A U.S.-based Phase 1/2a clinical trial testing AMT-191, uniQure’s gene therapy treatment for Fabry disease, has completed enrollment of the first patient group, and the company plans to start recruiting for the second group by the end of March. Dosing in the trial began in August 2024.
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 woman in her 20s with Fabry disease was safely treated with agalsidase alfa — a commonly used enzyme replacement therapy (ERT) — during her two pregnancies with no resulting complications, a case study reported. During the first pregnancy, “we did not observe any adverse event on…
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…
Incorporating a three-tiered approach to newborn screening (NBS) makes it highly feasible for large-scale programs, according to a recent study conducted in Brazil. This comprehensive method — involving enzyme analysis, biomarker examination, and genetic testing — can ensure timely intervention and optimal care for newborns. Using this approach, researchers in…
A 55-year-old man with a Fabry disease-related tumor in the large intestine was treated successfully with a nonsurgical procedure called endoscopic rubber band ligation therapy, a case study reported. “[C]olonoscopy surveillance may benefit Fabry’s disease patients with gastrointestinal [obstructions],” researchers wrote, adding that rubber band ligation therapy is a…
Fabry disease remains widely underdiagnosed, especially among women, according to a new population-based study that identified one undiagnosed case per every 3,225 people. The study found that the genetic mutations that cause Fabry, a rare disorder primarily affecting the heart, nervous system, and kidneys, are more common than…
Patients prefer receiving enzyme replacement therapy (ERT) at home, citing savings in travel time and cost, over clinical visits, according to a survey of people with Fabry disease and other lysosomal storage disorders in Germany. “All patients would recommend home-based ERT to other patients” during the two-year follow-up…
Centogene has extended its partnership with Takeda to keep providing genetic testing services for the diagnosis of lysosomal storage disorders, including Fabry disease. Under the new deal, Takeda will continue to access the diagnostics service for another year. Lysosomal storage diseases, which are characterized by an abnormal…
In previously untreated Fabry disease patients with heart involvement, 18 months of treatment with Galafold (migalastat) stabilized measures of heart disease and was linked to a trend toward improvement in exercise tolerance, an observational study reported These findings provide “new detailed evidence on the effect of migalastat on…
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