The Canavan Disease Natural History Study, CANInform, is enrolling. Visit www.treatcanavan.com for more information.
Canavan disease is an extremely rare genetic disease that begins in infancy and progresses rapidly. While symptoms vary, many patients experience lack of head control, lack of muscle tone (often resulting in floppiness or spasticity) and seizures. Most children are not able to meet developmental milestones, and are unable to crawl, walk, sit or talk. Many pass away before the age of 20.
The disease is caused by an inherited mutation of the ASPA gene, which codes for a protein that breaks down NAA. When NAA levels get too high, it becomes toxic to myelin in ways that are not well understood. Myelin insulates the nerves, and without it, neurons are unable to send and receive messages as they should. The condition also affects important metabolic processes.
Canavan disease has an autosomal recessive pattern of inheritance, which means that a child with the disease inherited a copy of the mutated gene from each parent. In autosomal recessive conditions, parents are carriers of the gene, but generally do not experience the symptoms of the disease.
Currently, there are no approved therapies for Canavan disease. The current standard of care is limited to supportive therapy. Aspa Therapeutics has partnered with the University of Massachusetts Medical School to advance their gene therapy program for Canavan disease and pursue a clinical trial.
We understand that families who are coping with Canavan disease are highly concerned about their affected family member or members and are keenly interested in updates on our gene therapy program as well as other research in this area. We believe that the best way for families to stay up to date is by contacting our partners in the patient advocacy community, notably the Canavan Foundation, Canavan Research Illinois and the National Tay-Sachs & Allied Diseases Association. We will keep these organizations up to date on our progress in developing the gene therapy, thereby keeping the Canavan community up to date.
CANaspire, Aspa’s investigational gene therapy trial for patients with Canavan disease, is now enrolling. Families can call 1-833-764-2267 (toll-free) or 1-617-861-4617 or email [email protected] to reach a trial representative.
Canavan disease is one of a group of genetic brain disorders known as leukodystrophies. The disease comes as a result of mutations to the ASPA gene, which is responsible for creating an enzyme called aspartoacylase.
In healthy individuals, aspartoacylase breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is found predominately found in neurons. But with a defective ASPA gene, NAA is not broken down properly and builds up in the brain. Through mechanisms that are not well understood, this buildup causes demyelination, or a loss of the myelin sheath that insulates and contributes to the proper functioning of neurons.
Aspa Therapeutics is working to create the first-ever approved treatment for Canavan disease. Using adeno-associated virus (AAV) gene therapy, we seek to deliver functional copies of the ASPA gene throughout the body and into the brain, correcting the disease. Our gene therapy was developed by Guangping Gao, Ph.D and Dominic J. Gessler, M.D. at the University of Massachusetts Medical School. Dr. Gao, a pioneer in AAV gene therapy, was also the first person to clone the ASPA gene in 1993, and has been working on developing a cure Canavan disease for over 25 years.
AAV gene therapy has been safely tested in many other clinical trials for rare diseases. Proof-of-concept work in Canavan disease mouse models has shown that our approach restores survival and normal motor function in these mice.
A portion of a healthy functioning NAA metabolic pathway.
Changes in the NAA pathway as a result of Canavan disease.
Aspa Therapeutics, a subsidiary of BridgeBio Pharma, is a biotechnology company focused on developing a treatment for Canavan disease, a devastating inherited condition without an FDA-approved therapy. Aspa is led by a team of veteran biotechnology executives. Together with patients and physicians, the company aims to bring a safe and effective treatment for Canavan disease to patients as quickly as possible.
BridgeBio is a team of experienced drug discoverers, developers and innovators working to create life-altering medicines that target well-characterized genetic diseases at their source. BridgeBio was founded in 2015 to identify and advance transformative medicines to treat patients who suffer from Mendelian diseases, which are diseases that arise from defects in a single gene, and cancers with clear genetic drivers. BridgeBio’s pipeline of over 20 development programs includes product candidates ranging from early discovery to late-stage development.
Aspa is committed to education and awareness. View recent scientific publications, presentations and posters below:
Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease
Gessler DJ, Li D, Xu H, et al.
JCI Insight. 2017;2(3):e90807.
rAAV Gene Therapy in a Canavan’s Disease Mouse Model Reveals Immune Impairments and an Extended Pathology Beyond the Central Nervous System
Ahmed SS, Schattgen SA, Frakes AE, et al.
Mol Ther. 2016;24(6):1030-1041.
A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in Canavan mice
Ahmed SS, Li H, Cao C, et al.
Mol Ther. 2013;21(12):2136-47.
View the February 2, 2022 webinar:
Aspa’s Approach to Gene Therapy for Canavan Disease: A Closer Look at the Science
View the September 30, 2021 webinar:
Update on Gene Therapy for Canavan Disease
2021 NTSAD Aspa Presentation
Part 1: Natural History Study
2021 NTSAD Aspa Presentation
Part 2: Aspa Gene Therapy Program
EveryLife Foundation
Annual Scientific Workshop
September 5, 2019
Washington, D.C.
51st Child Neurology Society
Annual Meeting
CANinform Natural History Study
October 12-15, 2022
51st Child Neurology Society
Annual Meeting
CANaspire Investigational
Gene Therapy Study
October 12-15, 2022
49th CNS Annual Meeting
October 12-23, 2020
48th Annual Meeting of the
Child Neurology Society
October 23-26, 2019
Charlotte NC
European Society for Gene
and Cell Therapy
October 22-25, 2019
Barcelona, Spain
Congress for Pediatrics and
Adolescent Medicine
(Pediatric Neurology focus)
September 11-14, 2019
Munich, Germany
421 Kipling St.
Palo Alto, CA 94301
For any patient-related inquiries, please email [email protected].
