CLN5 Gene Therapy Trial to Start Early Next Year in Rochester

Marisa Wexler MS avatar

by Marisa Wexler MS |

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gene therapy trial | Batten Disease News | Illustration of medicine bottle labelled 'clinical trials'

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

“This trial will move research forward in developing a potentially disease-modifying treatment for CLN5 disease, providing hope to individuals and families where currently none exists,” Jonathan Mink, MD, PhD, a professor of pediatric neurology and chief of child neurology at URMC, and lead investigator for the trial, said in 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 treatments are currently available to reverse these symptoms.

“At this point for CLN5 disease, what we can offer patients is limited to managing some of their symptoms, and even standard treatment for symptoms like seizures are not consistently effective,” Mink said.

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Neurogene Natural History Study Still Enrolling CLN5 Patients

NGN-101 is designed to deliver a functional version of the CLN5 gene to cells in the nervous system. The therapy uses a specifically engineered form of adeno-associated virus (AAV) — a virus commonly used in gene therapies because it is easy to manipulate in a lab, and it doesn’t usually make people sick.

In animal studies, treatment with NGN-101 has been shown to stop key features of disease progression, such as vision, motor, and cognitive problems, according to URMC. NGN-101 has been designated an orphan drug — given to incentivize the development of therapies for rare diseases — in the U.S. and in Europe.

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

As CLN5 is so rare, it’s expected that patients from across the U.S. will travel to Rochester to participate in the study, according to Mink.

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

Neurogene, the company developing NGN-101, secured regulatory clearance to start the trial earlier this year. The company is also running a natural history study (NCT03822650) in people with CLN5 or CLN7, another form of late-infantile Batten.

The natural history study, which is still enrolling CLN5 patients at URMC, will evaluate how CLN5 disease progresses in the absence of treatment, with the goal of determining the most important outcomes to measure in clinical trials.

Neurogene has indicated participants in the natural history study are allowed, if eligible, to participate in clinical trials of the company’s gene therapies.