News

Identifying small nerve fiber involvement early in Fabry disease (FD) could be critical to enabling timely diagnosis and treatment, according to a recent report. An array of clinical, sensory, and nerve function tests were used to identify signs of small nerve fiber neuropathy (SFN), or symptoms of nerve damage,…

In 2023, Fabry Disease News brought readers consistent coverage of the most recent developments in scientific research and clinical trials for Fabry disease. Here are the 10 most-read news stories of the year, along with a brief description of what made them relevant for our readers. No. 10…

A mutation in the GLA gene associated with Fabry disease was found by Italian researchers in a woman with end-stage kidney disease, according to a case report study. The 52-year-old woman was the sole family member with the disease-causing variant, meaning it was a de novo variant that wasn’t inherited…

Over the past two decades, kidney disease and urinary tract problems have become more common among people with Fabry disease, especially among female or Black patients. That’s according to the study, “Prevalence of Kidney and Urinary Tract Complications in Fabry Disease from 2000 to 2020: A…

Elfabrio (pegunigalsidase alfa) is as safe and effective as Fabrazyme (agalsidase beta) and can prevent kidney decline in adults with Fabry disease over two years, according to final data from the BALANCE Phase 3 clinical trial. Infusion-related side effects, in particular, occur significantly less often with Elfabrio than…

A man with Fabry disease experienced an easing of neuropathic pain, or nerve pain, with medical cannabis after failing to respond to standard therapies, a case study reports. “A clinical trial, including more patients, is needed to establish efficacy and safety of this analgesic approach in patients with FD…

The U.S. Food and Drug Administration (FDA) has cleared a Phase 1/2a trial to test uniQure‘s gene therapy candidate AMT-191 in a small group of people with Fabry disease. UniQure says it expects that enrollment in the U.S.-based trial — which will recruit six patients in all —…

The first Fabry disease patient has been dosed in a Phase 2 clinical trial that’s testing the experimental oral therapy AL01211. The Phase 2 study (NCT06114329) is expected to enroll 18 male patients with classic Fabry disease, ages 18 to 60, who have not received any prior…

Most children with Fabry disease, particularly those with the severe, classic form, have lower than normal skeletal muscle mass that affects the lower limbs more than the upper limbs, a study in China shows. Skeletal muscles are responsible for voluntary movements and play a vital role in everyday…

4D Molecular Therapeutics (4DMT) has reached an agreement with the U.S. Food and Drug Administration (FDA) to lift the hold on a U.S.-based clinical trial testing 4D-310, an investigational gene therapy for Fabry disease. The hold was based on safety data from the company’s INGLAXA Phase 1/2 trials.