Nov. 2, 2020
Posted by Debbie Drell
One of the most important gatherings of the Krabbe disease community occurred in collaboration with the US Food and Drug Administration (FDA) on October 29, and it was 100% virtual with live, interactive components. FDA regulators, academic researchers and industry drug developers came together with Krabbe disease patients, caregivers and advocates for an inside look into the unvarnished reality of people living with this type of leukodystrophy. The four–hour externally-led Patient-Focused Drug Development (EL-PFDD) meeting on Krabbe disease was marked by tear-filled testimonials from parents who shared about the pain of watching the ravaging course of the disease on their children and ultimately, the loss that is far too common in this community.
The goals of the meeting were to provide a robust understanding of how individuals with Krabbe disease view their quality of life, which aspects of the disease are most problematic for them, and what actions they currently perform to treat and cope with this disease. A dozen caregivers and patients shared emotionally compelling stories of how the disease has wreaked havoc on their jobs, sleep, psychological health, marriages, family structure and relationships with their children diagnosed with this disease.
The audience also heard directly from patients who recounted their painful, unpredictable daily struggles with the disease’s widespread symptoms, including Jhyrve Sears, who spoke about the disease burden and how it often affects her daily life. “On bad days, I can sleep up to 22 hours a day. On those days I cannot put my thoughts together, I have no balance, and I am in a lot of pain. I struggle to function.”
In an honest and courageous speech, Natasha Spencer spoke about the devastating interpersonal impact of the disease, as she was forced to focus on acting as her son’s doctor, nurse, therapist, social worker and case manager, and less on being his mom. “Kenan’s been gone for two and a half years now and without him here, my greatest sadness is knowing and understanding more about Krabbe disease than I ever did about him.”
The second half of the meeting focused on patient and caregiver experiences around treatments, clinical trials and the community’s barriers to participating in trials. A significant learning of this meeting was gleaned from live polling: of all the factors in decision-making around choice of medications, the community overwhelmingly trusts their physician on decision–making around treatments. One Krabbe mom, Christin Webb, shared in her testimony, “Dr. Kurtzberg presented us with the opportunity to enter into a clinical trial and [Owen] would be the second in the world and first with Krabbe to partake. The unknowns, made us a little uneasy, but as she explained more in depth the purpose of this therapy, we saw no reason not to participate.”
This event was the result of nearly a year of planning and development as NORD worked with a passionate group of Krabbe nonprofit organizations including KrabbeConnect, The Legacy of Angels Foundation, Partners for Krabbe Research and Hunter’s Hope, with additional support from Gain Therapeutics, Magenta Therapeutics, Neurogene and PassageBio. NORD coordinated the meeting planning with the patient groups and key administrators at FDA. NORD has a long-standing history of collaboration with FDA, coordinating dozens of listening sessions and last year, hosting an in-person EL-PFDD for pyruvate kinase deficiency. In our experience, the in-person format of these events attracts around 100-120 people; in contrast, the virtual EL-PFDD meeting attracted 238 registrations, including many people who had to make last-minute decisions on whether they would attend the meeting live or access the archived content later, because of the unpredictability of the flare–ups and symptoms of this disease.
EL-PFDD meetings are a way for FDA to hear from disease communities and for people affected by complex medical conditions to share critical information about the impact of the disease on their daily lives, their experiences with currently available treatments, history and preferences with clinical trials, and hopes for future therapies. As Dr. Melanie Blank, Medical Officer with FDA, says, “Patients are the experts of their disease.” Their experiences provide valuable insight for the FDA and other researchers, medical product developers and health care providers.
We recognize the great courage of these select panelists and are grateful for their candor and bravery in sharing their thoughts and experiences. To watch these stories and the entire meeting, please visit: https://rarediseases.org/krabbe-disease-externally-led-patient-focused-drug-development-meeting-registration/. Written comments and polling questions are open to members of the Krabbe community for participation prior to November 30.
The results of the Krabbe disease EL-PFDD meeting will be shared publicly in an upcoming “Voice of the Patient” report, in an effort to inform the development of potential treatments that can improve the lives of patients living with Krabbe disease.