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Neurogene Initiates Natural History Study of Aspartylglucosaminuria (AGU)

Key data now being collected to support endpoint assessment for future gene therapy clinical trial

NEW YORK, April 23, 2019 – Neurogene Inc., a company founded with a mission to bring life-changing medicines to patients and families affected by rare neurological diseases, today announced that it has enrolled the first patient in a natural history study of aspartylglucosaminuria (AGU), a rare neurodegenerative lysosomal storage disorder. The goal of the study is to provide important data to support a future gene therapy clinical trial. The potential therapy is being investigated under a collaboration agreement between Neurogene and UT Southwestern Medical Center and is one of multiple sponsored agreements.

Lysosomal storage disorders are a group of diseases resulting from defects in lysosomal enzyme function. Lysosomes are cellular organelles responsible for the digestion of molecules. Defective or absent lysosomal enzyme function leads to intracellular accumulation of substrate molecules, which, in turn, lead to toxicity and cell death. AGU is caused by a deficiency of the aspartylglucosaminidase (AGA) enzyme, which leads to toxic accumulation of N-acetylglucosamines and cellular dysfunction. AGU typically presents in childhood with developmental delay. With disease progression, patients experience psychomotor regression, worsening gait disturbance, behavioral and emotional issues, and worsening intellectual disability. People with AGU have a shortened lifespan, with mortality typically in the fourth decade.

“This is an exciting time for people with AGU and their families,” said Kimberly Goodspeed, M.D., Assistant Professor at UT Southwestern Medical Center and lead investigator of the study. “This study will collect the first prospective data from AGU patients, which will be foundational for developing a potential therapy for this under-served neurodegenerative disease.”

“With the UT Southwestern Medical Center team, Neurogene is working to better understand the progression of AGU and what endpoints could be used in our future gene therapy trial,” said Effie Albanis, M.D., Neurogene’s Chief Medical Officer. “We are taking a streamlined approach to clinical development to facilitate the fastest possible approval timeline for a future gene therapy medicine, consistent with our belief that patients should not be waiting longer than necessary for life-altering medicines.”

About the natural history study

Neurogene Inc. is sponsoring a longitudinal, prospective, observational natural history and outcome measure discovery study into which approximately 20 patients with genetically confirmed AGU will be enrolled. Patients, who are currently being enrolled at UT Southwestern Medical Center, will undergo multiple assessments including MRI of the brain, neuropsychological testing and ophthalmological evaluation. Each patient will be followed for up to five years. Kimberly Goodspeed, M.D., Assistant Professor at UT Southwestern Medical Center, is the lead investigator.  For additional information about the trial, please visit www.clinicaltrials.gov, NCT03853876.

About Neurogene Inc.

Neurogene Inc. was founded to bring life-changing medicines to patients and families affected by rare neurological disorders. We partner with leading academic researchers, patient advocacy organizations and caregivers to bring therapies to patients that address the underlying genetic cause of a broad spectrum of neurological diseases where no effective treatment options exist today. Our lead programs use AAV-based gene therapy technology to deliver a normal gene to patients with a dysfunctional gene. Neurogene is also investing in novel technology to develop treatments for diseases not well served by gene therapy. For more information, visit www.neurogene.com

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