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May 24, 2019May 24, 2019

Acute Hepatic Porphyria Patients Have Defects in Cellular Energy Production, Pilot Study Suggests

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People with acute hepatic porphyria (AHP), with moderate to severe symptoms, have a deficiency in mitochondrial function — meaning that their cells’ “power plants” don’t work properly, according to ... Read more

May 20, 2019May 20, 2019

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been ... Read more

April 26, 2019April 26, 2019

Givosiran Treatment Leads to 74% Drop in Acute Hepatic Porphyria Attacks, Phase 3 Data Show

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Treatment with investigational RNA-based therapy givosiran can safely reduce the annual incidence of acute hepatic porphyria (AHP) attacks, according to final results from a Phase 3 clinical trial. These positive ... Read more

April 12, 2019April 12, 2019

PCT Patients More Likely to Develop Certain Cancers, Die Prematurely, Study Says

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Patients with porphyria cutanea tarda have higher risks of developing liver and other types of cancer and of dying prematurely compared to individuals from the general population, a study ... Read more

April 5, 2019April 5, 2019

Two Previously Unknown Mutations Identified in Rare Case of Harderoporphyria

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Researchers identified two previously unknown mutations in the coproporphyrinogen oxidase (CPOX) gene as the underlying cause of a rare form of hereditary coproporphyria, called harderoporphyria, in a 78-year old ... Read more

March 29, 2019March 29, 2019

Case Report Highlights Need for More Awareness of Different Porphyria Subtypes Among Doctors

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A case involving a patient with erythropoietic protoporphyria (EPP) accompanied by liver damage highlights the need for increased awareness of porphyria among doctors making diagnoses, a case study reports. The ... Read more

March 22, 2019March 22, 2019

Preventive Heme Therapy Decreases Attacks and Improves AIP Patients’ Quality of Life, Study Finds

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Prophylactic (preventive) treatment with heme reduces the frequency of acute attacks, improving the quality of life and reducing healthcare costs of patients with acute intermittent porphyria, a study has found. ... Read more

March 15, 2019March 14, 2019

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

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Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of ... Read more

March 14, 2019March 14, 2019

Givosiran Cuts Rate of Attacks in Acute Hepatic Porphyria, Trial Shows

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Alnylam Pharmaceuticals has announced that its investigational therapy givosiran achieved the primary efficacy and the majority of secondary endpoints in the ENVISION Phase 3 trial with acute hepatic porphyria patients. Treatment ... Read more

March 13, 2019March 13, 2019

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

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With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed ... Read more

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