Author Archives: Marisa Wexler MS

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…

Voting is underway for the 2021 Pet Calendar Contest organized by the American Porphyria Foundation (APF). Through Oct. 30, people can vote for their favorite pets, with each vote requiring a $2 donation. Information about the competing pets, as well as links to make vote and add an…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Vision loss in both eyes can be a sign of acute porphyria in children when associated with unexplained abdominal pain, a case report suggests. Proper treatment can also successfully reverse this vision loss, according to the report, which was titled “Bilateral reversible visual loss secondary to…

Alnylam Pharmaceuticals is not expecting the production and supply of Givlaari (givosiran), a treatment for acute hepatic porphyria (AHP), to be affected by the COVID-19 pandemic, the company said. Besides Givlaari, Alnylam also markets Onpattro (patisiran), which is approved in the U.S. for treating …

The European Commission has approved Givlaari (givosiran) to treat acute hepatic porphyria in patients, 12 and older, in the European Union. This follows Givlaari’s approval for the same indication in the U.S., and the positive recommendation recently issued by the Committee for Medicinal…

Regular removal of blood, through a procedure called phlebotomy, reduced symptoms and porphyrin levels in a person with congenital erythropoietic porphyria (CEP), likely by reducing iron levels in the body, according to recent case report that recommends targeting iron levels as a strategy to manage the disease.

Isoniazid, an antibiotic to treat tuberculosis, produces promising results in mice with erythropoietic protoporphyria (EPP), but the standard dose is not high enough to have an effect in humans, a pilot study finds. The study, “Results of a pilot study of isoniazid in patients with…

Alnylam Pharmaceuticals and Ironwood Pharmaceuticals are joining forces to better inform healthcare professionals about givosiran, Alnylam’s potential therapeutic for acute hepatic porphyria (AHP). Givosiran (also known as ALN-AS1) is an RNA-based therapy that works by blocking the activity of the enzyme aminolevulinic acid synthase 1 (ALAS1), whose loss stops…

Forty previously unreported mutations in the HMBS gene have been identified and found to be associated with the development of acute intermittent porphyria. Researchers at the Icahn School of Medicine at Mount Sinai, New York, described the mutations in the study “…