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.Cognitive learning theory in the classroom 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.Cognitive learning theory in the classroom

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.Cognitive learning theory in the classroom 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.Cognitive learning theory in the classroom

Wrote laura, “I typed the unfamiliar phrase into google with trembling fingers and crumpled into my desk chair as I read the results. Words and phrases shot off the screen and straight into my vulnerable flesh like icy daggers, each one more awful than the last: rare.Cognitive learning theory in the classroom inherited. Progressive. Seizures. Motor deterioration. Cognitive deterioration. Blindness. No treatment. No cure. Early death. We found out my little sister was dying on a parched morning in the summer of 2006, just a few weeks shy of her eighth birthday and a month after my wedding.” laura spent a lot of time with her much-younger sister during the preschool years.Cognitive learning theory in the classroom

In 2013, the organization decided to support the work of steve gray, phd, then at the university of north carolina and later at the university of texas southwestern medical center. Taylor’s tale also pushed for passage of 2015’s taylor’s law, establishing the nation’s first rare disease advisory council, in north carolina.Cognitive learning theory in the classroom the state has a million rare disease patients.

The gene therapy, called ABO-202 for now, is unusual in that it will be sent into the spinal cord and into the bloodstream, targeting the central nervous system and peripheral nervous system, respectively.Cognitive learning theory in the classroom in mice “the combined intravenous and intrathecal administration approach showed additional benefits compared to a single route of delivery, providing a new treatment paradigm for patients with devastating neurological diseases,” said dr.Cognitive learning theory in the classroom gray. It extended life and restored neural function. The one-time treatment will be delivered aboard the well-studied AAV9 viral vector.

Most children with CLN1 don’t live past age 5 because their cells don’t make any PPT1, but the fact that taylor’s cells made about 2 percent of the normal output of the enzyme likely enabled her to live to age 20.Cognitive learning theory in the classroom “it delayed the buildup of gunk in her cells. She was rare among the rare,” laura said. Still, the lysosomes in taylor’s neurons became inflamed and degenerated into a long, slow decline.Cognitive learning theory in the classroom

Once a mutation is identified and how it derails specific types of cells discovered, designing a gene therapy entails engineering a vector to deliver a working copy of the implicated gene, followed by testing in animal models of the human disease and/or in human cells.Cognitive learning theory in the classroom these are preclinical tests, and they often continue even after gene therapy trials begin. One reason – once a gene therapy (or any other) works and extends life significantly, new symptoms can appear.Cognitive learning theory in the classroom

The CLN1 community is now at the starting gate for testing the gene therapy in children. The phase 1/2 clinical trial will evaluate safety and, if all goes well, efficacy.Cognitive learning theory in the classroom abeona will announce the starting date for the trials later this year, which will be conducted at the university of rochester medical center in the U.S.Cognitive learning theory in the classroom and the university of hamburg-eppendorf in germany and possibly elsewhere.

“it’s an incredible milestone for our organization and CLN1 patients and families, as well as many others whose condition could potentially be treated with gene therapy.Cognitive learning theory in the classroom this is why we founded taylor’s tale – to spearhead and enable the development of a viable treatment for CLN1 disease. So many called it an impossible mission, but we believed enough to try, even after it became clear taylor wouldn’t survive long enough to benefit.Cognitive learning theory in the classroom we’re grateful to steve gray, our partner and friend for the past six years, to ale rozenberg, who played an instrumental role in moving steve’s work forward, and to the entire team at abeona for all they’ve done to guide it to the clinical stage,” said laura.Cognitive learning theory in the classroom