Top 10 Fabry disease news stories of 2024
Updates on improving diagnosis, developing treatments were of most interest
Throughout 2024, the team at Fabry Disease News brought our readers all the latest updates on research related to Fabry disease and advances in diagnosis and treatment.
Here is a list of the 10 most-read articles of last year. We look forward to continuing to be a resource to the Fabry community, and sharing informative stories with you, in 2025.
10. Trial of Fabry gene therapy starts dosing patients
A U.S. clinical trial designed to test a gene therapy for Fabry disease dosed its first participant in August. Fabry is caused by mutations in the GLA gene, and this therapy, called AMT-191, aims to deliver a healthy copy of the GLA gene to cells in the liver. The clinical trial, sponsored by AMT-191’s developer uniQure, is expected to test two doses of the gene therapy in a dozen patients, with a main goal of assessing the treatment’s safety. The trial is still recruiting adults with Fabry disease, ages 18 to 50, at sites in New York and Virginia. Eligible patients will have had a suboptimal response after at least one year of enzyme replacement therapy.
9. Heart-targeting gene therapy shows promise in trials
Data from two clinical trials testing a gene therapy for Fabry disease suggested that the experimental treatment may improve heart function. The trials are testing 4D-310, a gene therapy developed by 4D Molecular Therapeutics, that aims to deliver a healthy copy of the defective GLA gene specifically to cells in the heart — an organ that’s often hit hard by Fabry disease and that typically does not show much benefit with the use of currently available treatments. In addition to showing promising effects on heart function after one to two years, available data suggested that this gene therapy may help improve patients’ quality of life.
8. Identifying small nerve fiber damage may help detect Fabry
Looking for damage to small nerve fibers may help doctors identify Fabry disease, according to a retrospective study of more than two dozen patients. Clinical outcomes in Fabry patients are generally best when treatment is started as early as possible, so diagnosing the disease quickly is crucial to get the best outcomes for patients, the researchers noted. Nonetheless, people with Fabry often face long delays in getting a correct diagnosis. This study found that many people with Fabry show evidence of damage to small nerve fibers, implying that looking for this type of damage could help aid in the diagnostic process.
7. Elfabrio helps maintain kidney health in Fabry disease
Treatment with Elfabrio (pegunigalsidase alfa) slowed the progression of kidney disease in adults with Fabry disease, data from a clinical trial showed. Elfabrio is an enzyme replacement therapy for Fabry that was developed by Protalix Biotherapeutics and Chiesi Global Rare Diseases. The treatment was approved in the U.S. last year based in part on data from a Phase 3 clinical trial. Final published data from the trial showed that treatment with Elfabrio slowed decline in kidney function, a common complication of Fabry disease.
6. Inflammatory markers found elevated in Fabry patients’ blood
People with Fabry disease have higher than normal levels of certain inflammatory proteins in their blood, a study found. Inflammation has long been thought to play a role in Fabry, but the link between inflammation and disease progression is not fully understood. This study found that Fabry patients with higher levels of inflammatory markers tend to have more severe disease. Data also suggested that approved Fabry treatments may help lower inflammatory markers.
5. Gene therapy shows good safety in clinical trial
Interim data from the Phase 1/2 STAAR clinical trial that’s testing the safety of ST-920 (isaralgagene civaparvovec) — an experimental gene therapy for Fabry being developed by Sangamo Therapeutics — suggest that the treatment is well tolerated. Two serious safety issues, specifically one instance of fever and one of muscle pain, were reported among the trial’s more than 30 participants. Available data also hint that this gene therapy seems to be working as intended, with patients experiencing stabilized kidney function, lessened disease severity, and better life quality. The trial is expected to conclude later this year.
4. Algorithm aims to detect Fabry disease using insurance data
An international team of scientists created a mathematical model to help identify Fabry disease using data routinely collected by insurance providers. The new algorithm essentially works by looking for patterns of insurance claims that are more frequently seen in people with Fabry, with the model showing promise particularly for young and/or female potential patients. The researchers hope that this tool could ultimately help Fabry patients get diagnosed faster and more efficiently.
3. FDA says 1 more study needed for gene therapy approval
Early last year, the U.S. Food and Drug Administration signaled that data from one well-designed clinical trial could be enough to support approval of ST-920, Sangamo’s gene therapy for Fabry disease. The agency said that approval could potentially be considered based on data from one further trial, added to available evidence including data from the ongoing Phase 1/2 STAAR clinical study. ST-920 has been awarded orphan drug status in both the U.S. and the European Union — a designation aimed at speeding the development of treatments for rare diseases with various incentives.
2. Cough is only symptom for man with Fabry disease
The case of a 46-year-old man in Europe who was diagnosed with Fabry after complaining of an unexplained, chronic cough highlighted the symptom as a possible sign of the disease, according to a report by clinicians in Poland. Lung problems like chronic cough can be a symptom of Fabry, but they are often overlooked by clinicians, the researchers noted. As such, these scientists emphasized that doctors should consider the possibility of Fabry in people with unexplained lung symptoms, especially if other potential signs of the disease are present.
1. Doctors caring for chronic pain patients should look for Fabry disease
Clinicians caring for people with unexplained chronic pain should be on the lookout for Fabry disease, scientists argued in a study from France. Their report described outcomes from a program in which nearly 1,000 people with chronic pain were systematically evaluated for Fabry, leading to a diagnosis of the disorder in one individual. That result shows that, while Fabry is rare among people with chronic pain, it may be the cause of symptoms for some people.
We at Fabry Disease News hope these stories and all our reporting made us a helpful source of information throughout 2024, and we wish all our readers a bright new year!
About the Author
