John Crowley, CEO and Chairman at Amicus Therapeutics, describes how his company decides which rare diseases to focus their drug development program towards.

At present, the have numerous gene therapies, including ones to treat Batten disease, Fabry disease, Pompe disease, CDKL5 deficiency disorder, and Niemann-pick type C.

The company’s gene therapy programs are in partnership with researchers at the University of Pennsylvania and Nationwide Children’s Hospital.

Batten disease is a group of progressive neurological disorders known as neuronal ceroid lipofuscinoses (CLN). Batten disease often affects the brain and may cause deterioration of both intellect and neurological functions. Each form is caused by a mutation in a different gene and Amicus has numerous gene therapies in develop for a several of the subgroups, including CLN6, CLN3, CLN8, and CLN1.

Fabry disease is an inherited lysosomal storage disorder caused by deficiency of an enzyme called alpha-galactosidase A (alpha-Gal A), which is the result of mutations in the GLA gene. Reduced or absent levels of alpha-Gal A activity lead to the accumulation of GL-3 in the affected tissues, including the central nervous system, heart, kidneys, and skin.

Pompe disease is an inherited lysosomal storage disorder in which mutation in the GAA gene leads reduced levels of the GAA enzyme. The net result is a buildup of glycogen, especially in muscles, that can lead to a plethora of problems.

CDKL5 deficiency is the result of mutations in the CDKL5 gene that results in a number of severe neurological problems, including seizures, poor muscle tone, and autistic-like tendencies.

Niemann-pick disease is due to mutations in NPC1 or NPC2 genes. Children with these types usually develop difficulty coordinating movements, an inability to move the eyes vertically, poor muscle tone, severe liver disease, and interstitial lung disease. Individuals often experience progressive decline in intellectual function and about one-third have seizures.

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