News

Enrollment has been completed for a Phase 3 clinical trial comparing PRX-102 (pegunigalsidase alfa) with Fabrazyme (agalsidase beta) for the treatment of Fabry disease. The BALANCE trial (NCT02795676) estimated enrolling 78 Fabry disease patients with impaired renal function who had been previously treated with Sanofi Genzyme’s…

Nearly half of Fabry patients have amenable or responsive mutations to Galafold (migalastat) but show different responses to the therapy, according to a Swiss population study. The study found that patients with higher residual activity of the alpha-galactosidase A (GLA) enzyme — which is deficient in Fabry patients —…

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…

Heart cells derived from patients’ stem cells and grown in a lab dish can reveal important clues about the development of heart ailments associated with Fabry disease. The study, “A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology,” was published in…

The first patient in a Phase 1/2 clinical trial of Fabry disease gene therapy candidate FLT190 has been dosed. Enrollment is ongoing at the Royal Free Hospital, in London, U.K. More information and contacts are available here. Fabry disease is caused by a faulty GLA gene, which provides…

A new mutation in the GLA gene was found in a Chinese patient with Fabry disease that leads to low alpha-galactosidase A (alpha-GAL A) activity and correlates with kidney symptoms linked to the disorder. The case report, “Functional evaluation of a novel GLA causative mutation…

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

Testing alpha-galactosidase A enzyme activity may be a more cost-effective screening method for diagnosing Fabry disease than genetic tests, a study suggests. Titled “Cost Efficacy of α-Galactosidase A Enzyme Screening for Fabry Disease,” the study was published in the journal Mayo Clinic Proceedings. Fabry…

Pharmaceutical executives rarely make for a sympathetic Hollywood medical drama. But John Crowley did, and in the nearly 10 years since the release of “Extraordinary Measures” — a tearjerker starring Brendan Fraser as Crowley and Harrison Ford as short-tempered scientist Robert Stonehill — biotech has seen a huge transformation, both…