Patricia Inácio, PhD, science writer —

A first patient has been treated with PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy for Fabry disease that is under review for approval, through an expanded access program (EAP) in the United States. “The initiation of treatment in the first patient enrolled in our EAP is an important milestone for the Fabry…

Pain, negative health perceptions, and certain coping styles for dealing with daily stressors are all linked to a greater incidence of depression among people with Fabry disease, according to a recent study. The study, “Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain,”…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy (ERT) for Fabry disease, is closer to accelerated approval after a successful pre-biologics license application (BLA) meeting with the U.S. Food and Drug Administration (FDA), according to a press release. PRX-102’s developers, Protalix BioTherapeutics and Chiesi Farmaceutici, met with…

A novel gene therapy developed by 4D Molecular Therapeutics can increase gene delivery to the heart without triggering an immune response, according to preclinical data. The gene therapy candidate is anticipated to enter human clinical trials in 2020. The findings were presented in a scientific poster, “A Novel…

A single injection with candidate gene therapy FLT190 showed positive results in a mouse model of Fabry disease by significantly increasing blood levels of GLA — the enzyme affected in this disease — and reducing Gb3 storage levels in the heart and kidney, the therapy’s developer, Freeline,…

Fabry disease shares some manifestations with rheumatic diseases, which has raised concerns of wrongful diagnosis and consequent delayed treatment. Still, patients with this rare genetic disease are unlikely to be systematically overlooked in clinical rheumatology practice, results of a genetic analysis of German patients with early undifferentiated arthritis shows. The…

The U.S. Food and Drug Administration (FDA) has approved Avrobio’s clinical program for AVR-RD-01 as a gene therapy candidate for the treatment of Fabry disease. Supported by the FDA’s decision, AvroBio will expand patient recruitment for its Phase 2 FAB-201 clinical trial (NCT03454893) to include patients across…

Protalix BioTherapeutics announced it has completed enrollment of its Phase 3 trial evaluating PRX-102 in Fabry disease patients previously treated with Shire’s Replagal (agalsidase alfa). The BRIDGE trial (NCT03018730) is an open-label switch-over study that will assess the safety and efficacy of PRX-102 in 22 patients with Fabry disease treated with Replagal for…

A case study detailing a younger man admitted to a hospital for a stroke — later attributed to Fabry disease — highlights the importance of family history in diagnosing diseases, especially rare diseases like Fabry, that have a wide range of clinical manifestations. The case report, “Fabry Disease Diagnosis…