A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease

A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry Disease

A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease. This study includes a sub-study evaluating kidney Gb3 inclusions (and other histologic lesions) in male participants with classic Fabry disease who have been treated for at least 2 years with lucerastat monotherapy in study ID-069A302.

Study Overview

• Status: Active, not recruiting
• Conditions: Fabry Disease
• Intervention / Treatment: Drug: Lucerastat

Detailed Description

Study ID-069A302 will continue at each site until lucerastat is commercially available in the respective country, or until all subjects have (prematurely) discontinued the trial, or until the sponsor terminates the study, whichever is earliest.

Note that, in Europe (local protocol amendment), the maximum individual study participation is up to Month 96.

• Study Type: Interventional
• Enrollment (Estimated): 107
• Phase: Phase 3

Contacts and Locations

Study Locations

• Australia
  • Parkville, Australia, 3050
    • Royal Melbourne Hospital - Department of Nephrology
  • Perth
    • Perth, Perth, Australia, 6000
      • Royal Perth Hospital, Department of Nephrology
• Austria
  • Vienna, Austria, 1090
    • Medizinische Universität Wien, Universitätsklinik für Innere Medizin III, Klinische Abteilung für Nephrologie und Dialyse
• Belgium
  • Ghent, Belgium, 9000
    • University Hospital Ghent (UZ Ghent)
  • Leuven, Belgium, 3000
    • University Hospital Gasthuisberg, Leuven (UZ Leuven)
• Canada
  • Calgary, Canada, T2N 4Z6
    • University of Calgary - Heritage Medical Research Clinic
  • London, Canada, N6A 5W9
    • London Health Sciences CTR, Victoria Hospital
  • Montreal, Canada, H4J 1C5
    • Research Center, Hôpital du Sacré-Coeur de Montréal
  • Vancouver, Canada, V5Z 1M9
    • Vancouver General Hospital - Adult Metabolic Diseases Clinic
  • Winnipeg, Canada, R3E 3P4
    • Children's Hospital Research Institute of Manitoba
• France
  • Garches, France, 92380
    • Raymond Poincaré Hosp - Med Genetics Dept
• Germany
  • Berlin, Germany, 10117
    • Universitätsmedizin Berlin - Charité Campus Mitte
  • Höchheim, Germany, 65239
    • SphinCS GmbH
  • Müllheim, Germany, 79379
    • Nephrologicum Markgräflerland MVZ GmbH
  • Würzburg, Germany, 97080
    • Universitätsklinikum Würzburg
• Netherlands
  • Amsterdam, Netherlands, 1105 AZ
    • Hospital Academisch Medisch Centrum - Department of Internal Medicine, Div. Endrocrinology and Metabolism
• Norway
  • Bergen, Norway, 5021
    • Haukeland University Hospital
• Poland
  • Krakow, Poland, 31-066
    • Clinic of Immunological Diseases and Blood Coagulability Cracow University Hospital
  • Warsaw, Poland, 04-628
    • Narodowy Instytut Kardiologii Stefana kardynała Wyszyńskiego - Państwowy Instytut Badawczy
  • Warsaw, Poland, 04-730
    • The Children's Memorial Health Institute, Department of Pediatric, Nutrition and Metabolic Diseases
• Spain
  • Barcelona, Spain, 08035
    • Vall d'Hebron University Hospital - Unit of Inherited Metabolic Disorders and Rare Diseases
  • Barcelona, Spain, 08907
    • Hospital Universitari de Bellvitge / Nephrology Dpt
  • Madrid, Spain, 28034
    • Hospital Universitario Ramon y Cajal. Servicio de Medicina Interna
  • Zaragoza, Spain, 50012
    • Hospital Quironsalud Zaragoza
• Switzerland
  • Zurich, Switzerland, 8032
    • Psychiatrische Universitätsklinik Zürich
• United Kingdom
  • London, United Kingdom, WC1N 3BG
    • National Hospital For Neurology and Neurosurgery
  • London, United Kingdom, NW3 2QG
    • Royal Free London NHS Foundation Trust Lysosomal Storage Disorder Unit; Department of Hematology
  • Manchester, United Kingdom, M6 8HD
    • Salford Hospital
• United States
  • Alabama
    • Birmingham, Alabama, United States, 35294
      • University of Alabama at Birmingham - Nephrology Research Clinic
  • California
    • Irvine, California, United States, 92697
      • University of California Irvine
    • Oakland, California, United States, 94609
      • UCSF Benioff Children's Hospital Oakland
  • Florida
    • Gainesville, Florida, United States, 32610
      • University of Florida Clinical and Translational Science Institute, UF Clinical Research Center
  • Illinois
    • Chicago, Illinois, United States, 60612
      • Rush University Medical Center - Dept of Pediatrics
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • University of Iowa Stead Family Children's Hospital - Division of Medical Genetics
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts General Hospital
  • Michigan
    • Grand Rapids, Michigan, United States, 49525
      • Infusion Associates
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • University of Pennsylvania - Dept of Medicine
  • South Carolina
    • Greenville, South Carolina, United States, 29605
      • Greenwood Genetics Center
  • Texas
    • Dallas, Texas, United States, 75204
      • Renal Disease Research Institute LLC
    • Dallas, Texas, United States, 75246
      • Baylore University Medical Center
  • Utah
    • Salt Lake City, Utah, United States, 84108
      • University of Utah - Division of Medical Genetics, Clinical Genetics Research
  • Virginia
    • Fairfax, Virginia, United States, 22030
      • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Signed ICF prior to any study-mandated procedure;
• Subject completed the 6-month, double-blind treatment period in study ID 069A301
• Woman of childbearing potential only if agreement 1) to follow a specified contraception scheme, 2) to undertake monthly urine pregnancy tests.
• Fertile male only if agreement 1) to use a condom, 2) to not father a child.

