It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.  “The hardest…
A Phase 3 clinical trial of MT-7117 (dersimelagon), Mitsubishi Tanabe Pharma‘s experimental treatment for erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), is now enrolling participants at three sites in the U.S. The three locations are in Winston-Salem, N.C., Columbus, Ohio, and Boston. More information on the trial sites, including…
Scientists discovered six new mutations in the HMBS gene associated with acute intermitent porphyria (AIP) in a group of Spanish patients. Besides expanding knowledge of the molecular basis of AIP in Spain, the investigators suggest these findings also may help identify individuals who carry these mutations, but…
A long-term study seeking to deepen the understanding of the natural history of porphyrias — both acute, typically affecting the nervous system, and cutaneous, which causes skin symptoms — is recruiting participants. The Longitudinal Study aims to assess the prevalence of specific indicators of disease severity, and to…
Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…
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…
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…
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