Abstract
The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. This family of diseases results from mutations in one of 14 different genes that share common clinical and pathological etiologies. Clinically, the diseases are subcategorized into infantile, late-infantile, juvenile and adult forms based on their age of onset. Though the disease phenotypes may vary in their age and order of presentation, all typically include progressive visual deterioration and blindness, cognitive impairment, motor deficits and seizures. Pathological hallmarks of NCLs include the accumulation of storage material or ceroid in the lysosome, progressive neuronal degeneration and massive glial activation. Advances have been made in genetic diagnosis and counseling for families. However, comprehensive treatment programs that delay or halt disease progression have been elusive. Current disease management is primarily targeted at controlling the symptoms rather than “curing” the disease. Recognizing the growing need for transparency and synergistic efforts to move the field forward, this review will provide an overview of the therapeutic approaches currently being pursued in preclinical and clinical trials to treat different forms of NCL as well as provide insight to novel therapeutic approaches in development for the NCLs.
Highlights
Lysosomal storage disorders (LSDs), a group of rare disorders involving the accumulation of storage material in the lysosome, have been estimated to occur in approximately one in 7500 live births [1, 2]
Neuronal Ceroid Lipofuscinoses (NCLs), referred to as Batten Disease, are a subset of lysosomal storage disorders that can arise from genetic mutations within one of 14 different genes [3]
As previously mentioned NCLs can be caused by one of a number of genetic mutations and can onset at different ages. This genetic heterogeneity results in approximately 9 different forms of NCLs [4, 7]) with three most common forms being Classic Infantile Neuronal Ceroid Lipofuscinosis (INCL), Classic Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL), and Juvenile Neuronal Ceroid Lipofuscinosis (JNCL; [4])
Summary
Lysosomal storage disorders (LSDs), a group of rare disorders involving the accumulation of storage material in the lysosome, have been estimated to occur in approximately one in 7500 live births [1, 2]. When one thinks about the use of gene therapy in the treatment of any disease, including NCLs, there are a number of technical hurdles that must be overcome.
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