The FDA approval of the enzyme replacement therapy cerliponase alfa (Brineura) for the treatment of CLN2 Batten disease is an important milestone in Batten disease therapy.Promising results from preclinical research indicate that gene therapy — particularly approaches that use adeno-associated virus — represents a promising treatment option for patients in the near future.Many of the preclinical strategies being explored for the treatment of one form of Batten disease could have applications across multiple subtypes of Batten disease and even other lysosomal storage disorders.Investigators now recognize that a single treatment might not be sufficient to halt disease progression and are exploring combinatorial approaches to tackle multiple aspects of Batten disease progression.A battery of new preclinical and clinical tools have been developed that facilitate effective therapy development in Batten disease, enabling an unprecedented acceleration in drug discovery for these fatal disorders.
