The American Porphyria Foundation is joining with others in asking people with acute hepatic porphyria to participate in the Porphyria Worldwide Patient Experience Research (POWER) study.
Participation is in the form of a survey, estimated to take about 30 minutes to complete, according to announcement on the foundation’s website.
This survey aims to better understand the emotional, mental, and physical burden that acute hepatic porphyria places on people with the disorder, as well as on family and friends. Broadly, its goal is to better understand the needs of people with porphyria, through a greater understanding of the disease, how its manifestations change over time, and the toll it takes on people.
Individual results from the survey will be kept confidential. A direct link to the survey can be found here.
The POWER study is being conducted by Kantar, an independent research agency, and is sponsored by Alnylam Pharmaceuticals. The company markets Givlaari (givosiran), an injection treatment for acute hepatic porphyria approved for adults in the U.S., and individuals ages 12 and up in the European Union.
Alnylam will use survey findings to help in efforts to increase education and awareness about porphyria among medical and healthcare professionals, as well as patients and caregivers.
There are four types of acute hepatic porphyria: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and the rarer delta-aminolevulinic acid dehydratase deficiency porphyria (ADP).
All are characterized by impairments in the body’s ability to produce heme, a component of hemoglobin — the molecule that is used to ferry oxygen through the bloodstream — and of a cellular process that produces energy. Because of this, porphyrins (heme precursors) build up in the body, with toxic effects.
Each type is caused by distinct genetic mutations — for example, HCP is caused by mutations in the gene CPOX, whereas VP is caused by mutations in the PPOX gene. Symptoms vary among the different types as well; for example, cutaneous (skin-affecting) symptoms are more common in VP and ADP than in AIP or HCP.
In addition to the American Porphyria Foundation, the survey is being conducted with assistance from the patient advocacy groups Global Porphyria Advocacy Coalition and International Porphyria Patient Network.
Marisa holds an MS in Cellular and Molecular Pathology from the University of Pittsburgh, where she studied novel genetic drivers of ovarian cancer. She specializes in cancer biology, immunology, and genetics. Marisa began working with BioNews in 2018, and has written about science and health for SelfHacked and the Genetics Society of America. She also writes/composes musicals and coaches the University of Pittsburgh fencing club.
