Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
Status:
Not yet recruiting
Trial end date:
2021-09-15
Target enrollment:
Participant gender:
Summary
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that
produces spatacsin, a protein involved in lysosomal function. Studies performed in skin cells
(fibroblasts) from SPG11 patients, mice and zebrafish models of the disease showed that the
material accumulated in the lysosomes is made of glycosphingolipids (GSL).
Miglustat is a drug that inhibits an enzyme called glucosylceramide synthetase (GCS) which is
used for the production of GSL. Miglustat, therefore, helps to delay the production of GSL.
This study aims to collect preliminary data on the safety of miglustat on the SPG11 disease
and to assess biomarkers.