Left ventricular hypertrophy (LVH) — a condition when the walls of the heart’s left pumping chamber (left ventricle) become thickened — accompanied by damages to peripheral nerves and hearing impairments could be signs of late-onset Fabry disease, according to a case report. “This case serves as a potent reminder…

A new infusion protocol that gradually reduces the amount of time needed for the delivery of the Fabry disease therapy Fabrazyme (algasidase beta) is safe and well-tolerated, a study reports. The study, “Stepwise shortening of agalsidase beta infusion duration in Fabry disease: Clinical experience with infusion…

Long-term treatment with Fabrazyme (agalsidase beta), an enzyme replacement therapy for people with Fabry disease, slows the progression of kidney disease and significantly delays arriving at outcomes that include heart or kidney failure, results from clinical and real-world studies show. Findings from this work — a Phase 4 clinical trial…

More than half of male patients with classic Fabry disease develop neutralizing antibodies against enzyme replacement therapy (ERT), affecting its effectiveness, according to a study from Japan. This development appeared to be associated significantly with the presence of nonsense mutations in GLA — the mutated gene in Fabry disease…

The American Kidney Fund (AKF) has opened a Fabry disease education and awareness campaign that encourages people with chronic kidney disease (CKD) who don’t know the underlying cause of their disorder to get tested for Fabry. The effort is in partnership with Sanofi Genzyme, and expands on…

A case study of two cousins with Fabry disease who started producing high levels of neutralizing antibodies after enzyme replacement therapy (ERT) highlight the need for alternative therapies. The study, “Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres,” was…

If you have Fabry disease, you should consider joining the Fabry Registry. Among other benefits, the information you can provide may help scientists develop new treatments for the genetic disorder. About the Fabry Registry The Fabry Registry is the largest international patient registry database dedicated to Fabry…

As the number of Americans infected with COVID-19 surpasses one million, it’s no surprise that people with rare diseases — whose immune systems were generally compromised even before the outbreak — are particularly terrified of this pandemic. That fear is evident in an online survey conducted by the National…

As the number of Americans infected with COVID-19 surpasses one million, it’s no surprise that people with rare diseases — whose immune systems were generally compromised even before the outbreak — are particularly terrified of this pandemic. That fear is evident in an online survey conducted by the National…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…