Fabry Disease News

August 4, 2020August 4, 2020

New Mutation That Causes Fabry Found in GLA Gene

Fabry Disease News

Investigators have identified a new mutation in the GLA gene that caused Fabry disease in a 25-year-old man with end-stage kidney failure. His case was described in the study “Rare ... Read more

July 21, 2020July 21, 2020

Certain Fabry Patients May Switch from ERT to Galafold, Real-life Study Suggests

Fabry Disease News

Switching from enzyme replacement therapy (ERT) to Galafold (migalastat) is a valid and safe therapeutic option for Fabry disease patients with Galafold-amenable mutations, according to a real-life study from Italy. Notably, the ... Read more

July 14, 2020July 14, 2020

Alternative Therapies Needed for Patients Who Respond Poorly to ERT

Fabry Disease News

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, ... Read more

July 7, 2020July 8, 2020

Comprehensive New Urine Test May Help Doctors Monitor Fabry Disease Progression

Fabry Disease News

A newly developed urine test that measures the levels of different proteins may help doctors to more quickly and accurately monitor the progression of Fabry disease, a study finds. The ... Read more

June 30, 2020July 1, 2020

Single Dose of AMT-190 Effective in Mice and Primate Studies of Fabry

Fabry Disease News

A single administration of AMT-190, uniQure’s investigational gene therapy for Fabry disease, significantly increases the activity of  alpha-galactosidase A — the faulty enzyme in Fabry patients — in mice and ... Read more

June 23, 2020July 24, 2020

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

COVID-19 News, Fabry Disease News

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support ... Read more

June 16, 2020June 16, 2020

Clinical Trial Data Support AVR-RD-01 Gene Therapy for Fabry Disease

COVID-19 News, Fabry Disease News

New clinical trial data support the effectiveness of AVR-RD-01, Avrobio‘s investigational gene therapy for Fabry disease. The data also indicate that Avrobio’s proprietary gene therapy platform plato might be more ... Read more

June 10, 2020July 11, 2020

Coalition Will Address Racial Disparities in Rare Disease Communities

COVID-19 News, Fabry Disease News

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for ... Read more

June 9, 2020June 10, 2020

PRX-102 ERT Improves Kidney Function in Patients Treated With Replagal

COVID-19 News, Fabry Disease News

Treatment with PRX-102 (pegunigalsidase alfa), Protalix BioTherapeutics’ investigational enzyme replacement therapy (ERT) for Fabry disease, led to significant improvements in kidney function in patients who had been previously treated with ... Read more

June 2, 2020June 2, 2020

Protalix, Chiesi Request U.S. Approval of PRX-102 to Treat Fabry in Adults

Fabry Disease News

Protalix BioTherapeutics and its partner Chiesi Global Rare Diseases, have submitted an application to the U.S. Food and Drug Administration (FDA) requesting the approval of PRX-102 (pegunigalsidase alfa), an investigational ... Read more

May 28, 2020June 29, 2020

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

COVID-19 News, Fabry Disease News

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies ... Read more

May 26, 2020May 26, 2020

Fewer Antibodies Against PRX-102 Than Fabrazyme Likely, Trial Data Suggest

Fabry Disease News

Fabry disease patients may naturally have higher levels of neutralizing antibodies against Fabrazyme (agalsidase beta) than against Protalix BioTherapeutics‘ investigational PRX-102 (pegunigalsidase alfa), BALANCE Phase 3 trial data suggest. As antibodies ... Read more

May 25, 2020June 25, 2020

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Fabry Disease News

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was ... Read more

May 21, 2020June 21, 2020

Video Games Connect Chronically Ill Children Isolated at Home, Hospital

COVID-19 News, Fabry Disease News

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, ... Read more

May 20, 2020June 19, 2020

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

COVID-19 News, Fabry Disease News

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The ... Read more