rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease
Status:
Recruiting
Trial end date:
2024-03-31
Target enrollment:
Participant gender:
Summary
Canavan Disease is a congenital white matter disorder caused by mutations to the gene
encoding for aspartoacylase (ASPA). Expression of ASPA is restricted to oligodendrocytes, the
sole white matter producing lineage in the brain. ASPA supports developmental myelination in
the capacity of its sole known function, namely, the catabolism of N-acetylaspartate (NAA).
Inherited mutations that result in loss of ASPA catabolic activity result in a typically
severe phenotype characterized by chronically elevated brain NAA, gross motor abnormalities,
hypomyelination, progressive spongiform degeneration of the brain, epilepsy, blindness and a
short life expectancy. Disease severity is correlated with residual levels of enzyme
activity. Reconstitution of ASPA function in oligodendrocytes of the brains of Canavan
patients is expected to rescue NAA metabolism in its natural cellular compartment and support
myelination/remyelination by resident white matter producing cells. This protocol directly
targets oligodendrocytes in the brain, which are intimately involved with disease initiation
and progression. Targeting oligodendrocytes offers the safest and most direct therapy for
affected individuals.
The latest generation AAV viral vector (rAAV-Olig001-ASPA) will be administered to patients
using a minimally invasive neurosurgical procedure which involves direct administration of
gene therapy to affected regions of the brain. Outcome measures for the open label clinical
trial include longitudinal clinical assessments and brain imaging.
Currently, there is no effective treatment for Canavan Disease. The purpose of this study is
to validate a new technology targeted to the cells most affected by Canavan Disease in the
safest way possible.
The study investigators are committed to supporting the Rare Disease & Canavan Disease
Communities. For more information, please contact Jordana Holovach, Head of Communications
and Community at [email protected].