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Enrollment in a clinical trial testing NGN-101 – an experimental gene therapy for CLN5, a type of Batten disease in late childhood – is expected to begin early next year at the University of Rochester Medical Center ( URMC).

“This trial will advance research in the development of a potentially disease-modifying treatment for CLN5 disease, offering hope to individuals and families where there is currently none,” Jonathan Mink, MD , PhD, professor of pediatric neurology and head of pediatric neurology at URMC, and lead investigator of the trial, said at a university Press release.

CLN5 is caused by mutations in a gene called CLN5, and is characterized by symptoms such as seizures, motor dysfunction, cognitive impairment and vision problems. No approved treatment is currently available to reverse these symptoms.

“At this stage of CLN5 disease, what we can offer patients is limited to managing some of their symptoms, and even standard treatment for symptoms such as seizures is not always effective,” Mink said.

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NGN-101 is designed to provide a functional version of the CLN5 gene to cells of the nervous system. The therapy uses a specially designed form of adeno-associated virus (AAV) – a virus commonly used in gene therapy because it is easy to handle in the lab and usually does not make people sick.

In animal studies, treatment with NGN-101 has been shown to stop key features of disease progression, such as visual, motor and cognitive problems, according to URMC. NGN-101 has been designated an orphan drug – intended to encourage the development of therapies for rare diseases – in the United States and Europe.

In the upcoming open-label phase 1/2 clinical trial, participants will receive a single dose of NGN-101, given by injection into cerebrospinal fluid (the fluid that surrounds the brain and spinal cord). This is usually done via an intrathecal injection or an injection into the spinal canal.

Because CLN5 is so rare, patients from across the United States are expected to travel to Rochester to participate in the study, according to Mink.

“This new study also has the potential to inform the development of gene therapies for other forms of the disease,” Mink said. “This is a moment that the research community, patients and families have been waiting for a long time. “

Neurogenic, the company that develops NGN-101, obtained regulatory approval to begin testing earlier this year. The company is also conducting a natural history study (NCT03822650) in people with CLN5 or CLN7, another form of Batten in late infants.

The natural history study, which still recruits CLN5 patients at URMC, will assess the progression of CLN5 disease in the absence of treatment, with the goal of determining the most important outcomes to measure in clinical trials.

Neurogene said participants in the natural history study are permitted, if eligible, to participate in the company’s gene therapy clinical trials.