Dr. Stockler and her research team are currently in the process of obtaining ethics approval for an international Morquio B and GM1 gangliosidosis patient and caregiver focus groups to gather input on patient meaningful outcomes. Morquio B and GM1 gangliosidosis are both caused by mutations in the GLB1 gene. The purpose of the focus groups is to determine what outcomes or endpoints are important to patients and their families for evaluating potential drug therapies or treatments for Morquio B and GM1 gangliosidosis. Upon successful completion of this project, the next phase of the study involves conducting a series of online surveys among a larger community of Morquio B and GM1-gangliosidosis. A group of experts—which consists of academic researchers, patients/caregivers, and healthcare professionals—will be asked to rate and rank the list of outcomes, narrowing down the potential list of outcomes that are deemed important to all stakeholders. The final step of this project is to convene a meeting with these experts to finalize the core outcomes set (COS) list.
This collaboration will contribute to developing a COS for Morquio B Disease and GM1 gangliosidosis (Juvenile and Late-Onset), comprising 8-10 outcomes. Our ultimate goal is to help future clinical trials measure outcomes that are most important to the medical and patient community.