Lysosomal storage disorders are a group of diseases that result from defects in the lysosome, a cellular component that shuttles proteins and other cellular factors to neighboring cells, and also removes toxic material from cells. Aspartylglucosaminuria (AGU) is a rare, neurodegenerative, lysosomal storage disorder, caused by a deficiency of the aspartylglucosaminidase (AGA) enzyme, which leads to toxic accumulation of N-acetylglucosamines and cellular dysfunction. AGU cases have been reported throughout the world and across ethnicities, and it is most well-studied in people of Finnish descent. AGU is characterized by developmental delay and subsequent intellectual disability, which worsens with age. As disease progresses, patients experience psychomotor regression, with worsening gait disturbance, behavioral/emotional issues, and worsening intellectual disability. People with AGU have a shortened life span, with mortality typically in the fourth decade.

Natural HISTORY STUDY

A Natural History Study of Aspartylglucosaminuria (AGU)

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Charcot-Marie-Tooth (CMT) disease is a group of inherited peripheral and/or sensory neuropathies, caused by defects in genes that affect axons or the myelin sheath that coats the axon nerve. CMT4J is a rare form of CMT caused by mutations in the FIG4 gene. Individuals with this form of CMT typically develop symptoms of leg weakness in early childhood, and early onset disease is associated with a rapidly progressive course, ultimately leading to loss of ambulation, quadriplegia, respiratory compromise and early death. Later onset disease has a more variable course that can lead to transient muscle weakness, while others develop a rapidly progressive form of the disease reminiscent of amyotrophic lateral sclerosis.

Natural HISTORY STUDY

A Natural History Study of Charcot-Marie Tooth 4J (CMT4J)

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Neurogene is developing a series of unique gene therapy products for rare disorders collectively referred to as lysosomal storage diseases. LSDs result from a defect in a gene involved with maintenance of the lysosome, a cellular component that shuttles proteins and other cellular factors to neighboring cells, and also removes toxic material from cells. When the genetic defect arises, toxic material accumulates in the cell and can lead to multiple-organ defects, depending on the implicated gene and on the extent of the defect. To date, there are no products approved for neurologic LSDs.

Neurogene is developing a series of unique gene therapy products for rare disorders collectively referred to as lysosomal storage diseases. LSDs result from a defect in a gene involved with maintenance of the lysosome, a cellular component that shuttles proteins and other cellular factors to neighboring cells, and also removes toxic material from cells. When the genetic defect arises, toxic material accumulates in the cell and can lead to multiple-organ defects, depending on the implicated gene and on the extent of the defect. To date, there are no products approved for neurologic LSDs.