Neuronal ceroid lipofuscinosis type 7 (CLN7) disease is a lysosomal storage disease
caused by mutations in the facilitator superfamily domain containing 8 (MFSD8) gene, which …

The potential host immune response to a nonself protein poses a fundamental challenge for
gene therapies targeting recessive diseases. We demonstrate in both dogs and nonhuman …

Gene therapy is a powerful tool to treat various central nervous system (CNS) diseases
ranging from monogenetic diseases to neurodegenerative disorders. Adeno-associated …

Tay–Sachs disease (TSD) is a fatal neurodegenerative disorder caused by a deficiency of
the enzyme hexosaminidase A (HexA). TSD also occurs in sheep, the only experimental …

Enzyme replacement therapy has revolutionized the treatment of the somatic manifestations
of lysosomal storage diseases (LSD), although it has been ineffective in treating central …

Adeno-associated virus serotype 9 (AAV9) vectors have recently been shown to transduce
cells throughout the central nervous system of nonhuman primates when injected into the …

Hunter syndrome is an X-linked recessive disease caused by deficiency of the lysosomal
enzyme iduronate-2-sulfatase. The severe form of this progressive, systemic, and …

Abstract Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan
inherited lysosomal storage disease and one of the most common MPS subtypes. The …

Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease caused by degeneration
of motor neurons leading to rapidly progressive paralysis. About 10% of cases are caused …

Rare monogenic disorders such as lysosomal diseases have been at the forefront in the
development of novel treatments where therapeutic options are either limited or unavailable …