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September 25, 2020September 25, 2020

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

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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

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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

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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

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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

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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

August 21, 2020August 21, 2020

AHP Patients at Age 50 Should Be Screened for Liver Cancer, Study Suggests

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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 ... Read more

August 17, 2020August 17, 2020

EveryLife Foundation Launches Scholarship Fund for Rare Disease Community in US

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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. ... Read more

August 14, 2020August 14, 2020

New Streaming Channel Showcases Rare Disease Films

News, syndicated

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 ... Read more

August 7, 2020August 7, 2020

Hormone Therapy May Be Cause of Porphyria in Transgender Woman

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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 ... Read more

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