Batten disease is a lysosomal storage disorder. It’s neurodegenerative, meaning it results in the deterioration of neurons. One of the most common forms of this disease is caused by mutations in the tripeptidyl peptidase 1 gene (TPP1). This particular form is called CLN2 or late-infantile neuronal ceroid lipofuscinosis type 2.
There are currently only two treatment options for CLN2 and no cure. Patients may be prescribed enzyme replacement therapy and palliative care. However, a new treatment has just been given orphan drug designation, bringing new hope to the batten disease community.
RGX-181
REGENXBIO is responsible for creating the drug RGX-181. It uses a vector to deliver TPP1 to the central nervous system, restoring proper levels of the healthy gene in the body.
Not only do researchers believe that this drug could potentially reduce/eliminate many of the symptoms of this disease, they believe it could correct the mutation itself. This would stop the disease from progressing, and ultimately cure the patient of the condition.
REGENXBIO hopes to apply for FDA approval of the drug and begin a clinical trial to further determine its efficacy in 2019.
The Potential
Animal studies of the drug have shown extremely positive results. Not only was the drug able to restore proper levels of the TPP1 gene, the level of it’s activity became greater in animals with CLN2 than those who were not affected by the disease.
The Orphan Drug Designation of RGX-181 signifies progress and provides hope. If the future clinical trials of the drug prove it to be effective, it could be life-changing for batten disease patients. Not only would it be a one time treatment, but it truly has curative potential.
Make sure to stay tuned for future updates on the approval of this drug!
In the meantime, you can read more about its development and its orphan drug designation here.
