Going Out in the Sun When You Have Porphyria

Exposure to sunlight can affect people with cutaneous porphyrias (largely marked by fragility of sun-exposed skin), and two types of acute porphyrias — variegate porphyria, or hereditary coproporphyria. The severity of the reaction, however, differs among patients. Why is sun exposure a problem? In some kinds of…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

People with acute intermittent porphyria (AIP) who were treated with Alnylam Pharmaceuticals’ RNA-based therapy Givlaari (givosiran) experienced a rapid and lasting reduction in porphyria attacks — and most remained attack-free for the first six months of the ENVISION trial’s extension study. In addition, no new…

Diseases that are characterized by high levels of porphyrins in the blood, urine, and tissues, are grouped under the name porphyrias. It’s important to discuss with your doctor the risks of pregnancy with porphyria, and any potential harm that medications you are taking might cause the fetus. Can patients…

Porphyria refers to a group of rare diseases characterized by high levels of porphyrins in the blood, urine, and tissues. What are porphyrins? Porphyrins are ring-shaped molecules that undergo a series of chemical changes to produce heme — an important component of the protein hemoglobin, which…

There’s currently no cure for porphyria, and only a few therapy options are available to treat the symptoms of this group of rare inherited blood disorders. None of them address the cause of the underlying disease. Participating in clinical trials is a way to help researchers develop…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

Alnylam Pharmaceuticals has awarded a total of $270,000 to seven patient advocacy groups, including the American Porphyria Foundation (APF), in the company’s Advocacy for Impact grants program. The second annual program, designed to help advocacy groups address unmet needs in rare diseases, will be funding projects that look to promote…

Porphyria is a rare disease that affects fewer than 200,000 people in the U.S. Many physicians are, therefore, unfamiliar with it and its treatment. This could be a major problem, particularly in a medical emergency. If you have the disease, working with your primary doctor to develop and…

People with acute intermittent porphyria (AIP) who were treated with Alnylam Pharmaceuticals’ RNA-based therapy Givlaari (givosiran) had a 74% reduction in porphyria attacks and sustained decreases in toxic products over six…