Sponsored Content

Porphyria is associated with a significant financial healthcare burden in the United States, which is driven mainly by hospital admissions, outpatient visits, and medical bills, a study reported. The study, “Healthcare Utilization and Cost Burden of Porphyria in Commercially Insured Adults in the United States,” was published…

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 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 —…

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…