Real-world data support the effectiveness of Scenesse (afamelanotide) in extending tolerance to sunlight among adults with erythropoietic protoporphyria (EPP), a Swiss study found. Treatment with Scenesse increased damage-free light exposure from a median of 10 minutes to three hours. The study, “Increased phototoxic burn tolerance time and…
News
Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…
The U.S. incidence of the most common form of liver cancer — called hepatocellular carcinoma (HCC) — in people with acute hepatic porphyrias (AHP) warrants cancer screening beginning at age 50, a study suggests. The study,…
The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…
When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children…
Excessive levels of estrogen associated with hormone therapy changes and risk factors such as smoking may lead to porphyria cutanea tarda (PCT) in transgender women, a case study reported. The findings add to the increasing body of evidence highlighting the higher risk of skin problems in transgender women on long-term…
Severe lack of hydroxymethylbilane synthase (HMBS) — the defective enzyme in people with acute intermittent porphyria (AIP) — led to abnormalities in mitochondria essential for cellular energy, and to depression-like symptoms in a mouse model of the disease, a study reports. The study, “Severe hydroxymethylbilane synthase…
Antiviral treatment can prevent the onset of porphyria cutanea tarda (PCT) in people with hepatitis C and urine abnormalities indicating this form of porphyria, a study found. The study, “Resolution of subclinical porphyria cutanea tarda after hepatitis C eradication with direct‐acting anti‐virals,” was published in the…
The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…
People with acute intermittent porphyria (AIP) who were treated with Alnylam Pharmaceuticals’ RNA-based therapy Givlaari (givosiran) experienced a rapid and lasting reduction in porphyria attacks — and most remained attack-free for the first six months of the ENVISION trial’s extension study. In addition, no new…
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