Families of children with rare diseases often find hope in clinical trials, yet many face significant barriers to access. This is the reality for those affected by conditions like Dravet syndrome, a severe epilepsy primarily caused by mutations in the SCN1A gene. For families like that of Theron Odlaug’s granddaughter, Anna, clinical trials can feel both promising and exclusionary.
Anna suffers from Dravet syndrome, enduring hundreds of seizures despite being prescribed multiple anti-seizure medications approved by the Food and Drug Administration (FDA). As her condition deteriorates, her parents face the difficult decision between standard treatments and the potential risks of unapproved therapies. This personal journey has compelled Odlaug, who has over 40 years of experience in health care leadership, to advocate for better access to investigational treatments for patients like Anna.
In his quest for answers, Odlaug has immersed himself in the complexities of clinical trial design and the regulatory landscape. He emphasizes a troubling reality: even when innovative therapies are available and the FDA supports expanded access, many patients remain unable to participate in trials due to strict eligibility criteria. This issue is particularly acute for children with Dravet syndrome, who often cannot meet the requirements set by trial protocols, including age limits or current medication usage.
Despite the FDA’s efficiency in approving over 99% of expanded-access requests, the responsibility largely falls to drug companies. These firms frequently decline compassionate use requests due to legitimate business concerns, including potential risks to ongoing clinical trials and limited manufacturing capabilities. Such decisions, while rational from a corporate standpoint, result in a paradox where patients with the greatest need are often left without options.
Odlaug illustrates this challenge with Anna’s recent experience. Attempts to discontinue her medication, cenobamate, to qualify for Stoke Therapeutics’ EMPEROR gene therapy trial were unsuccessful due to increased seizure activity. Consequently, the company’s refusal to grant compassionate use access has left Anna without the possibility of benefiting from promising investigational therapies.
The urgency of this issue cannot be overstated. Children with severe neurodevelopmental disorders like Dravet syndrome require timely interventions, as ongoing seizures can lead to irreversible developmental regression. Unfortunately, families are often advised to wait for the next trial or treatment approval, which can feel like a cruel game of chance.
Odlaug argues that while mandating compassionate use may not be feasible, creating incentives for pharmaceutical companies could foster a more compassionate approach to rare disease treatment. These could include policy measures by Congress and the FDA that encourage companies to embrace compassionate use without compromising their interests or the integrity of clinical trials.
Trust is paramount in the delicate ecosystem of rare disease drug development. Caregivers, clinicians, and advocates must feel assured that their participation in trials will lead to meaningful advancements. When patients are excluded based on rigid criteria, that trust diminishes, creating a divide between innovation and access.
In the case of Dravet syndrome, this dilemma is not unique. It reflects a broader challenge faced by many families dealing with rare pediatric diseases. Odlaug’s call to action is clear: the healthcare system must evolve to ensure that hope is not limited by clinical trial criteria, enabling companies to act compassionately while still pursuing innovation.
Ultimately, the responsibility lies with all stakeholders in the healthcare community to create a system that prioritizes patient needs. As Odlaug concludes, if we truly believe in putting patients first, we must work towards a framework where access to hope is not dictated by arbitrary inclusion criteria.
