Aspartoacylase
Locus NM_000049
Definition: Homo sapiens aspartoacylase (Canavan disease)
Significance
Canavan disease is a childhood leukodystrophy caused by mutations in the gene for human aspartoacylase which leads to an abnormal accumulation of the substrate molecule N-acetyl-aspartate (NAA) in the brain. See iHOP - ASPA aspartoacylase (Canavan disease)
Commercial uses
- Genetic test to identify carriers of ASPA mutations
Test providers:
Ambrygen
Delphitest Scientific
Licensing
US 5,679,635 and US 7,217,547 are owned by Miami Children’s hospital who license and collect royalty fees for clinical testing for the Canavan gene mutation
Legal
- Greenberg et al. v. Miami Children's Hospital Research Institute et al.
A lawsuit was filed in Federal District Court in Chicago on October 30, 2000, against Miami Children’s Hospital and Dr. Reuben Matalon (inventor of US 5,679,635 and US 7,217,547) on behalf of families afflicted with Canavan disease, the Canavan Foundation, Dor Yeshorim, and the National Tay-Sachs and Allied Diseases Association (NTSAD). The six-count lawsuit, the first of its kind, alleged breach of informed consent, breach of fiduciary duty, unjust enrichment, fraudulent concealment, conversion, and misappropriation of trade secrets.
Patents
| Patent number | Owner | Issue date | Expiration date | Claims |
| US 5,679,635 | MCH | Oct. 21, 1997 | cell-content | cell-content |
| US 7,217,547 | MCH | May 15, 2007 | cell-content | cell-content |
| cell-content | cell-content | cell-content | cell-content | cell-content |
| cell-content | cell-content | cell-content | cell-content | cell-content |
