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Testing Miglustat Administration in Subjects With Spastic Paraplegia 11

NCT04768166 · Status: COMPLETED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 10

Last updated 2022-04-11

No results posted yet for this study

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.

Conditions

  • Hereditary Spastic Paraparesis

Interventions

DRUG

Miglustat 100 MG

100mg/TID in 4w then 200mg/TID in 8 w

Sponsors & Collaborators

  • IRCCS Fondazione Stella Maris

    lead OTHER

Principal Investigators

  • Filippo M Santorelli, MD PhD · IRCCS Stella Maris

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
14 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-06-15
Primary Completion
2021-08-30
Completion
2021-09-15

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04768166 on ClinicalTrials.gov