Spotlight shines on the ‘Heroes’ during Fabry Awareness Month

Fabry Awareness Month, which is marked every April to draw attention to Fabry disease, is shining a light on the “heroes” who are living with the disease and those who support them. The month’s activities seek to heighten awareness among the general public, as well as among researchers,…

Sharing my experiences with Fabry disease and spreading awareness of the condition are top priorities for me. Since Fabry disease was first described in 1898, researchers and advocates have worked to achieve a better understanding of the disease, improve how it’s managed, get new treatments approved, and…

Centogene has extended a collaboration deal with Takeda in which the two companies will continue to provide diagnostic services to patients with lysosomal storage disorders — which may help people with Fabry disease to get a correct diagnosis. The partnership was initially established to improve patient access…

Last in a series. Read part one and part two. In this three-part interview series, I am happy to share the candid, personal perspectives of my three children with Fabry disease. I’ve already spoken with Marisa, 13, and Michael, 21. This final installment offers a peek into…

Researchers in England are working toward identifying and addressing barriers to reaching a Fabry disease diagnosis among underrepresented communities, particularly within ethnic minority and low socioeconomic status groups. The project is spearheaded by Richard Steeds, MD, a professor at the University of Birmingham and consultant cardiologist at University Hospitals…

Measures of heart function improved one to two years after treatment with 4D-310, an investigational gene therapy for Fabry disease, according to new trial data from 4D Molecular Therapeutics (4DMT), the therapy’s developer. “We are pleased to see 4D-310 continue to consistently demonstrate clinical activity across multiple important…

A smartphone app, called Fabry App, for remotely assessing Fabry disease was found by patients to be helpful for tracking day-to-day fluctuations in symptoms, while their doctors found it easier to monitor them and identify needs for intervention, a small study conducted in the U.K. shows. “A well-designed app can…

The investigational therapy AL01211 safely lowered levels of globotriaosylceramide (Gb3) — the molecule that toxically accumulates in Fabry disease — among healthy adults taking part in a Phase 1 trial, according to published results. The oral treatment, being developed by AceLink Therapeutics, also is being tested in…

Second in a series. Read part one here. When our family was learning about our Fabry disease mutation, we heard about the inactivation of X chromosomes (where the mutation is found) and how Fabry disease thus presents differently in every female. That’s proven true in the…

A woman with Fabry disease was found to have two co-occurring disorders — a heart condition called dilated cardiomyopathy (DCM) and an autoimmune kidney disorder called immunoglobulin A nephropathy (IgAN) — a rare combination. “To the best of our knowledge, this is the first report on such a case,”…