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As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

A brain imaging technique called SPET/CT effectively detects mild-to-moderate blood flow defects in patients with congenital erythropieetic porphyria (CEP) and may be superior to  magnetic resonance imaging (MRI) scans, a case study reports. The research, “Brain perfusion defects by SPET/CTand neurostat semiquantitative analysis in two patients with congenital…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

Chronic, undiagnosed skin symptoms may precede liver disease in erythropoietic protoporphyria (EPP), the most common type of porphyria in children, a case study reports. The study, “Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease,” appeared in the journal Pediatrics. EPP patients typically have skin manifestations in…

Relapses are more frequent among porphyria cutanea tarda patients who had previously achieved remission with antimalarial medications, a study shows. The study, “Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4‐aminoquinoline antimalarial: A Meta‐analysis,” was published in the British Journal of Dermatology.

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

Acute intermittent porphyria (AIP) patients who have recurrent attacks are more likely to be sicker and unemployed, yet face higher medical costs than patients with occasional attacks, researchers in The Netherlands report. Their study, “Medical and financial burden of acute intermittent porphyria,” was published in the Journal of…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to AMP-L2.7.D7 (ciclopirox) for treatment of Congenital Erythropoietic Porphyria (also known as Gunther’s disease). AMP-L2.7.D7, developed by Atlas Molecular Pharma, is a pharmacological chaperone — a molecule that binds to uroporphyrinogen III synthase, the…

Investigative drug candidate givosiran significantly reduced porphyria attacks in two clinical trials, according to a recent presentation at the European Association for the Study of the Liver (EASL) 53rdAnnual International Liver Congress, in Paris, France. The presentation on the safety and efficacy data of givosiran in patients…