Migalastat for Fabry Disease

This trial tests a treatment called migalastat to determine its safety and effectiveness for people with Fabry disease who have severe kidney problems. Fabry disease is a genetic disorder that can cause serious issues, including kidney damage. Participants will be divided into two groups: one with severe kidney impairment and another with end-stage kidney disease, where kidneys have almost stopped working. Suitable candidates include those with Fabry disease and significant kidney issues, such as individuals on regular dialysis. As a Phase 3 trial, this study represents the final step before FDA approval, offering participants a chance to contribute to a potentially groundbreaking treatment.

The trial requires that you do not take certain medications like Glyset, Replagal, Fabrazyme, or Zavesca while participating. If you are on these, you would need to stop them to join the trial.

Research has shown that migalastat is generally well tolerated by people with Fabry disease. In studies, most patients took the medication without major problems. One study found it was safe for use over a year in 50 patients.

However, migalastat might not suit individuals with very low kidney function. For those with an estimated glomerular filtration rate (a measure of kidney health) below 30, it may not be the best choice.

Researchers are excited about migalastat for Fabry disease because it works differently from the current standard treatments, which are mainly enzyme replacement therapies like agalsidase beta and agalsidase alfa. Unlike these treatments, migalastat is a pharmacological chaperone that targets the underlying genetic mutation in Fabry disease, helping to stabilize the body's own dysfunctional enzyme. This oral treatment offers a more convenient administration method compared to the regular intravenous infusions required by enzyme replacement therapies. Additionally, migalastat is tailored to treat patients with amenable mutations, potentially offering a more personalized approach to managing Fabry disease.

Previous studies have shown that migalastat is significantly effective in treating Fabry disease, a genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A. Research indicates that migalastat improves heart health by enhancing heart structure in patients. It has also proven more effective than a placebo in addressing key symptoms of Fabry disease. This treatment is particularly beneficial for patients with specific genetic types of the disease, known as amenable GLA variants. In this trial, participants with severe renal impairment or end-stage renal disease will receive migalastat, highlighting its potential effectiveness for those with severe kidney problems.⁴⁶⁷⁸⁹