fighting the system and start feeling supported by it. Care becomes more connected, more compassionate, and more sustainable.

At UCB, that’s what we’re ultimately working toward—pairing scientific innovation with real-world solutions that reflect how people actually live. By listening closely to patients, caregivers, and clinicians, and by staying deeply connected to the communities we serve, we can help build systems that don’t just deliver treatments but truly deliver hope, confidence, and long-term stability.

Because at the end of the day, this work isn’t just about medicines. It’s about people. And our responsibility is to walk alongside them—every step of the journey.