News

October 9, 2020October 9, 2020

EPP Prevalence in UK Higher Than Estimated, Analysis Reveals

News

A recent large analysis indicates that the prevalence of erythropoietic protoporphyria (EPP) is nearly 2.3 times higher than previously estimated in the U.K. The analysis of the UK Biobank data set, ... Read more

October 8, 2020October 8, 2020

Same But Different Asks Public to Vote on ‘Glimmer of Hope’ Calendar Photos

News, syndicated

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare ... Read more

October 2, 2020October 2, 2020

Porphyria Linked With Significant Financial and Healthcare Burden in US

News

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, ... Read more

September 30, 2020September 30, 2020

Efforts Continue Beyond Awareness Month to Expand Newborn Screening Panels in US

News, syndicated

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 ... Read more

September 25, 2020September 25, 2020

Phase 3 Trial Testing MT-7117 for EPP, XLP Now Enrolling at 3 US Sites

News

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. ... Read more

September 18, 2020September 18, 2020

Scientists in Spain Discover New HMBS Gene Mutations Associated With AIP

News

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 ... Read more

September 11, 2020September 11, 2020

US Natural History Study of Porphyrias Now Recruiting Participants

News

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 — ... Read more

September 4, 2020September 3, 2020

Same But Different Photo Contest Celebrates People With Rare Diseases

News, syndicated

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 ... Read more

August 28, 2020August 28, 2020

Scenesse Increases Sunlight Tolerance in Adults With EPP, Real-world Data Show

News

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 ... Read more

August 26, 2020August 26, 2020

Xperiome Platform Aims to Streamline Searches for Rare Diseases, Gain Patient Input

News, syndicated

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 ... Read more

Pin It on Pinterest