News

Newborn screening with enzymatic testing can effectively detect Fabry disease in infants, a four-year study by the public health system in the U.S. state of Missouri suggests. The study, “Incidence of 4 Lysosomal Storage Disorders From 4 Years…

The investigative therapy pegunigalsidase alfa (PRX-102) effectively stabilized kidney function in Fabry disease patients more efficiently than Fabrazyme, according to Phase 3 clinical results. Fabrazyme (agalsidase beta), developed by Sanofi Genzyme, has been used as an enzyme replacement therapy (ERT) in Fabry disease to compensate for the lack…

Amicus Therapeutics announced the beginning of the availability of Galafold (migalastat) to treat Fabry disease in Japan, making this the first oral precision medicine available for patients with an amenable mutation in that country. Fabry disease is caused by mutations in the GLA gene, which lead to a defective…

Kidney injury associated with Fabry disease significantly varies among patients. Family members with unknown kidney disease should consider Fabry disease as a potential diagnosis, according to a case series report. The study, “Variable phenotypic presentations of renal involvement in Fabry disease: a case series,” was published in F1000 Research.

Early therapeutic intervention with enzyme replacement therapies (ERTs), along with a multidisciplinary follow-up, should be initiated at a young age in Fabry patients to promote the best outcomes and prevent disease progression in both adult and pediatric patients. These are the conclusions of the review, “Therapeutic goals…

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…

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…