Florian Eichler, MD, on Addressing Unmet Needs in Canavan Disease With Gene Therapy

“I think for the general practitioner, or the neurologist, who might be seeing these kinds of patients: early identification is key. There are now trials that are available that are delivering safely a healthy copy of the gene. This has the potential to really allow for some of these children to attain milestones that have never been seen before. But it all requires timely diagnosis and referral to trial sites.”

Canavan disease is a devastating inherited condition caused by mutations in a single gene: the ASPA gene, which encodes an enzyme responsible for breaking down N-acetylaspartate (NAA). Children with Canavan disease develop destructive white matter lesions and typically do not meet developmental milestones. Currently there are no disease-modifying treatments approved for Canavan disease. As such, great unmet need remains for this patient population.

Florian Eichler, MD, a neurologist at Massachusetts General Hospital, gave a presentation entitled “Initial Biomarker and Clinical Findings from the CANaspire Canavan Disease Gene Therapy Trial: Exploration of Connections between NAA and Disease Severity” at the American Society of Gene and Cell Therapy (ASGCT) 2023 Annual Meeting, held May 16-20, in Los Angeles, California. The presentation covered biomarker data from the phase 1/2 CANaspire clinical trial (NCT04998396), which is evaluating BBP-812, an investigational adeno-associated virus (AAV) vector-based gene therapy intended to treat Canavan disease.

In an interview with CGTLive™, Eichler discussed the unmet needs in Canavan disease and how BBP-812 could potentially provide a transformative new treatment option for patients with the disease. He noted that the 6 children treated with BBP-812 in CANaspire have shown dramatic reductions in NAA levels in urine and highlighted behavioral observations of 1 patient who has begun sitting independently and taking steps. Eichler also discussed the challenge posed by immune responses to the AAV vector and concluded by emphasizing the importance of early diagnosis and newborn screening for conditions like Canavan disease.

REFERENCE

Eichler F, Nagy A, Laforet G, et al. Initial biomarker and clinical findings from the CANaspire canavan disease gene therapy trial: exploration of connections between NAA and disease severity. Presented at: American Society of Gene and Cell Therapy (ASGCT) 2023 Annual Meeting. May 16-20, 2023; Los Angeles, CA. Abstract #358.