AT1001-025
Research type
Research Study
Full title
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
IRAS ID
1011619
Contact name
Jasmine Rutecki
Contact email
Sponsor organisation
Amicus Therapeutics, Inc
Clinicaltrials.gov Identifier
Research summary
This trial will investigate the safety, pharmacokinetics (how a drug is absorbed, distributed and eliminated from the body) and effectiveness of the investigational drug, Migalastat to treat Fabry disease. Fabry disease is caused by an inherited mutation (a change in the genetic material (called DNA) that results in lower-than-normal levels of an enzyme called alpha-galactosidase A (or alpha-Gal A). This enzyme helps the body break down and get rid of certain types of fatty substances that are present in most cells of healthy humans. In Fabry disease, the low enzyme level causes a buildup of fatty substances in tissues such as the kidneys, heart, skin, and blood vessels. The increased level of these fatty substances, particularly one called GL-3, is believed to cause the symptoms and difficulties associated with Fabry disease.
The study will recruit 14 to 17 participants over 13 to 15 site worldwide.
This is an open label, non-comparative study and 2 distinct populations of participants with Fabry disease and renal impairment
-Cohort 1: Participants with severe renal impairment (SRI) not receiving any type of dialysis treatment
-Cohort 2: End-stage renal disease (ESRD) participants who are receiving hemodialysis (HD) treatment, either standard HD or hemodiafiltration (HDF), (herein referred to as subjects with ESRD).REC name
West of Scotland REC 1
REC reference
25/WS/0049
Date of REC Opinion
15 May 2025
REC opinion
Further Information Favourable Opinion