Porphyria is an inherited rare disorder that affects the nervous system or skin and may cause abdominal pain. Cells of porphyria patients are unable to change body chemicals called porphyrins and its precursors into heme, the substance responsible for blood color. According to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the exact rates of porphyria are unknown and vary globally.

For instance, porphyria cutanea tarda is most common in the U.S., and variegate porphyria is frequent in South America. Some porphyrias such as erythropoietic protoporphyria, hepatoerythropoietic porphyria, and congenital erythropoietic porphyria occur when an individual receives two abnormal genes, one from each parent. The chances of an individual passing the abnormal gene or genes to the next generation depends on the type of porphyria. Acute porphyrias affects the nervous system and abdomen. Its attacks develop over hours or days and can last up to several weeks.

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Cutaneous porphyrias affects the skin. According to the American Porphyria Foundation, acute porphyria affects around 1 to 2 individual per 100,000. High incidence rate was reported in South Africa and Sweden. The foundation promotes comprehensive care necessary for treating individuals with Porphyria. It promotes the disease awareness, reduce the stigma associated with porphyria through physician education, and provides support for those affected. The foundation also organized the Porphyria Awareness Week in April 2018, 21-28.

Porphyria Treatment Market Dynamics

The most common tests used for porphyrias diagnosis are measurements of substances such as porphyrin precursors and porphyrins, in blood plasma, red blood cells, feces, and urine. Measuring enzymes in cells and mutations in DNA is useful for confirmation and family studies.

Porphyria Cutanea Tarda (PCT) is the most common and treatable form of porphyria and occurs, due to deficiency of the enzyme, uroporphyrinogen decarboxylase (UROD). PCT is a genetic disorder, however, some people have a genetic (autosomal dominant) deficiency of UROD that results in growth of PCT.

Porphyria treatment Market Regional Insights

Regional segmentation of porphyria treatment market by Coherent Market Insights includes North America, Latin America, Europe, Asia Pacific, Middle East, and Africa. North America and Europe are expected to generate significant revenue share in the porphyria treatment market, owing to high presence of major industry players launching new products and conducting R&D for novel product development.

For instance, in April 2018, Alnylam Pharmaceuticals, the leading RNAi therapeutics company, presented new results from the Phase 1 and Phase 1/2 open-label extension (OLE) studies of givosiran (RNAi therapeutic) targeting aminolevulinic acid synthase 1 (ALAS1) for the treatment of acute hepatic porphyrias. These results were presented at the European Association for the Study of the Liver (EASL), France.

Porphyria Treatment Market Competitive Landscape

Key players operating in the porphyria treatment market include ACON Laboratories, Inc., Bio-Rad Laboratories, Inc., Dahaner, Hoffmann-La Roche Ltd, Siemens AG, ARKRAY, Inc., and Sysmex Corporation. Industry players are working towards development of new treatments for the disease.

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