News

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 diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

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 results from the ENVISION trial are intended to support the application for regulatory approval that givosiran’s manufacturer Alnylam Pharmaceuticals is planning…

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 says. The findings of the study, “Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide…

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 man. The study, “Harderoporphyria: Case of lifelong photosensitivity associated with T compound heterozygous coproporphyrinogen oxidase (CPOX) mutations“ was published in the…

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 case study, “Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report,” was published in World…

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. The study, “Benefits of prophylactic heme therapy in severe acute intermittent porphyria,” was published in Molecular Genetics and…

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 this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

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 with givosiran significantly reduced the annualized rate of porphyria attacks requiring hospitalization, urgent healthcare visits, or hemin administration at home…

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 to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…