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The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

Two previously unreported mutations were found in a man and his mother with variegate porphyria affecting the skin only, a new case study reports.  This finding may help healthcare professionals better understand the connection between specific genetic mutations and disease development…

People with porphyria cutanea tarda (PCT) report a fairly average health-related quality of life (HRQoL) overall, but they seem to have poorer general health and more issues with work and other activities due to emotional problems than the general population in the U.S., a study in patients in Norway…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

Vision loss in both eyes can be a sign of acute porphyria in children when associated with unexplained abdominal pain, a case report suggests. Proper treatment can also successfully reverse this vision loss, according to the report, which was titled “Bilateral reversible visual loss secondary to…

People with acute hepatic porphyria (AHP) are more likely to file for long-term sick leave and disability pension, but are not at more risk of premature death than the general population, a nationwide study from Norway found. The study, “Sick leave, disability, and mortality in acute…

Alnylam Pharmaceuticals is not expecting the production and supply of Givlaari (givosiran), a treatment for acute hepatic porphyria (AHP), to be affected by the COVID-19 pandemic, the company said. Besides Givlaari, Alnylam also markets Onpattro (patisiran), which is approved in the U.S. for treating …

To help patients and families facing out-of-pocket medical costs, The Assistance Fund (TAF) has opened a new program for eligible individuals living with porphyria. The TAF Porphyria Financial Assistance Program helps with therapy-related copayments, health insurance premiums, and incidental medical expenses related to the metabolic disorder, which has…

The European Commission has approved Givlaari (givosiran) to treat acute hepatic porphyria in patients, 12 and older, in the European Union. This follows Givlaari’s approval for the same indication in the U.S., and the positive recommendation recently issued by the Committee for Medicinal…

Adult patients with erythropoietic protoporphyria (EPP) who live in the United States can now be treated with Scenesse (afamelanotide) to increase their tolerance to sunlight. Scenesse has been approved by the U.S. Food and Drug Administration (FDA) to treat EPP patients who have a history of phototoxic reactions…