Lysosomal Treatments

People with Batten disease (also called neuronal ceroid lipofuscinosis, or NCL) have one of several possible genetic mutations that interfere with the way their cells process a substance known as lipofuscin.

As a result, lipofuscin accumulates in the lysosomes, compartments in the cells responsible for breaking down waste. Too much lipofuscin is toxic to cells, and brain cells are particularly sensitive to this toxicity. This can lead to severe symptoms of brain damage such as blindness, seizures, and cognitive and motor deterioration.

Lysosomal modulators are new experimental therapies that aim to correct malfunctioning lysosomes in Batten disease and other lysosomal storage disorders. Research on lysosomal modulators is still in early preclinical stages.

How lysosomal modulators work

Lysosomes contain several different digestive enzymes that function to break down cellular waste. A protein called TFEB acts as a “master switch” that regulates the levels of digestive enzymes inside lysosomes.

Lysosomal modulators work by enhancing the ability of the lysosomes to clear cellular waste. One method of achieving this is by increasing levels of digestive enzymes by turning on TFEB function through TFEB activation.

Studies on lysosomal modulators

A study published in the journal Nature Communications showed that trehalose, a type of sugar that functions as a TFEB activator, was able to enhance lipofuscin clearance in lysosomes, and alleviate brain damage and prolonging survival in a mice with Batten disease.

This study was conducted by scientists from Baylor College of Medicine in Houston, Texas, the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, and King’s College London.

Scientists from both Baylor College and the Neurological Research Institute at Texas Children’s had also conducted a separate study on fibroblast cells taken from human patients with late infantile NCL and found that exposure to another type of TFEB activator called 2-hydroxypropyl-β-cyclodextrin (HPβCD) was able to clear lipofuscin buildup in the diseased cells. This study was published in the Journal of Biological Chemistry in 2014.

Additional details

Lysosomal modulators are also being investigated as a potential therapy for other forms of lysosomal storage disorders such as mucopolysaccharidosis, multiple sulfatase deficiency, and Pompe disease.


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