Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)

IRCCS Fondazione Stella Maris

Status: Completed

Conditions: Hereditary Spastic Paraplegia; Spastic Paraplegia Type 11

Study type: Observational

Funder types: Other

Identifiers

NCT04912609

3AL-SPG11

Details and patient eligibility

About

Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.

Full 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.

Enrollment: 13 patients

Sex: All

Ages: 10+ years old

Volunteers: No Healthy Volunteers

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