AN OPEN-LABEL STUDY TO EVALUATE THE SAFETY AND PHARMACOKINETICS OF MIGALASTAT HCL IN SUBJECTS WITH FABRY DISEASE AND AMENABLE GLA VARIANTS AND SEVERE RENAL IMPAIRMENT OR END-STAGE RENAL DISEASE TREATED WITH HEMODIALYSIS
Fabry disease is a rare inherited condition where fatty substances build up in the body, which can cause serious damage to organs like the kidneys. Galafold (migalastat) is an approved capsule treatment, but doctors need more information about how it works in people whose kidneys are severely damaged or who need regular haemodialysis. In this clinical trial, adults with Fabry disease and severe kidney problems will take Galafold capsules. The research team will track how the body breaks down and removes the drug by testing levels in the blood and urine. They will also keep a close watch on overall health through regular check-ups, heart scans, and blood tests. The aim is to find out if the medicine is safe, well-tolerated, and dosed correctly for people living with severe kidney disease.
At a glance
What is this study about?
Fabry disease is a rare genetic condition caused by a missing or faulty enzyme in the body. Without enough of this enzyme, fatty substances slowly build up inside cells, leading to pain and potential damage to vital organs such as the heart and kidneys over time. Many people with Fabry disease eventually develop severe kidney problems and may require kidney dialysis to clean their blood.
Galafold (migalastat) is a treatment taken as a capsule by mouth. It works like a helper or 'chaperone', helping the body's own enzyme work more effectively. However, Galafold only works for people who have specific genetic changes (known as amenable variants). Because kidneys normally help filter medicines out of the body, having severe kidney disease can change how a drug builds up or clears away.
This study is important because it focuses specifically on people with Fabry disease who also have severe kidney impairment or end-stage kidney failure treated with haemodialysis. Researchers want to understand the best and safest dose for this group, ensuring that patients with advanced kidney disease are not left without treatment options.
Key takeaways
- Testing Galafold (migalastat) capsules in adults with Fabry disease and severe kidney disease or dialysis.
- Aims to find out how the medicine is cleared by the body and check its safety.
- Open to men and women aged 18 and older with a confirmed responsive (amenable) gene variant.
- Everyone in the study receives the active medicine; there is no dummy pill.
- Participation includes close health monitoring, blood and urine tests, and heart checks.
Who may be eligible?
This study is open to adults aged 18 and older who have been diagnosed with Fabry disease. Because Galafold only works on certain types of the condition, participants must have a genetic test showing they have an 'amenable' gene variant that responds to the medicine.
Participants must also have severe kidney problems or end-stage kidney disease that requires regular haemodialysis. Both men and women can take part.
The study team will review your full medical history, current treatments, and test results to decide if joining the study is safe and right for you.
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 aged 18 or older.
- I have a confirmed diagnosis of Fabry disease.
- My genetic test shows an 'amenable' gene variant that can respond to Galafold.
- I have severe kidney disease or I receive regular haemodialysis for kidney failure.
- I am willing to attend regular hospital appointments for check-ups and blood tests.
What does participation involve?
If you take part, you will receive Galafold (123 mg) capsules to take as instructed by the study doctor. Because this is an 'open-label' study, you and your doctors will know that you are receiving the real medicine rather than a dummy pill (placebo).
You will need to attend regular clinic visits. During these visits, the medical team will take blood and urine samples to measure the amount of medicine in your body and check levels of a fatty marker linked to Fabry disease. If you are on haemodialysis, some tests will be timed around your dialysis sessions. The team will also monitor your overall health with physical examinations, blood pressure and pulse checks, and heart traces (ECGs). The study team will explain the exact schedule and total length of the trial before you decide to join.
Potential risks and benefits
Locations (3)
- —UnverifiedSpain
- —UnverifiedFrance
- —UnverifiedPortugal
Common questions
What does an 'amenable' gene variant mean?
It means your specific genetic type of Fabry disease produces an enzyme that can respond to and be helped by Galafold. A genetic test can confirm this.
Will I receive a dummy pill (placebo)?
No. This is an open-label trial, which means all participants receive the active Galafold capsules.
Can I take part if I am already on dialysis?
Yes. The trial is specifically designed for people with severe kidney problems, including those receiving regular haemodialysis.
Will I have to pay to take part in this study?
No. The study medicine and all trial-related tests are provided free of charge, and travel expenses are often reimbursed.
What happens if I decide I want to stop?
You are free to leave the trial at any time. Your normal medical care and relationship with your doctors will not be affected in any way.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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