Experimental therapies in the neuronal ceroid lipofuscinoses.
The neuronal ceroid lipofuscinoses represent a group of severe childhood lysosomal storage diseases. With at least 13 identified variants they are the most common cause of inherited neurodegeneration in children. These diseases share common pathological characteristics including motor problems, vision loss, seizures, and cognitive decline, culminating in premature death. Currently, no form of the disease can be treated or cured, with only palliative care to minimise discomfort. This review focuses on current and potentially ground-breaking clinical trials, including small molecule, enzyme replacement, stem cell, and gene therapies, in the development of effective treatments for the various disease subtypes. This article is part of a Special Issue entitled: "Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)".
['Neverman|Nicole J|NJ|', 'Best|Hannah L|HL|', 'Hofmann|Sandra L|SL|', 'Hughes|Stephanie M|SM|']
Gene therapy Batten disease Cell therapy Enzyme replacement therapy Neuronal ceroid lipofuscinosis Small molecule therapy