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NCT Number: NCT04768166

Testing Miglustat Administration in Subjects With Spastic Paraplegia 11

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.

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Key information

Conditions

Hereditary Spastic Paraparesis Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies Spastic Paraplegia, Hereditary

Age range

14 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

IRCCS Fondazione Stella Maris

Pisa, PI, 56128, Italy

About this study

We will analyze the safety of Miglustat

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Written signed informed consent;
  • Confirmed diagnosis of SPG11;
  • Age > 13 years;
  • SPRS score ≥ 10 or ≤35;
  • Use of effective contraceptive methods and the performance of pregnancy tests (only fertile subjects).

Exclusion criteria

  • Diagnosis of other concomitant neurodegenerative diseases;
  • Outcomes of severe pre- or peri-natal suffering;
  • Age ≤ 13 years;
  • SPRS score ≥ 35 or ≤10;
  • Hypersensitivity or intolerance to miglustat;
  • Participation in other pharmacological studies within 30 days of the first Study visit (T0);
  • The inability to take the drug;
  • Any additional medical conditions;
  • Subjects with severe renal impairment;
  • Refusal to use effective contraceptive methods and the performance of pregnancy tests (only fertile subjects).

Treatment and study plan

Miglustat 100 MG

Drug

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

Other names: Genorph

Primary outcomes

  1. 1-Changes from baseline blood tests at 24 weeks 2-Changes from baseline neurophysiological tests at 24 weeks 3-Report of severe adverse events

    Time frame: At baseline, 24 weeks

    routine blood test

Secondary outcomes

  1. Changes from baseline GM2/GM3 levels at 24 weeks

    Time frame: At baseline, 24 weeks

    lipid assessments

  2. Assess changes in the scores of the Spastic Paraplegia Rating Scale (SPRS) at 24 weeks

    Time frame: At baseline, 24 weeks

    SPRS rates disease severity (0-52) with lower numbers indicating less impairement

Sponsors and collaborators

Lead sponsor

IRCCS Fondazione Stella Maris

Other

Registry information

Official study title

Phase 2 Pharmacological Trial to Evaluate the Safety of Miglustat Administration in Subjects With Spastic Paraplegia 11 (TreatSPG11)

Acronym: TreatSPG11

Important dates

Study start
2021
Primary completion
2021
Study completion
2021
First posted
Feb 24, 2021
Registry last updated
Apr 11, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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