The U.S. Food and Drug Administration (FDA) has granted orphan drug status to AMT-191, an investigational one-time gene therapy being developed by uniQure to treat Fabry disease, the company announced. This status is granted to treatments developed for rare diseases affecting fewer than 200,000 people in the U.S. It…
People with Fabry disease have higher levels of certain inflammatory cytokines — small proteins that act as chemical messengers of the immune system — in their blood than do healthy individuals, according to a study by researchers in China. Higher blood levels of some of these inflammatory proteins were…
Chiesi Global Rare Diseases is launching a research grant initiative to support innovative studies into Fabry disease, alpha-mannosidosis, and cystinosis — all three of which are lysosomal storage disorders (LSDs). “Whilst the disorders can be rare individually, their prevalence is significant at a global level with an estimated…
Almost 1% of adults in China with an unexplained thickened wall of the heart’s main pumping chamber, called left ventricular hypertrophy (LVH), were diagnosed with Fabry disease, a study involving nearly 1,000 patients shows. “Our data advocate for routine screening for [Fabry] in all adult LVH patients,” the researchers wrote.
Programs that systematically tested for Fabry disease in nearly 1,000 people with chronic pain at centers in France led to a diagnosis in one individual, a new study reports. The low prevalence suggests systematic testing for Fabry in chronic pain patients “does not seem relevant,” researchers wrote. Nonetheless,…
The first patient has been dosed in uniQure’s U.S. Phase 1/2a clinical trial of AMT-191, its gene therapy candidate for Fabry disease. The clinical trial, an open-label study (NCT06270316) focused on safety and early efficacy, is still recruiting about 12 adult male patients at a…
A chronic cough was the only initial symptom in a 46-year-old man who was eventually diagnosed with Fabry disease, a case study indicates. “This case highlights that chronic cough may be an important clue for pulmonary involvement in [Fabry disease] and should prompt further evaluation in patients with other…
Long-term use of Galafold (migalastat) preserved kidney function and prevented serious organ complications in Fabry disease patients over more than three years of treatment, according to new analyses of data from a real-world patient registry. These patients were on average older and had a relatively severe disease burden,…
Modifying a potential gene therapy with a specific antibody increased its efficacy in cells that line blood vessels — cells whose dysfunction underlies cardiovascular problems in Fabry disease — a new study from researchers in Spain and the Netherlands showed. This strategy, tested here in a cellular model of…
An international team of scientists has developed a novel algorithm that may help identify people with Fabry disease based on insurance claims data. The model showed particular promise for detecting potential Fabry patients who are young and/or female, according to the study “Unveiling the untreated: development…
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