The 8th Translational Research Conference for the Management of Neuronal Ceroid Lipofuscinoses (NCLs), held in Chicago, convened leading researchers, clinicians, and industry partners to discuss advancements in Batten disease therapies. Hosted by Our Promise to Nicholas Foundation, the bi-annual meeting facilitated knowledge exchange and collaboration among experts.
Clinical Trial Design and Therapeutic Approaches
The conference addressed the complexities of conducting clinical trials in Batten disease, emphasizing the critical role of collaboration between patient advocacy groups, pharmaceutical companies, and academic teams. Strategies for leveraging therapeutic platforms to target multiple diseases simultaneously were discussed, along with the integration of real-world data and artificial intelligence to enhance diagnosis and patient care. The use of natural history data to manage phenotypic variability in trial design was also highlighted.
Natural History and Biomarker Development
Presentations underscored the importance of natural history studies in advancing trial readiness, with a focus on collaborative research models and family involvement. Discussions covered blood-based biomarker discovery and the role of large animal models in bridging preclinical and clinical findings. These efforts aim to refine diagnostic criteria and account for the variability seen in Batten disease.
Gene Therapy and Nucleic Acid-Based Strategies
Advanced therapeutic approaches, including small molecules, enzyme replacement therapies (ERTs), gene therapies, and nucleic acid-based strategies, were a key focus. Updates and key learnings from clinical programs targeting various Batten disease subtypes, such as CLN1, CLN2, and CLN7, were presented. Preclinical and translational studies in CLN5 disease, utilizing sheep models, have also provided valuable insights. Furthermore, personalized antisense oligonucleotide (ASO) strategies, including individualized medicine journeys in CLN7 disease (Milasen) and CLN3 disease (Project Butterfly), were explored.
Lentiviral and Gene Editing Approaches
The conference also highlighted ex vivo lentiviral gene therapies, with case studies on innovations in autologous stem cell-based treatments for CLN1 disease and other lysosomal storage disorders. These advancements represent significant progress in the development of effective therapies for Batten disease.
