Three women in Nepal were diagnosed with the rarest type of porphyria, called congenital erythropoietic porphyria or CEP, as described in a recent case report. Genetic analyses revealed the presence of a rare mutation in the UROS gene, one of the two genes underlying CEP, in two of…
News
Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in grants, totaling up…
Soriatane (acitretin), a medication normally used to treat the skin disorder psoriasis, was found to alleviate bone defects in a new zebrafish model of congenital erythropoietic porphyria, or CEP, a study reports. The medicine worked to ease bone defects driven by the accumulation of the molecule uroporphyrin-I in the…
Porphyria News is conducting an online survey with the goal of gaining greater insight into the characteristics of the porphyria community, their experiences in managing the disease, and their needs. It takes an all-comer approach, meaning everyone is invited to participate, including patients, caregivers, family members, researchers, and…
Poorly working mitochondria — small energy-producing cell compartments — may drive muscle weakness or wasting in a new mouse model of porphyria, a study suggests. “In some cases, muscle atrophy [is] present in porphyria; however, the underlying mechanism is still unknown,” its authors wrote. These findings may therefore provide…
Note: This article was updated to include information from a Hopkins study published on May 5, 2021, of responses after a second vaccine dose was given to transplant patients. Long before COVID-19 changed the world, organ transplant recipients were wearing masks to shield themselves from airborne threats. Immunosuppressive medicines, which often…
Patients with acute hepatic porphyria (AHP) and their caregivers face a high disease burden and diminished well-being, a recent U.K. survey has found. These patients also have diverse experiences in severity of attacks, managing symptoms, and accessing appropriate treatment. …
Insulin resistance, a phenomenon in which cells in the body become unable to draw energy from blood sugar, appears to be more common in people with acute intermittent porphyria (AIP) than previously thought, according to a recent study. Investigators also noted that experiments performed in a mouse model indicated…
More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…
Six months of treatment with Givlaari (givosiran) effectively reduced pain during and between porphyria attacks in people with acute hepatic porphyria (AHP), also known as acute porphyria, according to a post-hoc analysis of data from the Phase 3 ENVISION trial. Givlaari also was found to lower the use of…
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