Scenesse (afamelanotide), an injection treatment that helps prevent sun-related skin damage in adults with erythropoietic protoporphyria (EPP) — a type of porphyria marked by skin hypersensitivity to sunlight — is now approved in Canada. Health Canada cleared the therapy, given as a subcutaneous, or under-the-skin, injection, for use…
News
A young woman whose recurrent muscle weakness and breathing problems were long mistaken for myasthenia gravis, a neuromuscular disorder, was ultimately diagnosed with variegate porphyria (VP) after advanced genetic testing uncovered a disease-causing mutation, a case report shows. “In the described case, the patient’s atypical clinical manifestations led to…
An oral small molecule called PORT-77, being developed to treat two types of porphyria, was found in a small study to rapidly reduce the toxic buildup of a compound known as protoporphyrin IX (PPIX) in blood — suggesting it could become a disease-modifying treatment for these genetic disorders, according…
Givlaari (givosiran), an approved therapy for acute hepatic porphyria (AHP), was associated with several potentially new safety signals not included in the therapy’s prescribing information, according to a large real-world safety analysis. By analyzing more than 1,200 reports of adverse events associated with Givlaari in a U.S. drug safety…
Treatment with hemin — an iron-containing medication derived from red blood cells — effectively reduced the frequency of symptomatic attacks in a middle-aged woman with acute intermittent porphyria (AIP), and also mitigated a decline in her kidney function. According to the researchers, the use of hemin, sometimes prescribed for…
Acute intermittent porphyria (AIP) is associated with a higher prevalence of high blood pressure (hypertension) and heart structural changes, according to a recent study. The results suggest that age, body mass index (BMI) — a measure of body fat based on a weight-to-height ratio — and a history of…
The experimental drug bitopertin is now available through an expanded access program for eligible patients aged 12 and older with erythropoietic protoporphyria (EPP), allowing them to receive the oral treatment while it continues to be tested in late-stage clinical studies. “Recognizing the urgent need for new treatment options for…
The Global Porphyria Advocacy Coalition (GPAC) announced that an international database focused on the safety of medications for people with acute porphyria is now available in Spanish. People with certain types of porphyria may experience attacks of worsening symptoms after using certain commonly prescribed medications. The Norwegian…
A blood stem cell transplant, often called a bone marrow transplant, may effectively treat children with congenital erythropoietic porphyria (CEP), although complications remain common, according to a French study. The researchers found that the procedure, also known as HSCT, for hematopoietic stem cell transplantation, resolved disease symptoms in most children,…
May 18 is Global Porphyria Day, and advocates worldwide are planning several initiatives to raise awareness of this group of genetic diseases — and improve understanding of the challenges of living with porphyria. “As a rare disease, porphyria is often unheard of, unseen and misunderstood,” the United Porphyrias…
Recent Posts
- Porphyria treatment now approved in Canada to prevent sun skin damage
- Genetic testing reveals young woman’s porphyria after years of misdiagnosis
- New oral drug shows big promise in small trial as a porphyria treatment
- Safety study points to possible new side effect signals in AHP treatment
- The extraordinary people who make life better for the porphyria community
- Treatment with hemin delays dialysis, slows kidney decline in woman with AIP
- New AIP study finds higher rates of hypertension, heart changes
- Program provides early access to experimental EPP treatment
- Acute porphyria drug safety database now available in Spanish