An investigational drug with the potential to treat infantile Batten disease has been identified, according to researchers at the National Institutes of Health

Researchers tested the drug in mice with the disease and found that it slowed the loss of coordination seen in the disorder and extended the animals’ life span.

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The drug candidate is a derivation of hydroxylamine, a molecule with a chemical structure similar to ammonia. Although it is normally toxic, a slight change in the structure results in the formation of N-(tert-Butyl-Hydroxylamine) or NtBuHA, a non-toxic molecule.

Children with infantile Batten disease have a genetic deficiency of an enzyme PPT1 (palmitoyl-protein thioesterase-1) that breaks down ceroid, a waxy substance. Without PPT1, ceroid builds up in brain cells, and results in infantile Batten disease. 

After testing various chemically modified hydroxylamines, researchers found that NtBuHA could mimic PPT1 in cultured cells, preventing the waxy buildup but without the toxic effects of hydroxylamine. When tested in mice lacking PPT1, NtBuHA did not prevent all of the damage that typically occurs, but the waxy buildup was greatly reduced in the treated mice vs. the untreated mice.

The researchers concluded that NtBuHA protected the neurons in the animals’ brains, slowed the deterioration in motor coordination, and extended the animals’ life span.

Study results are published in Nature Neuroscience.

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