Exclusion Criteria:

• Pregnant / planning to be become pregnant or lactating subject;
• Subject considered to be at high risk of developing clinical signs of organ involvement within the time period of the study, as per investigator judgment;
• Any known factor or disease that might interfere with treatment compliance, study conduct or interpretation of the results as per investigator judgment.

In addition, the subject must not be enrolled in study ID-069A302 if at any time during study ID-069A301, one of the following criteria was met:

• Subject's eGFR per the Chronic Kidney Disease Epidemiology Collaboration creatinine equation < 15 mL/min/1.73 m2;
• Subject experienced an event of acute kidney injury Common Terminology Criteria for Adverse Event (CTCAE) grade 2 or above;
• Subject experienced an event of stroke CTCAE grade 3 or above;
• Subject experienced an event of heart failure leading to in-patient hospitalization or prolongation of ongoing hospitalization.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Lucerastat; Dose will be based on subject's eGFR.	Drug: Lucerastat; Administered in hard gelatin capsules containing 250 mg of lucerastat.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Treatment-emergent adverse events (AEs)	From enrollment to Follow-up 1 (FU1) visit; duration: for up to 10 years including 1 month Follow-up

Other Outcome Measures

Outcome Measure	Time Frame
Subject estimated glomerular filtration rate (eGFR) slope	From baseline to Month 24, Month 48 and Month 72 (duration: up to 6 years)
Change in left ventricular mass index (LVMI)	From baseline to Month 24, Month 48 and Month 72 (duration: up to 6 years)
Change in plasma globotriaosylceramide (Gb3)	From baseline to Month 24, Month 48 and Month 72 (duration: up to 6 years)
Treatment-emergent serious adverse events (SAEs)	From enrollment to Follow-up 1 (FU1) visit; duration: for up to 10 years including 1 month Follow-up

Collaborators and Investigators

• Sponsor: Idorsia Pharmaceuticals Ltd.
• Investigators: Study Director: Clinical Trials, Idorsia Pharmaceuticals Ltd.

Publications and helpful links

General Publications

• Wanner C, Kimonis V, Politei J, Warnock DG, Uceyler N, Frey A, Cornelisse P, Hughes D. Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study. Mol Genet Metab Rep. 2022 Mar 26;31:100862. doi: 10.1016/j.ymgmr.2022.100862. eCollection 2022 Jun.

Study record dates

Study Major Dates

• Study Start (Actual): December 18, 2018
• Primary Completion (Estimated): August 1, 2029
• Study Completion (Estimated): November 1, 2029

Study Registration Dates

• First Submitted: November 6, 2018
• First Submitted That Met QC Criteria: November 7, 2018
• First Posted (Actual): November 9, 2018

Study Record Updates

• Last Update Posted (Estimated): October 21, 2025
• Last Update Submitted That Met QC Criteria: October 17, 2025
• Last Verified: June 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lipid Metabolism Disorders; Genetic Diseases, X-Linked; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Sphingolipidoses; Lipidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Fabry Disease; migalastat
• Other Study ID Numbers: ID-069A302; 2018-002210-12 (EudraCT Number); 2024-513884-20-00 (Ctis)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No