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1 month ago | 
fabrydiseasenews.com | Marisa Wexler |Susanna VanVickle |Mary Chapman |Jerry Walter
For Fabry Awareness Month this April, the Fabry International Network, or FIN — an alliance of 61 patient organizations in 57 countries — is shining a spotlight on doctors who have focused on caring for people with the rare inherited disease, helping patients better understand the disorder, get accurate diagnoses, and access treatments. FIN has created a webpage highlighting the work of more than a dozen doctors worldwide who care for people with Fabry disease.
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Feb 6, 2025 | 
fabrydiseasenews.com | Patricia Inacio |Jerry Walter |Steve Bryson |Margarida Maia
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.
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Jan 9, 2025 | 
fabrydiseasenews.com | Marisa Wexler |Steve Bryson |Jerry Walter |Margarida Maia
A Fabry disease diagnosis for a woman in Portugal came only after she had a stroke in her early 40s, according to a new report in which the scientists highlighted “the importance of early diagnosis,” especially in nontypical cases.
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Sep 18, 2024 | 
fabrydiseasenews.com | Jerry Walter |Steve Bryson |Katherine Poinsatte |Andrea Lobo
Fabry disease can be an indirect cause of cancer after a transplant. I’m an example of that possibility. After my 2020 heart transplant at Duke University Medical Center, I was told that my risk of developing cancer was higher. The organ transplant antirejection medications I must take for the rest of my life weaken my immune system and increase my risk. I wasn’t sure what to think of this information until this year, when on May 15 I was diagnosed with basal cell carcinoma on my face.
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Jul 26, 2024 | 
fabrydiseasenews.com | Marisa Wexler |Steve Bryson |Jerry Walter |Lindsey Shapiro
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 of a database algorithm to identify potential Fabry disease patients in Germany,” which was published in the Orphanet Journal of Rare Diseases.
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Jun 14, 2024 | 
fabrydiseasenews.com | Andrea Lobo |Jerry Walter |Margarida Maia |Patricia Inacio
Relay Therapeutics said it expects to start clinical development of its treatment candidate for Fabry disease in the second half of 2025. The program in Fabry disease, together with other programs under development for another genetic disease and solid tumors, were disclosed in a June 6 event, “New Program & Platform.” A replay of the webcast and supporting materials are available on the company’s website.
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May 22, 2024 | 
fabrydiseasenews.com | Jerry Walter |Steve Bryson |Margarida Maia |Andrea Lobo
The manifestations of my Fabry disease are much improved and now stable after more than 21 years of enzyme replacement therapy, as well as a heart transplant I had in late 2020. But Fabry continues to occasionally surprise me. In the past few years, for example, I’ve experienced unexpected eye issues. I was never too concerned about my eyes because medical literature about Fabry indicates that ocular findings typically don’t cause significant visual impairment.
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May 10, 2024 | 
fabrydiseasenews.com | Steve Bryson |Patricia Inacio |Jerry Walter |Marisa Wexler
Pregnancy increased the severity and frequency of pain among women with Fabry disease who lived with moderate pain before becoming pregnant, a study from Austria reported. Further, preeclampsia, or dangerously high blood pressure during pregnancy, occurred three times more often in Fabry women than in the general population, according to the study. Babies born to mothers with Fabry also were more likely to be born preterm, smaller, and have a lower birth weight.
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Apr 26, 2024 | 
fabrydiseasenews.com | Margarida Maia |Jerry Walter |Marta Costa Figueiredo |Mary Chapman
Nearly one-third of Danish patients in Fabry disease registries were found to have poor lung function, with obstructive airflow limitation most common among those with severe disease and smokers, a study found. People with Fabry “frequently develop an obstructive airflow limitation,” which is found “not only in smokers, but also in never smokers,” researchers wrote.
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Apr 19, 2024 | 
fabrydiseasenews.com | Marisa Wexler |Steve Bryson |Jerry Walter |Patricia Inacio
People with Fabry disease have higher-than-normal levels of three inflammatory markers in their blood, according to a recent study. These markers include elevated neopterin and biopterin levels, and an increased kynurenine-to-tryptophan ratio. The study, “Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease,” was published in the Balkan Medical Journal.
