National Tay-Sachs & Allied Diseases Association (NTSAD), leader in the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases, releases its Voice of the Patient report that summarized their Externally-led Patient-Focused Drug Development (EL-PFDD) meeting on GM2 gangliosidosis – Tay-Sachs and Sandhoff diseases.
BOSTON, Aug. 15, 2024 /PRNewswire-PRWeb/ — National Tay-Sachs & Allied Diseases Association (NTSAD), leader in the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases, convened an Externally-led Patient-Focused Drug Development (EL-PFDD) meeting on GM2 gangliosidosis – Tay-Sachs and Sandhoff diseases – earlier this year. This pivotal meeting was aimed at bringing the voices of patients and caregivers to the forefront of drug development discussions for GM2. “Being able to invite members of the NTSAD community who are living with or caring for a loved one with one of these devastating conditions to participate in the meeting was essential to our role as a leading patient advocacy organization,” remarked Kathleen Flynn, NTSAD’s CEO. “They are the experts, and their voices need to be heard early and often in the drug development and regulatory processes. We were grateful to the US FDA for granting us the opportunity to host this meeting and, most importantly, to the individuals and family members who shared their personal stories.” Testimonials throughout the meeting painted a clear picture of the devastation caused by GM2. The meeting incorporated diverse perspectives through expert presentations, patient and caregiver video stories, panel discussions, caller remarks, and polling data. A commonality among the participants was the heartbreaking journey entire families endure as they are left powerless as the cruel progression of the disease takes hold.
Families expressed a preference for treatments that offer tangible improvements in daily life, such as the ability to smile, hold hands, or walk without fear of falling. Dan, father to Amélie who died from infantile Tay-Sachs disease at eight years old, noted a key treatment goal would be “the ability to reach out and grab something, grab a toy, grab food, even holding a hand.”
Treatments that offer small gains or marginal improvements would be a lifeline for the GM2 community, providing hope in the face of overwhelming daily challenges. There is a notable willingness among parents of young children and adults with late-onset GM2 to accept significant risks associated with drug development in hopes of improving their loved ones’ daily experiences and functionality, underscoring a shift from focusing solely on extending survival to enhancing quality of life.
Kate, whose three-year-old son lives with Tay-Sachs, said, “My child has been given a death sentence. I have no choice but to watch him slowly fade away until the day comes when GM2 finally wins the battle over his body.”
Contributions shared during this all-day meeting were synthesized into the GM2 Voice of the Patient report, which captured the perspectives and priorities of the GM2 community to guide future research and treatment development. The report was recently published by NTSAD to serve as a vital resource for the FDA and other stakeholders, including industry representatives involved in clinical research, and findings will be presented at scientific conferences. Mathias Schmidt, PhD, CEO of JCR Pharma USA, remarked, “This is more than any textbook can teach us and gives us guidance as to what matters most for parents, patients, caregivers.”
To learn more about Tay-Sachs and Sandhoff diseases and the daily impact they have on affected individuals and families, read the GM2 Voice of the Patient report here.
About NTSAD
Founded in 1957, National Tay-Sachs & Allied Diseases Association (NTSAD) leads the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community. Supporting families is the center of everything we do. For more information, please visit NTSAD.org.
About Externally Led, Patient-Focused Drug Development (EL-PFDD) Meetings
Patient-Focused Drug Development (PFDD) is a systematic approach to help ensure that patients’ experiences, perspectives, needs, and priorities are captured and meaningfully incorporated into drug development and evaluation.
EL-PFDD History
The PFDD initiative started in 2012 as part of FDA’s commitments under the Prescription Drug User Fee Act (PDUFA) V. After conducting FDA-led PFDD meetings, FDA recognized there are many more diseases/conditions that can be addressed beyond those that were planned and conducted by FDA. To help expand the benefits of FDA’s PFDD initiative, in 2015, FDA announced the opportunity for externally led (EL-PFDD) meetings. EL-PFDD meetings are planned and hosted by patient organizations, with the input of FDA staff, and use the process established by FDA-led PFDD meetings as a model.
FDA’s Role in Medical Product Development and Evaluation
One of FDA’s missions is to protect and promote public health by evaluating the safety and effectiveness of new drugs, biologics, and devices. FDA does not develop drugs nor conduct clinical trials. FDA does, however, play a constructive role in guiding, helping, or evaluating at some stages of the pre-clinical, translational, and clinical development work.
Media Contact
Kathleen M. Flynn, National Tay-Sachs and Allied Diseases Association – Boston, MA, 1 617-277-4463, [email protected], ntsad.org
SOURCE National Tay-Sachs and Allied Diseases Association – Boston, MA
