Watch FDA's Patient Listening Session on Early Enrollment into Gene Therapy Trials for Rare Diseases

On Dec. 4, 2024, the FDA’s Center for Biologics Evaluation and Research (CBER) hosted a Patient Listening Session to hear perspectives of patients and caregivers on early enrollment in cell and gene therapy (CGT) clinical trials. These insights reflect the hopes, challenges, and realities of pursuing life-changing therapies while exploring options to preserve quality of life for those with a rare condition.  

Early Enrollment Matters 

Time is not something individuals with a rare disease take for granted. As Dr. Peter Marks emphasized during the session, “administering a gene therapy before the onset of symptoms can prevent further decline, which can sometimes be irreversible.” This sentiment resonated among attendees who shared their battles against the ticking clock of disease progression. 

• Prevention Over Repair: Parents of children with conditions like limb-girdle muscular dystrophy (LGMD) and Leber congenital amaurosis (LCA) stressed the importance of preserving function rather than attempting to regain it. Data shared on Duchenne muscular dystrophy (DMD) showed that earlier treatment leads to better developmental outcomes, further emphasizing this need.  

• High Stakes of Delay: The parent of a child with LGMD2i, noted that “time equals loss of muscle and independence that can never be regained.” These delays are not only days on the calendar but are missed opportunities for a better quality of life. 

Transparency with Informed Consent 

Participants highlighted the necessity for clear, ongoing communication throughout clinical trial participation. Informed consent should be a rolling process, ensuring patients and caregivers are fully aware of risks, benefits, and long-term expectations. Key questions from participants during the session surrounded future eligibility after other treatments, the systems in place to manage participant burden, and the potential lasting implications of gene therapy.  

Participants urged sponsors to be upfront about these considerations, helping families make truly informed decisions. 

Balancing Hope with Need 

The emotional toll on families navigating rare diseases was palpable. Parents shared their willingness to take on significant burdens, such as extensive travel for treatments, with the hope of securing a chance to better their child’s health.  

• Severity: Families emphasized that the decision to enroll depends on the severity of the condition. While some saw CGT as an opportunity for preservation, others viewed it as a last chance against advancing decline. 

• Parents’ Hopes: “If I could rewind the clock, I would 100% enroll him in a clinical trial knowing he would have had the best chance toward normal development,” shared a parent of a child with Phelan-McDermid syndrome, reflecting the sentiment of many. 

Adult Enrollment 

Adults with rare diseases also expressed optimism about gene therapy, especially those who have experienced the burdens of extensive medication regimens. 

• Risk Tolerance: Many adults demonstrated a high willingness to accept risks, recognizing CGT’s potential to reduce current disease burden. 

• Pre-Symptomatic Participation: A participant with Huntington’s disease noted that they would participate in a gene therapy trial, even with risks such as the onset of cancer, to avoid the progressive loss associated with a condition such as Huntington’s that “chips away at a person.” 

The FDA’s Patient Listening Session offered a necessary platform for those affected by rare diseases to voice their perspectives. These stories highlight the impact of early intervention, the importance of transparency, and the urgent need for ongoing innovation in clinical trial design. As gene therapy continues to evolve, these insights aim to guide a more patient-centered approach to ensure better outcomes for those affected.  

Listen to the full session recording here. For more timely education and engaging discussions on cell and gene therapies, register for ASGCTs upcoming summit, Empowering Patients 2025 and subscribe to the bi-monthly newsletter, The Patient Press. 

Ali is ASGCT's Senior Outreach Manager and Alexis is Manager of Advocacy Programs.

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