Rare Diseases Get Their Turn in the Spotlight


By Staff Reports

(DGIwire) – Held on the last day of February each year, Rare Disease Day shines a spotlight on an issue that affects as many as 30 million Americans, according to the National Institutes of Health. There are about 7,000 rare diseases, reports PharmaVOICE, most of which are genetic in origin; in the U.S., a disease is considered rare if it affects fewer than 200,000 people. On this day, hundreds of patients’ groups from around the world hold a host of activities to raise awareness about these conditions.

Diagnoses for rare diseases are frequently elusive even when genetically based, PharmaVOICE notes; definitive therapeutic options are nonexistent for more than 95 percent of them. Rare Disease Day offers a much-need opportunity to focus on advocating for more research.

“Spreading awareness through events such as Rare Disease Day can serve as a powerful motivation for patients with rare diseases to enroll into clinical studies that could potentially result in more effective treatments,” says Gur Roshwalb, M.D., CEO of Akari Therapeutics. “I and my company are involved directly in this type of effort.

In May 2016, Akari Therapeutics was granted an Orphan Drug Designation by the FDA for its lead clinical product, Coversin, for the treatment of Guillain-Barré Syndrome (GBS). According to the National Institutes of Health, GBS is a disorder in which the body’s immune system attacks part of the peripheral nervous system. In September 2016, the company was granted another Orphan Drug Designation by the FDA for Coversin for the treatment of paroxysmal nocturnal hemoglobinuria (PNH), an ultra-rare, life-threatening and debilitating disease of the blood.

Also in May 2016, the company received a positive opinion for Orphan Drug Designation for Coversin in the EU for GBS—and two months later, received another positive opinion for Coversin in the EU for PNH. These opinions were issued by the European Medicines Agency Committee for Orphan Medicinal Products. The opinions are then submitted to the European Commission for decision.

Recently, the FDA allowed an Investigational New Drug Application (IND) for the clinical development of Coversin in patients with PNH. The FDA’s allowance of the IND permits Akari to expand its clinical program for the development of Coversin in PNH to the United States. Akari has one currently treated eculizumab-resistant PNH patient who has been on Coversin for more than a year pursuant to an approved clinical protocol in the Netherlands, and it plans to open this ongoing Phase II trial of Coversin in eculizumab-resistant PNH in the United States.

Coversin is designed to inhibit the action of the protein C5 and ecosanoid LTB4, molecules that play key roles in a component of the immune system called the complement system and in the inflammatory system. Ordinarily, the complement system helps disable and clear out foreign invaders and unwanted cells, but when C5’s variants are produced in unregulated numbers, the result can trigger life-threatening inflammatory and autoimmune conditions, such as GBS and PNH. Further, LTB4 attracts white blood cells (neutrophils) to the area of inflammation, increasing the inflammatory reaction. Coversin has shown promise as a combination C5 and LTB4 inhibitor.

“Rare diseases like GBS and PNH are urgently in need of new approaches and we are excited to be working on the cutting-edge of discovery,” Roshwalb adds.

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