GM1 gangliosidosis is a rare disease for which there is a limited understanding of disease progression and meaningful outcome measures. In addition, parents report that clinic-based assessments are not always well-suited to fully capture the disease features and other metrics that impact the patient and their family. To address the methodological challenges of this small, heterogeneous population, our Natural History Video Study will collect patient-specific home-based video data and qualitative interviews with caregivers.
During this two-year study, parents or guardians of a GM1 child collect video data of patients doing specific daily life activities at baseline and follow-up timepoints throughout the study and/or submit videos taken in the past. All video is submitted through a secure smartphone application.
The video assessments focus on several hallmarks of GM1 progression. Caregivers participate in qualitative interviews to provide context for the videos and discuss any changes they observe during the study. Activity videos will be evaluated by expert clinicians. The caregiver interviews and clinician-rated activities will inform the patient-specific disease trajectories for each hallmark.
There is no treatment or intervention associated with this study and data collected will be used as part of the natural history control group for our Gene Therapy trial.