About Neuronal Ceroid Lipofuscinosis (NCL)

Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, is a fatal neurodegenerative disorder that afflicts infants and young children. NCL is caused by inheritance of a recessive genetic mutation. The defective gene results in the deficiency of an important “housekeeping” enzyme that processes cellular waste substances. Without this enzyme, the cellular waste accumulates in the lysosomes of the central nervous system (CNS) cells, causing the neurons to cease functioning and eventually die.

Children with NCL appear healthy when born, but as their brain cells die, they begin to suffer seizures and progressively lose motor skills, sight and mental capacity. Eventually, they become blind, bedridden and unable to communicate or function independently. The infantile and late infantile forms of NCL are caused by different genetic mutations. As the names imply, the two forms begin to afflict patients at different stages of infancy, but both have similar disease progression and outcomes.

NCL is a rare disease. The infantile and late-infantile forms of NCL are estimated to occur in 2 to 4 out of every 100,000 live births in the U.S. It is more frequently found in northern Europe, Canada and Newfoundland.

There is currently no treatment for the relentless degenerative effects of the disease. While available drugs may reduce seizures and physical therapy may temporarily facilitate mobility, NCL remains a fatal disease.

The StemCells Approach: Enzyme Production for Neuroprotection

HuCNS-SC® human neural stem cells, when transplanted into the animal brain, migrate to the areas where neurons are affected by cellular waste buildup. They then produce the deficient enzyme needed to eliminate waste accumulation and thus protect the neurons.

NCL Cartoon

HuCNS-SC Cell

Enzymes
Cellular Wastes
Neuron

When transplanted into the brain of an INCL mouse, neural stem cells have been shown to protect and maintain 57% of host neurons, compared with only 8% of host neurons remaining in the untreated group.

Learn about our completed NCL clinical trial…

Learn about our NCL pre-clinical studies…

View our publications on NCL…

The Bigger Picture

NCL is just one of more than 50 lysosomal storage disorders (LSDs). LSDs affect approximately one in every 5,000 individuals worldwide; a child is born with a lysosomal disorder approximately every half hour. While there is currently no known cure, certain LSDs can be treated with enzyme replacement therapies. However, such an approach is not a practical treatment option for the more than 20 CNS-mediated LSDs, as enzymes are too large to cross the blood-brain barrier. For these LSDs, neural stem cell transplantation directly into the CNS may hold promise as a future therapy.