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Genetic Linkage

Clinical Trial Set to Start for CLN1 Batten Disease

On May 21, Abeona Therapeutics announced the go-ahead from the Food and Drug Administration (FDA) for a clinical trial to test a gene therapy for a form of Batten disease called CLN1 disease, aka infantile neuronal ceroid lipofuscinosis. The King family and their organization Taylor's Tale has supported the research that made the clinical trial possible since their beloved Taylor was diagnosed at age 7 in 2006.

 

The eight forms of Batten disease are ultrarare – together they account for only 1 in 100,000 individuals. Each is caused by mutation in a different gene, but all cause neurodegeneration. The conditions were originally named for what was thought to be the typical age of onset, before much was known about the genetics or the natural histories. CLN1 is now recognized to manifest in infancy, late infancy, and in children (juvenile), and Taylor had the juvenile form.

 

CLN1 is the classic "infantile" form. But Taylor King was no longer an infant when she experienced the first subtle sign, a new difficulty with numbers in the first grade. Taylor had taught herself to read at age three.

 

"There were signs of the secret hiding in Taylor's genes even then, but they were too complex and too twisted for any of us to understand," wrote her sister Laura in her book Run to the Light, which I reviewed here.

 

To continue reading, go to my DNA Science blog for Public Library of Science, where this post first appeared.

 

 

 

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