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

IRCCS Fondazione Stella Maris13 enrolled

Overview

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

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Hereditary Spastic Paraplegia Spastic Paraplegia Type 11

Eligibility

Sex: ALLMin age: 10 Years

Medical Language ↔ Plain English

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

Locations (1)

IRCCS Fondazione Stella Maris

Pisa, PI, Italy

Outcomes

Primary Outcomes

Changes from baseline in Spastic Paraplegia Rating Scale (SPRS) at 6 and 12 months

Assess changes in score of the Spastic Paraplegia Rating Scale (SPRS) over ± 10%

Time frame: At baseline, month 6, month 12

Secondary Outcomes

Changes in glycosphingolipids and gangliosides plasmatic levels

Assess changes in glycosphingolipids and gangliosides plasmatic levels over ± 10%

Time frame: At baseline, month 6, month 12

Data from ClinicalTrials.gov

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