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Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Kidney biopsies can be instrumental in diagnosing Fabry disease, particularly in females for whom symptoms can vary widely, a new case report contends. The report, “A case of female Fabry disease revealed by renal biopsy,” was published in CEN Case Reports. Fabry disease is caused by mutations in…

Certain cells in patients with Fabry disease seem to age more rapidly than in healthy people, which may explain why patients have a shorter lifespan compared to the general population, a study has found. By measuring “molecular clocks” linked to aging, called telomeres, researchers saw that cells from…

Treatment with PRX-102 (pegunigalsidase alfa) can safely and effectively improve kidney function in Fabry disease patients, according to preliminary data from a Phase 3 clinical trial. One year of treatment with PRX-102 significantly improved the clinical status of all patients with progressing disease and 66.7% of those with…

Even with treatment, people with Fabry disease often experience pain to an extent that it affects their quality of life, a study based on a survey of more than 350 patients reports. Diarrhea was also a commonly reported problem, but more often in male respondents than female. “…

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…