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Most acute intermittent porphyria patients spoke in a small study of experiencing chronic symptoms in addition to acute attacks, and felt they significantly affected their ability to go about many activities that make up daily life. The study, “Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease…

A newly identified mutation in the HMBS gene was found to be linked to acute intermittent porphyria in a patient in China. The case report,  “Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type…

Patients with acute intermittent porphyria (AIP) have reduced quality of life, particularly physical health, a study has concluded. However, the authors also recommend focusing more attention on patients’ mental health. The study titled, “Acute Intermittent Porphyria in the North of China: The Acute Attack Effect on Quality of…

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),…