Patricia Inácio, PhD, science writer —

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…

A long clinical history of cardiac alterations, including heart valve impairments, without an apparent cause and accompanied by kidney dysfunction may be a sign of undiagnosed Fabry disease, a case report suggests. The report, “Transcatheter Tricuspid Valve Replacement for Anderson Fabry Disease With Severe Tricuspid Regurgitation,” was published…

Note: This story was updated Dec. 12, 2022, to correct the date by which the FDA must announce its decision about whether to approve PRX-102 is May 9, 2023. The U.S. Food and Drug Administration (FDA) has accepted for review a second biologics license application (BLA)…

Left ventricular hypertrophy (LVH) — a condition when the walls of the heart’s left pumping chamber (left ventricle) become thickened — accompanied by damages to peripheral nerves and hearing impairments could be signs of late-onset Fabry disease, according to a case report. “This case serves as a potent reminder…

Protalix BioTherapeutics and its partner Chiesi Global Rare Diseases have applied to the European Medicines Agency (EMA) for the approval of PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy, to treat adults with Fabry disease. This approval request, in the form of a marketing authorization application, has been validated by the EMA and now…