Canavan disease is an ultra-rare condition that currently has no FDA-approved therapies, meaning that patients face a severe unmet medical need. BridgeBio Pharma aims to change this with their investigational gene therapy, BBP-812. The company has initiated its Phase 1/2 trial, CANaspire, as they recently announced that the first participant was dosed.
About Canavan Disease
First, we must understand what Canavan disease is. It’s a progressive, fatal disease that falls under the larger group of leukodystrophies, meaning that it damages the growth or maintenance of the myelin sheath, which is the protective covering of neurons. Once this is damaged, the communication between the brain and body is interrupted. This causes symptoms such as:
- Lack of head control
- Seizures
- Blindness
- Deafness
- Paralysis
- Rapidly increasing head circumference
- Trouble swallowing
- Developmental delays
- Reduced visual responsiveness
- Abnormal muscle tone
These symptoms are severe, and most affected individuals pass away by age ten. They are the result of a mutated ASPA gene, which leads to a lack of the aspartoacylase enzyme, which in turn causes deterioration of the brain’s white matter. It is inherited in an autosomal recessive pattern. Unfortunately, there is no treatment for Canavan disease; doctors can only address the specific symptoms.
About CANaspire
This Phase 1/2 trial will be open-label and evaluate the tolerability, safety, and pharmacodynamic activity of BBP-812. This AAV9 gene therapy has already been given to one pediatric patient, with others soon to follow. They will all receive a single dose via IV infusion.
Primary outcomes include change from baseline of central nervous system (CNS) and urine N-acetylaspartate (NAA) levels alongside motor development and function. The initial date readout is expected at some point in 2022.
Looking Forward
Medical professionals and patients alike are very excited about this trial, as it could lead to the first viable treatment for Canavan disease. Preclinical data has already demonstrated that BBP-812 restores motor function and survival. Hopefully, the data from the Phase 1/2 trial follows this trend and is positive.
You can read more about it here.
