Below is a summary from Children's Hospital of Philadelphia (CHOP) on their work in preparation for the ASO clinical trail. CHOP is working alongside SynaptixBio.
Impact of Disease: This work includes interviews and surveys conducted with families, focusing on the impact of TUBB4A on children and their families. Parents provided feedback on the topic and expressed priorities for factors that could potentially improve overall quality of life. The project has ended, and a manuscript is currently under revision. Once available, I will be happy to share the link to the manuscript for easier access.
The Natural History of Variable Subtypes in Pediatric-Onset TUBB4A-Related Leukodystrophy: We are concluding a project involving more than 200 children with TUBB4A-related leukodystrophies (both U.S.-based and international). In this work, we explore medical events occurring in this population and aim to identify early predictors of disease progression. The manuscript is currently being prepared and will be submitted for peer review soon. Once accepted and published, we will share the link to the manuscript as well.
**** Clinical Trial Readiness in TUBB4A-Related Leukodystrophy:**** In alignment with recent FDA guidelines on Patient-Focused Drug Development (PFDD) (https://www.fda.gov/drugs/development-approval-process-drugs/fda-patient-focused-drug-development-guidance-series-enhancing-incorporation-patients-voice-medical), we are working on creating the infrastructure and developing a methodology to comply with this process.
Retrospective and Prospective Natural History Studies in TUBB4A-Related Leukodystrophy: We continue our efforts to understand the natural trajectories of TUBB4A-related leukodystrophies by enrolling children in our research protocol. Interested participants can consent to our research protocol and share information about their children, as well as participate in our prospective study through assessments focused on capturing gross and fine motor functions, cognitive abilities, and adaptive behavior. This is a fundamental step in identifying potential clinical trial endpoints.
