News

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…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

Once-monthly injections of givosiran can safely reduce the rate of recurrent porphyria attacks by effectively reducing disease-triggering neurotoxic compounds, data from a Phase 1 clinical trial suggests. The trial findings were reported in a study, “Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…

Researchers described the case of a Japanese patient with familial porphyria cutanea tarda (PCT) carrying a previously unreported mutation in the UROD gene. The case report, “The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation,” appeared in the Journal…

Differential responses to blood vessel contraction and widening may underlie hypertension in patients experiencing acute intermittent porphyria (AIP) attacks, according to a mouse study. In addition, the differences found between male and female mice in the study may help explain the greater incidence of AIP attacks in women. The study,…