There are 13 different forms of Batten Disease defined by the medical community. Each presents similarly but there are differences in the severity of symptoms as well as the age of onset. The condition can cause learning disabilities, a progressive loss of mobility, difficulties with communication, seizures, changes in personality, and vision loss among other symptoms. Batten Disease eventually results in immobility and premature death.
There is clearly an unmet need for effective treatment options for this condition. However, researchers are making strides towards gene therapy for the disease.
Amicus Therapeutics has just announced that their potential gene therapy for Batten Disease, type CLN3, is the second to be entering clinic. Their Phase 1/2 trial will be held at the Nationwide Children’s Hospital for Neurologic Lysosomal Storage Disorders and it is currently recruiting patients.
Amicus Therapeutics’ new trial is specifically for CLN3 Batten disease which is the most common of the 13 types. It is estimated to affect around 5,000 individuals. The condition is a result of a mutation in the CLN3 gene. The company will be examining the efficacy and safety of one administration of AAV9-CLN3 in children with the condition.
The first patient to receive the therapy had no serious adverse events one month following treatment which is encouraging for the safety profile of this type of treatment.
The trial plans to enroll children age 3 to 10 with CLN3. Participants will be divided into two groups. One will receive a low dose of the therapy and one will receive a high dose. Both groups will receive the dose through intrathecal administration. The study will last three years, throughout which interim data of safety and efficacy will be reported. The hospital will utilize the physical disability subscale of the Unified Batten Disease Rating Scale to analyze the data. This Phase 1/2 trial should be completed by December of 2022.
You can read more about the specifics of this trial and how to enroll here.
You can also read an overview about Amicus Therapeutics and their work on this new trial here.