Idorsia has enrolled the first patient in its MODIFY clinical trial, which will evaluate the potential of investigative oral monotherapy lucerastat as a treatment for adult patients with genetically confirmed Fabry disease. The Phase 3 trial (NCT03425539) will assess the safety and effectiveness of lucerastat in Fabry…
News
Early treatment with enzyme replacement therapies targeting the underlying cause of Fabry disease may help delay cardiac manifestations and heart disease progression in Fabry patients, according to Japanese researchers. Their study, “The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients,”…
Increased levels of fat molecules characteristic of Fabry disease are linked to lung function decline over time. Progressive airflow limitation in Fabry patients can be prevented by starting treatment early with replacement enzymes, according to a recent report. The study, “Pulmonary involvement in Fabry disease: effect…
Approximately one-third of Fabry disease patients have cognitive impairments, a feature more common in those who have a deficient blood supply to the brain (called cerebrovascular disease), according to researchers in Denmark. Their study, “Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study…
Transplanting the liver may not be an effective strategy to restore α-galactosidase A (GLA) levels — the deficient enzyme in Fabry disease patients — according to a case report. The report, “Persistent Alpha-galactosidase A Deficiency following Simultaneous Liver-Kidney Transplantation in a Patient with Fabry Disease,” was published…
Galafold (migalastat) significantly reduces diarrhea in patients with Fabry disease and “amenable” mutations — that can respond to Galafold treatment — according to a recent analysis of the FACETS study’s results. This result supports previous evidence from the same trial showing that Galafold improves gastrointestinal symptoms, including diarrhea,…
An enzyme structurally similar to alpha-galactosidase A (GLA), present in a close relative of the tobacco plant, was able to rescue Fabry disease patients’ cells. These findings suggest that plant alpha-galactosidases can be a potential new source for enzyme replacement therapy in Fabry disease. The study “Nicotiana benthamiana α-galactosidase A1.1 can…
Genetic and enzymatic screening of people in Spain revealed that the real prevalence of Fabry disease is likely underestimated, and that late diagnosis is detrimental to patients because of delayed treatment. The study, “Fabry disease in the Spanish population: observational study with detection…
A specific mutation in the GLA gene is associated with late-onset Fabry disease, and primarily affects the heart with more severe symptoms in males, according to researchers who received information from an international Fabry disease registry. Cardiac problems in people carrying this mutation may become…
April is Fabry Disease Awareness Month, and Amicus Therapeutics helped to raise awareness about the disease, as well as Pompe disease, by participating in a series of activities throughout the month. Fabry disease is an inherited lysosomal storage disorder caused by deficiency of an enzyme called alpha-galactosidase A (alpha…
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