Hereditary Spastic Paraplegia, Spastic Paraplegia Type 11
Conditions
Brief summary
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
Detailed description
Several experiments on subjects affected by neurodegenerative diseases with dysfunction of the autophagic-lysosomal system show that trehalose improves the pathological phenotype. This evidence indicates that trehalose could be used in patients with SPG11 to try to prevent the accumulation of glycosphingolipids at the lysosomal level and induce the genesis of new lysosomes. This study aims to record clinical data of 20 patients with SPG11 who take trehalose during 12 months.
Interventions
None listed
Sponsors
IRCCS Fondazione Stella Maris
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
10 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Confirmed diagnosis of SPG11 * Written signed informed consent
Exclusion criteria
* Diagnosis of other concomitant neurodegenerative diseases * taking other experimental drugs within 30 days of the first Study visit (T0) and during the study * Refusal to sign informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Changes from baseline in Spastic Paraplegia Rating Scale (SPRS) at 6 and 12 months | At baseline, month 6, month 12 | Assess changes in score of the Spastic Paraplegia Rating Scale (SPRS) over ± 10% |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Changes in glycosphingolipids and gangliosides plasmatic levels | At baseline, month 6, month 12 | Assess changes in glycosphingolipids and gangliosides plasmatic levels over ± 10% |
Countries
Italy
Outcome results
None listed