Treatment with the oral therapy bitopertin substantially increased sunlight tolerance for adults with erythropoietic protoporphyria (EPP) in a Phase 2 clinical trial, according to data on all its adult participants. The experimental treatment also significantly reduced levels of protoporphyrin IX (PPIX) and improved quality of life for most patients.
Treatment with Givlaari (givosiran) successfully resolved acute attacks of acute intermittent porphyria (AIP) in a 36-year-old woman who had been experiencing recurrent bouts of abdominal pain over the prior three years. According to researchers, this is the first report supporting the use of Givlaari “as an effective therapeutic…
I walked across the Court Avenue bridge into downtown Des Moines, Iowa, accompanied by Michael, my spouse. We were greeted by smells of fresh coffee and breakfast sandwiches. It was late October and one of the last outdoor farmers markets of the year. I bought an apple cider in a…
A rarely reported mutation in the HMBS gene was identified as the cause of recurrent, hard-to-treat episodes of acute intermittent porphyria (AIP) in a young Mexican woman, according to a case report. While it’s unclear whether the mutation is linked to a more severe clinical presentation, its identification “underscores…
Disc Medicine has been granted a U.S. patent for treating erythropoietic protoporphyrias (EPPs) with glycine transport inhibitors, such as its investigational oral therapy bitopertin. “We are pleased to have been issued this patent that further secures [intellectual property] protection for bitopertin for the treatment of erythropoietic protoporphyria as…
I thought I might never get over the loss I felt upon learning I had acute hepatic porphyria. In my early 30s, I lost my job, my ability to do traditional full-time work, and my medical coverage, and I couldn’t find an in-state provider to take my case. The…
I recently returned from The International Porphyrias Symposium 2023 fueled with energy. The conference, held Oct. 26-29 in Bethesda, Maryland, featured a blend of scientific minds and patient experiences. Every handshake and shared story felt like a collective step forward in understanding the group of genetic disorders known as…
The BEACON and AURORA Phase 2 clinical trials testing the investigational oral therapy bitopertin in people with erythropoietic porphyrias have completed enrollment, according to an update from therapy developer Disc Medicine. BEACON (ACTRN12622000799752), which began enrolling adults with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) at sites…
A man with erythropoietic protoporphyria (EPP) and severe liver disease successfully underwent a rare, live-donor liver transplant with his wife as the donor of a portion of the organ, according to a recent case report. Special precautions, including light protection and medication adjustments, were taken due to the man’s…
Every October, the Midwest Alliance for Mindfulness (MAM) hosts a silent retreat in the woods outside of Kansas City, Missouri. For five days, I volunteered not to speak. I knew it would be difficult, but nothing prepared me for what would actually happen. We arrived on Sunday afternoon to…
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