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A natural history study in people with CLN7 disease is now fully enrolled, but patients with CLN5 disease – each a form of late childhood Batten disease, and both are in this study – are still needed, Neurogenic, which is sponsoring the research, announced.

The study (NCT03822650), underway at the University of Rochester Medical Center in New York City, is still recruiting CLN5 patients of all ages, Neurogene said in a statement provided to Batten Disease News. Registration information is available here and by calling the Neurogene Contact Center at 866-461-8237.

It aims to enroll a total of 30 people, from children to adults with genetically confirmed CLN5 or CLN7 disease.

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People participating in the natural history study can still participate, if they are eligible, in potential trials of gene therapies that Neurogene is developing for CLN5 and CLN7, the company said. An application to initiate a gene therapy trial in CLN5 patients is expected to be filed by the end of the year.

“The study of natural history is an important first step on our path to initiate” this trial, Neurogene said. “We will compare the data from the natural history study to data from children who received gene therapy during the clinical trial, to assess whether the CLN5 gene therapy treatment we are studying is effective or improves performance. condition of patients. “

The favorable results of this comparison “could help meet regulatory requirements” in the United States and Europe that are necessary for “the approval of a gene therapy treatment for CLN5,” the company added.

CLN7 patients participating in the remote study may continue to do so, but will be encouraged to make occasional in-person visits for assessments that would not be possible otherwise.

CLN5 and CLN7 are rapidly progressing forms of Batten, a rare and serious disease. They are due to defects in CLN5 and CLN7/MFSD8 genes, respectively, and characterized by seizures and progressive loss of motor skills, cognitive abilities and vision.

Study participants undergo several assessments over time to assess disease progression, including electroencephalography (EEG), neuropsychological and ophthalmic tests, and brain MRIs. No intervention will be performed and no experimental treatment will be administered.

Neurogene expects to complete the necessary tests this year to support the opening of a clinical trial in its CLN5 gene therapy, the company’s leading treatment candidate. The United States Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have both commented on the plans for the trial, and Neurogene said it was working with experts from Batten around the world to finalize its design.

If regulatory clearance is given, Neurogene will announce “additional information” on Batten Centers participating in its CLN5 gene therapy study.

The company “is working as quickly as possible to develop a safe and efficient system [genetic] treatment for CLN7, ”he said.

Neurogene plans to begin a preclinical study in a mouse model of CLN7 by the end of the year that will inform a safe and effective dosage for a trial in patients, and evaluate the administration of the treatment to the brain and eye. . Previous preclinical work in CLN5 animal models has shown that gene therapy must also target the eye to prevent blindness.

Enrollment in the natural history study of Batten disease continues, despite these difficult times, ”Neurogene said. “We would like to express our sincere gratitude to the participating families. “


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