Porphyria and Sleep

If you have porphyria, you likely may regularly have trouble getting a good night’s sleep. There are ways to help remedy that. What is porphyria? Porphyria refers to a group of disorders in which affected individuals cannot make hemoglobin, the protein that binds oxygen in…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

A new study testing a light exposure measuring device designed to help people with erythropoietic protoporphyria (EPP) better manage their symptoms is recruiting participants. A total of 30 EPP patients are expected to be enrolled, along with 10 individuals without the condition, who will serve as…

If you have acute porphyria, it’s important to know that diet and nutrition may help to ease your symptoms. What is porphyria? Porphyria refers to a group of disorders in which affected individuals cannot make hemoglobin, the protein that binds oxygen in red blood cells. Due to…

A Phase 3 clinical trial of Mitsubishi Tanabe’s investigational therapy MT-7117 (dersimelagon) for people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) has been launched. The study (NCT04402489) will take place at 12 clinical sites in the U.S. and will test the therapy in adults and adolescents.

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Porphyria refers to a group of disorders in which affected individuals cannot make hemoglobin. Hemoglobin is the protein that binds oxygen in red blood cells. Due to this inability, porphyrins — chemicals that the body normally uses to make hemoglobin — build up in the body. Following are…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

The low blood sodium levels associated with acute intermittent porphyria (AIP) may also contribute to reversible splenial lesion syndrome (RESLES), a case report suggests. The study, “Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene,” was published…

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…