Marisa Wexler, MS, senior science writer —

Activating a mitochondrial protein called TRAP1 can help to improve the functionality of lysosomes, the cellular structures that are defective in Fabry disease, a new study reports. The study, “Activation of mitochondrial TRAP1 stimulates mitochondria-lysosome crosstalk and correction of lysosomal dysfunction,” was published in iScience.

AL01211, a once-daily oral therapy being developed by AceLink Therapeutics for Fabry disease, has been granted an orphan drug designation by the U.S. Food and Drug Administration (FDA). The FDA gives this designation to investigational treatments with the potential to improve care for rare diseases that affect fewer than…

Doctors who treat Fabry disease tend to underappreciate the effect that symptoms like abnormal sweating and digestive complaints can have on a person’s quality of life, according to a new study conducted in Japan. The study also highlighted a disconnect in communication between doctors and patients when it comes…

Mendelics and Takeda are partnering for a new program that aims to use a genetic sequencing strategy to make diagnosis of Fabry disease easier and faster. Fabry disease is caused by mutations in the GLA gene located on the X chromosome. This gene provides instructions for making the alpha-galactosidase…

A tissue analysis technique called CARS microscopy could be useful for identifying heart involvement in Fabry disease, according to a new study. Fully known as Coherent anti-Stokes Raman microscopy, the technique “allows early, reliable and efficient detection of [Fabry]-triggered alterations in affected organs,” such as the heart, the researchers…

The case of a man with Fabry disease that co-occurred with a rare autoimmune kidney disorder was described in a recent report. While it’s possible that the rare combination was coincidental, researchers speculated that damage to the kidneys resulting from Fabry disease might have set the stage for the…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

Note: This story was updated Jan. 17, 2022, to note that Avrobio is deprioritizing its Fabry program.   Avrobio is stopping its gene therapy program for Fabry disease in favor of clinical programs for other disorders, including cystinosis and Gaucher disease type 1. According to a company …

A man living with Fabry disease for more than two decades was found to have a second co-occurring genetic condition called polycystic kidney disease, according to a recent report. “This case demonstrates the possibility of two [genetic kidney diseases] in the same individual and the risk of one diagnosis…

Protalix BioTherapeutics has requested a type A meeting with the U.S. Food and Drug Administration (FDA) to discuss a path forward for approval of PRX-102 (pegunigalsidase alfa), an investigational therapy for Fabry disease that was rejected by the regulatory agency earlier this year. The meeting is expected…