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A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease


Brief Summary

This is a 12-month, parallel treatment, Phase 3, double-blind, randomized, placebo controlled study to evaluate the effect of venglustat on neuropathic and abdominal pain symptoms of Fabry disease in participants ≥16 years of age with Fabry disease who are treatment-naïve or untreated for at least 6 months.

  • Study visits will take place approximately every 3 months.
  • The double-blind period will be followed by an open-label extension (OLE) during which participants who have completed the double-blind period will be treated with venglustat for up to an additional 12 months.
Primary Purpose
Study Type
Phase 3


Healthy Volunteers
Minimum Age
16 Years
Maximum Age

Inclusion Criteria:

  • Male and female adult patients 16 year of age or older, who have had a previously confirmed diagnosis of Fabry disease and a history of clinical symptoms of Fabry disease
  • Patients who are treatment-naïve or without prior treatment with an approved or experimental therapy for Fabry disease within at least 6 months prior to screening.
  • Average score of ≥3 (0=no symptom, 10=symptom as bad as you can imagine) on the participant-defined most-bothersome symptom (among neuropathic pain in upper extremities, neuropathic pain in lower extremities, or abdominal pain), as measured by the Fabry Disease Patient-Reported Outcome (FD-PRO) at screening.
  • Contraception (with double contraception methods) for male and female participants; not pregnant or breastfeeding for female participants; no sperm donation for male participants.
  • Weight ≥30 Kg
  • A signed informed consent must be provided prior to any study-related procedures.

Exclusion Criteria:

  • Any manifestations of Fabry disease that preclude placebo administration.
  • History of transient ischemic attack, stroke, myocardial infarction, heart failure, evidence of left ventricular hypertrophy and/or cardiac fibrosis, major cardiovascular surgery, or kidney transplantation.
  • History of clinically significant cardiac arrhythmia. Atrial fibrillation that is well controlled on a stable medical regimen for at least 12 months is not an exclusion if the CHA2DS2-VASc score is 0 for males or 1 for females.
  • Patients with hepatitis C, HIV, or hepatitis B infection.
  • Neuropathic pain in upper or lower extremities, or abdominal pain not related to Fabry disease.
  • History of seizures currently requiring treatment.
  • Uncontrolled hypertension over the past 12 months prior to screening, or systolic BP >=150 or diastolic BP >=100 at screening.
  • Estimated glomerular filtration rate <60 mL/min/1.73m².
  • Urine protein to creatinine ratio >= 1 g/g at screening.
  • Presence of severe depression as measured by Beck's Depression Inventory (BDI)-II >28 and/or a history of an untreated, unstable major affective disorder within 1 year of the screening visit.
  • Positive SARS-CoV-2 virus test within 2 weeks of enrollment, or COVID 19 requiring hospitalization within 6 months of enrollment.
  • Moderate to severe hepatic impairment.
  • History of drug and/or alcohol abuse.
  • History of or active hepatobiliary disease.
  • Liver enzymes (alanine aminotransferase (ALT)/aspartate aminotransferase (AST)) or total bilirubin >2 times the upper limit of normal (ULN).
  • Initiation of chronic treatment for pain, or change in pain medication regimen, within 3 months prior to randomization.
  • Strong or moderate inducers or inhibitors of cytochrome P450 3A within 14 days or 5 half-lives, whichever is longer, prior to randomization. The above information is not intended to contain all considerations relevant to a potential participation in a clinical trial.

Join this Trial

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Study Stats
Protocol No.
Genetic and Rare Diseases
Principal Investigator
Josh Ooka
  • UCLA Westwood
For Providers
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