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The European Medicines Agency (EMA) has nominated Neurogene’s gene therapy candidate for CLN5, a form of Batten disease in late childhood, an orphan drug as a potential treatment for the disease.

“This regulatory designation is an important step in addressing the urgent and unmet needs of families and patients living with CLN5, and follows the orphan drug designation previously granted in 2020 by the US Food and Drug Administration (FDA). United for this same gene therapy candidate, “Rachel McMinn, PhD, Founder and CEO of Neurogene, said in a press release.

Experimental gene therapy uses harmless adeno-associated virus (AAV) to deliver a functional copy of the CLN5 gene to cells of a patient. AAVs are common transport vehicles for gene therapy because they can easily enter cells, including brain and spinal cord cells, making them particularly useful for neurological disorders such as Batten disease. .

Symptoms of CLN5 and other types of late childhood Batten disease include seizures, progressive loss of motor and intellectual skills, vision loss, and premature death.

“With no treatment options available, the result is devastating for children and their families,” said Angela Schulz, MD, PhD, of Hamburg-Eppendorf University Medical Center in Germany.

Although the exact function of CLN5 remains unclear, mutations in the gene causes waste molecules called lipofuscins to form at toxic levels inside cells, eventually killing them. Nerve cells appear to be particularly sensitive to damage caused by lipofuscins.

Preclinical studies have found evidence that CLN5 plays a role in fat metabolism and in the maintenance of myelin, the fat-rich substance that insulates nerve fibers. It can also affect protein transport and embryonic development.

Neurogene is studying therapies for CLN5 and CLN7, another late childhood form of Batten disease. The company is currently conducting a natural history study (NCT03822650) of these disorders in collaboration with UT Southwestern Medical Center.

Instead of testing the safety and effectiveness of a given medical intervention, natural history studies are observational in nature, intended to help researchers better understand the course of a disease – in this case, CLN5 and CLN7 – so they can determine the most relevant results. to be measured in future clinical trials.

Orphan drug designation means that Neurogene’s gene therapy can benefit from development incentives such as trial protocol support, reduced regulatory fees, and 10 years of market exclusivity if the therapy receives regulatory approval.

“Neurogene is working with Batten disease experts, regulatory authorities and caregivers to provide safe and effective gene therapy for this disease as quickly as possible,” McMinn said.

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