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Gene therapies for children with Batten disease are being evaluated in two clinical trials, one in New York and the other in Ohio. The trials are testing ways to treat two types of Batten disease by correcting the genetic defect that causes it.

A study is a phase 1/2 clinical trial (NCT01414985) which takes place at Weill Cornell Medical College in New York, which evaluates the safety and efficacy of using the AAVRh.10 virus to provide a CLN2 gene to affected children late infantile Batten disease, also known as late infantile neuronal ceroid lipofuscinosis (LINCL).

This type of Batten disease, a lysosomal overload disorder, can be caused by a mutation in the CLN2 uncomfortable. The damage disrupts the ability of brain cells to recycle protein, killing nerve cells in the brain and leading to progressive neurological and brain damage. The onset of symptoms, a mixture of visual and motor problems, is usually evident in children aged 2 to 4 years.

The trial, which enrolls eight patients aged 3 to 18 years with a definitive diagnosis of LINCL, will provide a CLN2 gene using AAVRh.10 virus – a virus derived from primates known to be harmless to humans – as a gene transfer vector. Two study arms are planned: one, involving two patients, will receive a higher dose of gene copies, and the other, composed of six patients, will receive a lower dose.

According to a Weill Cornell document on file with the National Institutes of Health, studies in CLN2 knockout mice showed that the virus was an efficient gene delivery system and that treatment had “the potential to slow disease progression.”

Treatment effectiveness will be determined at Months 1, 6, 12, and 18 using the Weill Cornell LINCL Scale, a 12-point measure of central nervous system response through changes in diet, the process and motor and language skills. Secondary measurements will be assessed using MRI scans and questionnaires.

This study is scheduled to end in December 2020 and will be led by Dr Ronald Crystal of Weill Medical College. More information, including registration contacts, is available on its clinical webpage.

In an earlier trial, Weill’s same team used the AAV2 virus to provide a CLN2 and reported that it showed both safety and “small but significant” benefit in treated patients. Researchers believe that the AAVRh.10 virus is a more efficient delivery system than AAV2, according to the NIH document.

In the second essay, NCT02725580, the adeno-associated virus 9 (AAV9) will be used to carry a CLN6 gene to patients with the late infantile variant of Batten disease CLN6. This open-label trial and first trial in humans, which takes place at National Children’s Hospital in Columbus, Ohio, will enroll at least six people, aged 1 year or older, with a mutation in this gene. The treatment will be given once directly into the spinal cord through a lumbar puncture.

Safety and toxicity are the primary focus of this study, but secondary measures of treatment effectiveness will be performed using MRI and cognitive, visual and linguistic tests.

The Gray foundation, created in 2015 by the parents of Charlotte and Gwenyth Gray, both suffering from this variant of Batten disease with a mutation in the CLN6 gene, finance and collaborate on this study.

Its principal investigator is Dr. Jerry Mendell of the Gene Therapy Center at Nationwide Children’s Hospital.

Registration for the trial and other information is available on the clinical webpage.