Givlaari (givosiran) may cause homocysteine, an amino acid, to rise to unhealthy levels in some people with acute intermittent porphyria (AIP), according to a recent case study of two patients. Blood levels of homocysteine should be tested in people with acute porphyrias being considered for this treatment, and checked regularly…
To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…
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,…
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…
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. …
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…
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