A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With Fabry Disease
Fabry disease is a rare genetic condition where the body cannot properly break down a fatty substance called Gb3. Over time, this fat collects in vital organs, especially the kidneys, and can cause long-term damage. This study is testing an investigational medicine called lucerastat in adult men aged 18 to 60 with Fabry disease who are not currently on treatment. It is an open-label trial, meaning everyone who takes part will receive lucerastat rather than a dummy drug (placebo). Participants will take lucerastat daily for 18 months and be monitored over 21 months in total. Doctors will check kidney health through regular clinic visits and two kidney biopsies—one at the start and one at the end. The goal is to see if lucerastat can clear the fatty buildup from kidney cells safely.
At a glance
What is this study about?
Fabry disease is an inherited condition caused by a faulty gene. Because of this gene change, the body lacks an important enzyme needed to clear out a fatty substance called Gb3. Without this enzyme, Gb3 gradually builds up inside cells throughout the body, particularly in the kidneys, heart, and nervous system. Over time, this buildup can lead to organ damage, pain, and reduced kidney function.
Current treatments for Fabry disease exist in the UK, such as enzyme replacement therapy given by regular drips. However, researchers are studying lucerastat to see if an oral medicine can work differently by reducing the amount of fat the body produces in the first place. This trial focuses on whether lucerastat can reduce the amount of Gb3 stored in the kidneys of men who have not had recent treatment.
Because this is a Phase 3 study, doctors are looking closely at both how well the medicine works and whether it causes any unwanted side effects. The results could help scientists understand if lucerastat is a safe and helpful future treatment option for people living with Fabry disease.
Key takeaways
- Tests an experimental daily tablet called lucerastat for adult men with Fabry disease.
- Open to men aged 18 to 60 who are not currently receiving Fabry treatments.
- Everyone on the trial receives the study drug (no dummy pills are used).
- Requires daily medication for 18 months, 10 clinic visits, and two kidney biopsies.
- Participation is voluntary, and existing approved NHS treatments are available.
Who may be eligible?
This trial is for men aged between 18 and 60 who have a confirmed diagnosis of Fabry disease. To be eligible, you must have symptoms related to the condition, such as burning nerve pain, specific patterns on the surface of the eye, or small dark red spots on your skin. You must also be untreated, meaning you have not had an approved or trial treatment for Fabry disease in the past six months.
You will not be able to join if you have severe kidney problems, bleeding disorders, or other medical issues that make having a kidney biopsy unsafe. You must also have adequate blood counts and be able to safely pause any blood-thinning medicines if needed for the biopsy.
In the UK, approved treatments for Fabry disease are already available on the NHS. Before joining, doctors will discuss these existing options with you so you understand that lucerastat is still an experimental medicine undergoing testing.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- I am a man aged between 18 and 60.
- I have a confirmed diagnosis of Fabry disease.
- I have not received any treatment for Fabry disease in the last 6 months.
- I have symptoms such as nerve pain, dark skin spots, or eye changes linked to Fabry disease.
- I am willing and medically able to undergo two kidney biopsies.
What does participation involve?
Taking part in this study lasts for up to 21 months. You will take lucerastat tablets every day for 18 months. During the trial, you will visit the hospital clinic about 10 times for health checks, blood tests, and urine tests to monitor your kidneys and general wellbeing.
You will also have two kidney biopsies—one near the beginning of the study and one at the end. A biopsy is a minor procedure where doctors take a tiny sample of kidney tissue using a needle, allowing them to measure the exact amount of fat inside your kidney cells. The study team will support you throughout and monitor you closely for any side effects.
Potential risks and benefits
Locations (16)
- University of Alabama of BirminghamVerified postcodeBirmingham, United States· Not yet recruiting
- UCSF Benioff Childens HospitalVerified postcodeOakland, United States· Not yet recruiting
- UF Health Center for Pediatric Neuromuscular and Rare DiseasesVerified postcodeGainesville, United States· Not yet recruiting
- Emory University School of MedicineVerified postcodeAtlanta, United States· Not yet recruiting
- Ann & Robert H. Lurie Childrens Hospital of ChicagoVerified postcodeChicago, United States· Not yet recruiting
- The University of Minnesota, Fairview HealthVerified postcodeMinneapolis, United States· Not yet recruiting
- Hospital of University Pennsylvania, Translational Medicine and Human GeneticsVerified postcodePhiladelphia, United States· Not yet recruiting
- Dallas Nephrology Associates (DNA) - Dallas Landry Office PracticeVerified postcodeDallas, United States· Recruiting
- VG Site pharmacy Dept 6 N-279Verified postcodeHalifax, Canada· Not yet recruiting
- CIUSSS-NIM/Hopital du sacre-Coeur de MontrealUnite de Recherche, Local C2030Verified postcodeMontreal, Canada· Not yet recruiting
- Centre Hospitalier Universitaire de Toulouse -Hôpital PurpanVerified postcodeToulouse, France· Not yet recruiting
- Hôpital Raymond-PoincaréVerified postcodeGarches, France· Not yet recruiting
Common questions
Will I receive a placebo (dummy pill)?
No. This is an open-label study, which means every participant receives the active trial medicine, lucerastat.
What is a kidney biopsy?
A kidney biopsy is a common medical test where a doctor numbs the skin and uses a thin needle to remove a tiny piece of kidney tissue for examination under a microscope.
Why is this trial only open to men?
Fabry disease is linked to the X chromosome, meaning men generally have more severe enzyme deficiencies and clearer kidney fat buildup, making it easier for scientists to measure if the medicine works.
Can I leave the trial if I change my mind?
Yes. You are free to stop taking part at any point. Your normal healthcare and relationship with your doctors will continue as normal.
Does taking part cost anything?
No, the trial medicine and all tests are provided free of charge, and travel expenses to clinic visits are usually reimbursed.
How to find out more
Clinical Trial Information USA
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
Discussion
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