Migalastat is in clinical development for the treatment of Fabry disease for children aged 12 to 15 years old. Fabry disease is a rare genetic disorder caused by a defective gene (the GLA gene) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown (metabolism) of a lipid (fatty substance) in the body called globotriaosylceramide abbreviated GL-3. When the proper metabolism of this lipids does not occur, GL-3 accumulates and leads to cell damage. The cell damage causes a wide range of symptoms including potentially life-threatening consequences such as kidney failure, heart attacks and strokes often at a relatively early age.
Migalastat works by stabilizing the body’s own dysfunctional enzyme, so it can clear the accumulated disease substrate in patients who have amenable mutations. Migalastat is currently licenced for patients aged 16 or over with Fabry disease and an amenable mutation. If the license is extended, migalastat may offer an additional treatment option for paediatric subjects 12 to 15 years old with Fabry disease and an amenable mutation, who weight over 45Kgs.
Tralesinidase alfa is an investigational enzyme replacement therapy (ERT) designed to replace the faulty enzyme with a healthy one in patients with MPS IIIB. Tralesinidase alfa is delivered directly to the fluid surrounding the brain (cerebrospinal fluid). If licensed, tralesinidase alfa will offer new therapy option for patients with MPS IIIB who currently have no treatment options.