Scenesse (afamelanotide) will be made available in China for people with erythropoietic protoporphyria (EPP), following the partnership between the treatment’s developer, Clinuvel, and the Chinese company Winhealth Pharma. The companies will collaborate to provide Scenesse — the first approved treatment for EPP — to large…
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…
As the number of Americans infected with COVID-19 surpasses one million, it’s no surprise that people with rare diseases — whose immune systems were generally compromised even before the outbreak — are particularly terrified of this pandemic. That fear is evident in an online survey conducted by the National…
FFF Enterprises and Bionews announced today that both rare and orphan disease advocates are joining forces to provide patients with resources to help them connect as a community and continue to manage their health during this time when many are finding themselves alone. Recognized as the nation’s leading supplier of…
While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…
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…
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