Neurogenic sponsors a natural history study to better understand the course of CLN5 and CLN7 Batten disease, two forms of late childhood Batten disease, and finding meaningful ways to measure patient outcomes for use in gene therapy trials.
The study is being conducted as part of a collaboration between Neurogene and UT Southwestern Medical Center (UTSW).
“CLN7 and CLN5 are devastating and serious neurological diseases, and there is currently no cure for them,†said Berge Minassian, MD, division chief of childhood neurology at UT Southwestern Medical Center, in a statement. Press release.
“Thanks to this study, and thanks to those in the Batten Disease community who have chosen to participate, we will soon know a lot more about how the disease affects those who have it so that we can help the many children in the area. the need.”
Batten’s disease, also called neuronal ceroid lipofuscinosis (NCL), is a group of rare inherited neurological diseases caused by mutations that disrupt a cell’s ability to get rid of wastes. This leads to a build-up of toxic deposits made up of fats and proteins, called lipofuscins, in body tissues, particularly in nerve cells in the brain and cells in the eye, as well as in skin and other tissues.
CLN5 and CLN7 are rare, pediatric and rapidly progressive forms of the disease caused by abnormalities of the CLN5 and CLN7/MFSD8 genes, respectively.
These types of late childhood Batten disease are marked by seizures, progressive deterioration of motor and cognitive skills, vision loss, and premature death.
The aim of the natural history study of Neurogene (NCT03822650) is to study the clinical features and the natural progression of symptoms. This is an observational study, which means that no intervention will be performed and no experimental therapy will be given to the participants.
The study plans to recruit 30 patients with genetically confirmed CLN5 or CLN7 disease, a mix of children and adults. Participants will undergo several assessments over time to address the course of the disease, including electroencephalography or EEG, neuropsychological and ophthalmological assessments, and brain MRI scans.
Its principal investigator is Saima Kayani, MD, professor of pediatric neurology at UTSW. Registration is ongoing at UT Southwestern Medical Center in Dallas, and additional information is available here.
“Neurogene is committed to reimagining the future of people with rare neurological diseases,†said Effie Albanis, MD, chief medical officer of Neurogene. “This natural history study of CLN7 and CLN5 will be instrumental in the design of gene therapy to treat these rare forms of Batten disease.”
