The Food and Drug Administration (FDA) convened a meeting with individuals affected by Huntington's disease (HD) and their caregivers on November 13, 2024, in College Park, Maryland. This Externally-led Patient Focused Drug Development (EL-PFDD) meeting, coordinated by the Huntington’s Disease Society of America (HDSA), provided a platform for the HD community to share their lived experiences and perspectives directly with the FDA, influencing future drug development and regulatory decisions.
Goals of the Meeting
The primary goals were to educate and advise the FDA and medical product developers on the challenges of living with HD and to advocate for disease-modifying drugs. Discussions covered the impact of HD at pre-symptomatic, early, and mid-stages, focusing on treatment outcomes preferred by the community and the risks they are willing to take to access effective therapies. The meeting also addressed challenges in current clinical trial participation and explored potential improvements.
Structure and Key Discussions
The meeting included opening remarks from key figures such as Dr. Arik Johnson, Interim CEO and Chief Mission Officer of HDSA, and Dr. Teresa Buracchio, Director of the Office of Neuroscience at the FDA's Center for Drug Evaluation and Research. A clinical overview of HD was presented by Dr. Victor Sung, Professor of Neurology at the University of Alabama. The day was divided into two panel discussions: one on health effects and daily impacts, and another on current approaches to treatment.
Health Effects and Daily Impacts
Panelists at different stages of HD, along with family members, shared personal stories highlighting the profound impact of the disease on their lives. Discussions covered a range of issues, including the decision to have biological children, early life insurance and retirement planning, and the challenges of caregiving. Speakers detailed cognitive changes, such as reduced problem-solving abilities and difficulties with multitasking, leading to job loss and reduced independence. Emotional changes, including depression, anxiety, and panic disorder, were also emphasized.
During the group discussion, participants identified cognitive and psychiatric symptoms as primary concerns, even in the pre-symptomatic stage. Those with early-stage HD expressed worries about becoming a burden to loved ones and the impact on their children. Individuals in mid-stage HD cited loss of independence and financial instability as major challenges, with good days defined by basic comforts like a good night's sleep and absence of urinary incontinence.
Current Approaches to Treatment
The second panel focused on current treatment approaches, with panelists sharing experiences with both pharmacological and non-pharmacological interventions. A key theme was the frustration of pre-symptomatic individuals who are ineligible for clinical trials despite experiencing noticeable changes. Panelists also discussed the psychological and physical toll of HD, the impact of halted clinical trials, and the need for better trial endpoints and increased funding for HD research.
Group discussions revealed that many pre-symptomatic individuals are taking medication for anxiety and depression, while caregivers often require similar medications. Those with early-stage HD prioritize exercise, music therapy, and intellectual challenges. Participants expressed a strong desire for medications that could improve cognitive function, enabling them to maintain employment and financial stability for longer.
The Path Forward
The FDA representative announced a virtual patient listening event on December 4th to gather further input on clinical trial enrollment at pre- and early-symptomatic stages. Closing remarks from Arik Johnson emphasized the ongoing work needed to ensure all voices are heard and that every lived experience with HD is valued in future decision-making. Participants were encouraged to engage in observational studies such as ENROLL-HD, POWER-HD, and MyHDStory.
The meeting underscored the critical need to reconsider the definition of “symptomatic” in HD, as many individuals experience behavioral and psychological changes long before motor symptoms manifest. The direct dialogue between the FDA and HD families highlighted the importance of understanding the community's needs to accelerate the development of effective treatments and improve the lives of those affected by HD.
