A man with porphyria cutanea tarda (PCT) linked to a chronic hepatitis C virus infection was successfully treated for both conditions with direct-acting antiviral agents. Researchers considered this case notable for the patient’s dramatic recovery, and the lack of excessive iron in his liver,…
Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…
Disc Medicine has entered into an exclusive worldwide licensing agreement to develop and commercialize Roche’s bitopertin, an oral candidate therapy for blood disorders. Disc will initially develop bitopertin for erythropoietic porphyrias, a group of porphyrias that mainly affect red blood cells and bone marrow. The company is planning…
Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…
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…
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…
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