Dicerna Pharmaceuticals has dosed the first patient with primary hyperoxaluria in Group B of a clinical trial of the investigational drug DCR-PHXC. Dicerna has also announced that DCR-PHXC has just been awarded Orphan Drug designation by the US Food and Drug Administration (FDA) for the treatment of primary hyperoxaluria. The full article can be read here, at Dicerna.
Primary hyperoxaluria (PH) is a group of genetic conditions that affect the kidneys. It is caused by the overproduction of oxalate, which is usually excreted in the urine. However, in people with PH, oxalate often binds with calcium and collects in the kidneys and organs. This frequently causes kidney and bladder stones, and can also lead to urinary tract infections, blood in the urine, damage to the kidneys and other organs, and, in some cases, end-stage renal disease if the kidneys stop functioning effectively. High oxalate levels can also lead to deposits of the substance around the body, causing damage.
There are three main forms of PH, called PH 1, 2, and 3, as well as idiopathic (unknown cause) PH. Each of the three numbered forms is linked to a different genetic mutation and resulting enzyme deficiency. PH1 is the most common and is the form that about 80% of the people with the condition have. PH2 and PH3 each account for approximately 10% each. Worldwide, PH is thought to affect one in every 58,000 people. However, treatment options are currently limited for patients.
