Idorsia has enrolled the first patient in a Phase 3 registration study to investigate the effect of lucerastat, as an oral monotherapy, for the treatment of adult patients with genetically confirmed Fabry disease, irrespective of their genetic mutation type, the company said Wednesday.
The study will recruit over 100 patients from 29 trial sites across 9 countries, with primary endpoint to reduce neuropathic pain, described as feeling like burning, shocks or shooting, stabbing, tingling, and/or pins and needles primarily in the hands and feet, Idorsia said in its press release.
Dr. Derralynn Hughes, DPhil, FRCP, FRCPath and EU Coordinating Investigator, said: “Today’s news is an important milestone for the Fabry research and patient communities that have contributed to the development of this study. Pain is a genuine and pressing unmet need of the Fabry patient population. Pain remains a significant burden for many patients, even for some of those who are already being treated with enzyme replacement therapy. Lucerastat represents an exciting potential new oral treatment option to address this.”
Fabry disease is a rare, life threatening, inherited lysosomal storage disorder in which a particular lipid, called globotriaosylceramide (Gb3), accumulates in cells of many organs of the body. This build-up results in cellular dysfunction leading to a range of signs and symptoms from neuropathic pain (pain primarily in the hands and feet), stomach, skin and eye problems, to hypertension, progressive kidney damage, cardiomyopathy, and stroke. New treatment options are needed to treat the underlying mechanism of the disease and provide symptomatic relief.
Martine Clozel, Chief Scientific Officer, said that Idorsia’s preclinical data indicate that lucerastat has the potential to treat patients with Fabry disease, regardless of their specific gene mutation type. Clozel said that the study will include patients who were never treated with enzyme or patients who stopped enzyme replacement therapy. “In parallel to the study, we will also run a pediatric study to assess lucerastat in children aged from 2 to 18 years. Lucerastat is therefore a potential new oral treatment option for a very broad spectrum of patients living with Fabry disease,” Clozel said.
Guy Braunstein, MD and Head of Global Clinical Development, said that an international patient survey was conducted to better understand the symptoms of patients with Fabry disease, and validated a patient reported outcome instrument to specifically assess Fabry neuropathic pain, in accordance with health authority guidance.