Neurogene, which works to provide treatments for rare neurological disorders, has recently joined with Behind the Seizure. Behind the Seizure was established by two other companies, BioMarin and Invitae, with the purpose of bettering the diagnostic techniques for children with Batten disease. This effort allows healthcare providers to test children under the age of eight who have had an unprovoked seizure.
About Batten Disease
Batten disease is also known as neuronal ceroid lipofuscinosis (NCL). It is a rare nervous system disorder linked to an accumulation of lipopigments in the body tissue, making it a lysosomal storage disorder. This buildup causes neuron death in the brain, retinas, and central nervous system. There are multiple forms of this disease, varying in severity and age of onset.
The symptoms include seizures, visual impairments, dementia, personality and behavior changes, loss of motor skills, and the loss of the ability to walk, talk, and communicate. Vision loss is often the way that Batten disease is diagnosed; doctors will notice during an eye exam. This exam is followed by a clinical evaluation, an evaluation of clinical history, and lab tests. These tests include blood and urine tests, skin and tissue sampling, EEGs, electrical studies of the eyes, imaging tests, and enzyme activity measuring.
There is no known cure for Batten disease, and treatment is symptomatic. Treatment consists of anticonvulsant drugs, cerliponase alfa, physical and occupational therapy, and vitamins C and E.
About Behind the Seizure
If a child is under the age of eight and has experienced an unprovoked seizure, Behind the Seizure aims to conduct a genetic test to no cost to patients and healthcare providers in the United States and Canada. The goal is to diagnose children earlier, especially those who have rare forms of Batten disease: CLN5 and CLN7.
An earlier diagnosis allows for earlier treatment, which is typically more effective. Those affected by Batten disease will also receive an explanation for the symptoms they have experienced which often provides a sense of relief.
Other companies have joined the effort, including Biogen, Encoded Therapeutics, Xenon Pharmaceuticals, Stoke Therapeutics, Praxis Precision Medicines, and PTC Therapeutics.
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