Families Demand Access to Clinical Trials for Rare Disease Treatments

The challenges faced by families of children with rare diseases are profound, particularly when it comes to accessing clinical trials. Theron (Ted) Odlaug, a healthcare leader and advocate, highlights these issues through his personal experience with his granddaughter, Anna, who suffers from Dravet syndrome. This severe form of childhood epilepsy, primarily caused by mutations in the SCN1A gene, has left Anna enduring hundreds of seizures despite being on multiple anti-seizure medications.

For families like Odlaug’s, hope often comes in the form of clinical trials. These trials can offer the promise of new therapies, yet they are frequently designed with strict eligibility criteria that exclude many potential participants. Anna’s case illustrates the painful reality faced by numerous families, as they navigate the difficult balance between standard care and the uncertain benefits of experimental treatments. Odlaug’s deep involvement in this arena has transformed him from a concerned grandfather to an informed advocate, tirelessly seeking greater access to investigational therapies.

Barriers to Accessing Promising Treatments

Despite recent advancements and several FDA-approved therapies, many children with Dravet syndrome continue to suffer from frequent seizures and significant developmental disabilities. Investigational therapies show promise, yet access remains limited for many patients. Often, children like Anna are excluded from trials due to criteria such as age or current medications.

The U.S. has established pathways for expanded access, commonly referred to as compassionate use. Contrary to popular belief, the FDA is not typically the barrier; it approves over 99% of expanded access requests swiftly. The obstacles often lie with the drug companies themselves, which may deny these requests due to concerns over ongoing trials, potential risks to regulatory approval, or limited manufacturing capabilities.

Odlaug’s experience exemplifies this paradox. Efforts to transition Anna off her current medication to qualify for Stoke Therapeutics’ EMPEROR gene therapy trial failed, as her condition worsened. Consequently, she remains ineligible for the trial, and the company has not supported compassionate use requests.

Rethinking Compassionate Use Policies

Children who have exhausted all approved therapies may respond positively to investigational treatments such as antisense oligonucleotides or gene therapies, now progressing through clinical trials. However, many face exclusion due to arbitrary age limits or previous medication use. Families often feel compelled to wait for another trial or a new treatment, a situation that can have dire consequences for children with severe neurodevelopmental disorders.

Odlaug argues for a reevaluation of the current framework surrounding compassionate use. While mandating access may not be feasible and could hinder innovation, well-designed incentives could encourage a more compassionate approach from drug developers. Suggestions include creating incentives that do not compromise FDA standards or compel companies against their interests but rather foster a culture where compassion and innovation can coexist.

Trust is paramount in rare disease drug development. Families witnessing investigational therapies that are unavailable due to strict eligibility criteria may feel disillusioned. Advocating for compassionate use is not an attack on scientific integrity. Instead, it is about ensuring that ethical leadership encompasses responsibility for those who fall outside conventional trial designs.

Dravet syndrome is just one example of the challenges faced by many rare pediatric diseases. As Odlaug emphasizes, if the healthcare community genuinely prioritizes patients, it must create a system where hope is not restricted by rigid inclusion criteria. The ongoing dialogue around compassionate use is vital to ensure that the most vulnerable patients do not remain on the sidelines of medical innovation.