Using urine NAA levels to distinguish between mild and typical Canavan disease

A new study shows that urine levels of N-acetylaspartate (NAA), which accumulates in the urine of patients with the autosomal recessive leukodystrophy Canavan disease, can be used to distinguish between mild and typical forms of the disease. The study is published in the peer-reviewed journal Human Gene Therapy. Click here to read the article now.

Canavan disease is caused by loss-of-function mutations in the gene that codes for aspartoacylase (ASPA). The ASPA enzyme catalyzes breakdown of NAA, and so the levels of this substrate in the urine can reflect ASPA activity.

Patients with Canavan disease typically present with profound psychomotor deficit within the first 6 months of life and meet few developmental motor milestones. A subset of patients exhibits a milder form of the disease and are able to achieve more motor function developmental milestones, which may be related to having some residual ASPA activity.

Rachel Williams, from BridgeBio, and coauthors, compared NAA levels in the urine of patients who were diagnosed with either mild or typical Canavan disease. The investigators showed that the average urine NAA levels were lower in individuals with mild compared to typical Canavan disease.

“This has the potential to be a rapid, low cost, and non-invasive way to screen for the incidence and form of CD, which can help with matching the treatment strategy to the disease severity,” says Managing Editor of Human Gene Therapy Thomas Gallagher, PhD, from the University of Massachusetts Chan Medical School.

About the Journal
Human Gene Therapy, the Official Journal of the European Society of Gene and Cell Therapy and eight other international gene therapy societies, was the first peer-reviewed journal in the field and provides all-inclusive access to the critical pillars of human gene therapy: research, methods, and clinical applications. The Journal is led by Editor-in-Chief Terence R. Flotte, MD, Celia and Isaac Haidak Professor of Medical Education and Dean, Provost, and Executive Deputy Chancellor, University of Massachusetts Medical School, and an esteemed international editorial board. Human Gene Therapy is available in print and online. Complete tables of contents and a sample issue are available on the Human Gene Therapy website.

About the Publisher
Mary Ann Liebert, Inc. is a global media company dedicated to creating, curating, and delivering impactful peer-reviewed research and authoritative content services to advance the fields of biotechnology and the life sciences, specialized clinical medicine, and public health and policy. For complete information, please visit the Mary Ann Liebert, Inc. website.