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Ataluren Trial in Hemophilia Patients with Nonsense Mutations

PTC Therapeutics, Inc. announced in late October that it is expanding the development of Ataluren PTC124®, an investigational new drug, to a third indication—hemophilia. The other indications are for muscular dystrophy and cystic fibrosis. 


The announcement marks the initiation of a Phase 2a clinical trial in patients with hemophilia who have a type of genetic mutation known as a “nonsense mutation.” Nonsense mutations occur in both hemophilia A (nmHA) and hemophilia B (nmHB); they account for approximately 10% to 30% of all hemophilia cases. In hemophilia, a nonsense mutation occurs when an interruption in the genetic code--a change in part of the DNA strand--causes a disruption of the "translation" of key genetic messages. This premature disruption then blocks the synthesis of factor VIII (hemophilia A) and factor IX (hemophilia B) proteins, causing poorly functioning clotting factors and often severe bleeding symptoms.


“We are excited about the initiation of this proof-of-concept trial of Ataluren in patients with nonsense mutation hemophilia, a more severe form of the disorder with a great need for alternative treatment options,” said Langdon Miller, MD, Chief Medical Officer of PTC Therapeutics.


The purpose of this multi-center, open-label trial is to evaluate the activity, safety and pharmacokinetics of Ataluren in approximately 24 adult male patients with nmHA or nmHB. The primary goal of the trial, which consists of two 14-day treatments at two different dose levels, is to determine if Ataluren can safely improve FVIII and FIX functioning.


“We are very pleased to be part of this groundbreaking trial,” stated Kathy High, MD, principal investigator at The Children's Hospital of Philadelphia. “HA and HB are chronic, disabling and potentially life-threatening genetic disorders, and there is a significant need for new strategies for preventing bleeding complications. For patients with nonsense mutation hemophilia, even a small increase in FVIII or FIX could be very beneficial. As an oral therapy, Ataluren has the potential to offer a noninvasive treatment option.”


In early December, PTC Therapeutics announced that it had received a $1 million Challenge Grant from the National Heart Lung, and Blood Institute, one of the National Institutes of Health. The grant was one of 840 grants given to stimulate research. The two-year grant will support the Phase 2a trial of Ataluren.


Source: PTC Therapeutics news releases dated October 26 and December 2, 2009