Families grappling with rare diseases often find that hope lies not in cures, but in clinical trials. For those like Theron Odlaug, whose granddaughter Anna suffers from Dravet syndrome, the journey through healthcare can be both daunting and frustrating. Dravet syndrome, a severe childhood epilepsy typically caused by mutations in the SCN1A gene, has led to Anna experiencing hundreds of seizures despite being on multiple anti-seizure medications.
Odlaug’s experience highlights a significant challenge: even as new therapies emerge, many children remain ineligible for potentially life-saving treatments due to stringent clinical trial criteria. As a grandfather who has spent over 40 years in healthcare leadership, Odlaug has transitioned from family supporter to advocate, delving deep into the complexities of clinical trials and the pressing need for greater access to experimental therapies.
Clinical Trials and Exclusion Criteria
Despite recent advancements and several FDA-approved therapies for Dravet syndrome, many affected children still endure frequent seizures and severe developmental disabilities. Odlaug explains that investigational therapies hold the promise of significant improvement, yet access is limited. Many patients, including Anna, are excluded based on criteria like age or prior medication use.
“Patients with the greatest unmet need — those excluded from trials — are the least likely to gain access to promising therapies,” said Odlaug.
In the United States, the pathway for expanded access, often known as compassionate use, is well established. Contrary to common beliefs, the FDA typically approves over 99% of expanded-access requests quickly. The real barriers frequently lie with drug companies, which may decline requests due to concerns about potential risks to ongoing trials, adverse event complications, and limited resources, particularly in small or mid-sized biotech firms.
The Impact of Exclusion on Families
The case of Anna illustrates the challenges families face. Efforts to withdraw her from cenobamate to qualify for the EMPEROR gene therapy trial were unsuccessful due to increased seizure activity. Currently, the company developing the therapy is unwilling to provide compassionate use access, leaving Anna and others without viable options.
For children suffering from severe neurodevelopmental disorders, the consequences of waiting can be dire. Ongoing seizures can lead to cumulative and often irreversible developmental regression. Odlaug emphasizes that while mandating compassionate use may not be feasible, well-designed incentives could encourage drug sponsors to adopt more compassionate approaches without compromising innovation.
Potential solutions may include creating incentives through Congress and the FDA that would not lower approval standards but would promote a culture where compassion and innovation coexist. Building public trust is essential, as caregivers and advocates need confidence that investigational therapies will be accessible, especially for those who do not meet trial criteria.
Odlaug’s call to action is clear: if the healthcare system is to prioritize patient needs, it must evolve to ensure that hope is not limited by clinical trial designs. The challenges faced by families dealing with rare diseases like Dravet syndrome reflect a broader issue affecting many pediatric conditions. As Odlaug notes, ethical leadership in drug development must include responsibility to those left behind.
As conversations about rare disease access continue, the imperative to create a more inclusive system remains. The goal is to ensure that families like Odlaug’s do not have to navigate a landscape where life-saving therapies are within reach but remain out of grasp due to arbitrary exclusions.
