The Canadian Agency for Drugs and Technology in Health, called CADTH, has recommended that Givlaari (givosiran) be reimbursed by public plans — if certain conditions are met — when it’s used to treat adults with acute hepatic porphyria (AHP). One condition, according to CADTH, is that the therapy’s…
Recurrent attacks in people with acute hepatic porphyria (AHP) are associated with lower lifetime earnings and pose a higher burden to public health, particularly in disability and healthcare costs, a Belgian study reports. Indeed, the costs of lifetime healthcare for patients in Belgium who are unable to work due…
The prevalence of advanced liver disease — including fatty liver disease — in patients with erythropoietic protoporphyria (EPP) is similar to that of the general population, according to a new Dutch study. Investigators also noted that the levels of protoporphyrin IX or PPIX, a heme precursor that tends…
Complaints of abdominal pain with no apparent cause during physical examination, accompanied by neuropsychiatric symptoms such as confusion and agitation, may be indicative of an acute porphyria attack, according to a recent case report. The study highlighted the importance of promptly performing urine screening tests and starting treatment…
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…
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…
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…
The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…
Rapid and severe damage to peripheral nerves, those sending sensory and motor information from the brain and spinal cord to the rest of the body, can be a rare sign of acute intermittent porphyria (AIP), a case report suggests. Early diagnosis of AIP is key in avoiding serious nerve…
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