According to a story from globenewswire.com, gene therapy, a current hot topic in the medical field, is continuing to make headlines. The drug company Amicus Therapeutics recently announced that a trial of its gene therapy program (licensed from the Abigail Wexner Research Institute) has displayed encouraging results so far. These interim results from the phase 1/2 trial appear to indicate that AAV-CLN6 could be an effective treatment for the CLN6 variant of Batten disease, a rare and typically fatal genetic disease.
About Batten Disease
Batten disease is a nervous system disorder that tends to appear between the ages of five and ten years. This neurodegenerative disease is usually caused by mutations which affect the CLN3 gene. The CLN6 variant of the illness, which appears in late infancy, is distinguished by which gene is affected (CLN6). Girls tend to display symptoms later than boys, but their disease tends to progress more rapidly. Diagnosis is often difficult. Symptoms include seizures, vision problems, repetitive speech, learning regression or delays, scoliosis, decreased muscle and body fat, changes to personality and behavior, poor coordination, and speech loss. Symptoms generally progress over time. There is only one drug for Batten disease that can slow progression, but it is only effective in certain cases. Most treatment is supportive, and the disease is ultimately lethal. There is a dire need for more effective therapies to improve survival times and outcomes for patients with Batten disease. To learn more about Batten disease, click here.
Stopping CLN6 in its Tracks
Eight patients have been treated with the gene therapy so far, which is intended to require only a single administration, much like currently approved gene therapies. So far, seven of these patients appear to have had their symptoms stabilize two years after administration of AAV-CLN6. Motor and language ability were superior to what would be expected in the natural course of the disorder.
Generally, these findings suggest that this gene therapy can successfully halt the progression of CLN6 Batten disease. While the final results of the study have yet to be gathered, the results so far are certainly encouraging and suggest that early intervention with AAV-CLN6 could prevent patients from experiencing serious progression of symptoms.