Rare Disease Report

Phase 3 Trials to Assess Potential Breakthrough Therapy for Patients with Cystic Fibrosis

JULY 04, 2018
Kristi Rosa
Cystic fibrosis (CF) is a disease that affects about 70,000 worldwide, and although advances have been made in the fight against the progressive genetic disease which has allowed these patients to live longer lives, additional treatment options are needed.

Now, 2 phase 3 trials are being conducted to explore a new potential breakthrough therapy including of 2 compounds—VX-659 and VX-445—which will be used as part of a triple combination modulator therapy for the disease.

Researchers postulate that the new therapy could potentially address the underlying cause of the disease as Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies are designed to fix the malfunctioning protein created by a mutated CFTR gene.

In a recent announcement, Children’s Hospital Colorado announced that their Mike McMorris Cystic Fibrosis Research and Care Center will be participating in 1 of the trials which will explore the effectiveness of VX-659 in combination with tezacaftor/vacaftor (Symdeko) for CF patients 12 years of age and older who have 1 F508del mutation and a “minimal function” mutation. To date, there is no CFTR modulator therapy available for CF patients with these mutations.

“Different mutations cause different defects in the protein produced by the CFTR gene, and the medications that have been developed so far—such as Orkambi, Kalydeco, and Symdeko—are effective only in people with specific mutations,” Edith Zemanick, MD, pediatric pulmonologist at Children’s Colorado, said in a recent statement.

The hope for the trials is to develop a combination therapy capable of effectively treating CF patients with a single F508del mutation, which would be beneficial for more CF patients than ever before when it comes to modulator therapies, she added.

The announcement of the phase 3 trials exploring a triple drug combination modulator therapy in CF patients comes after tezacaftor/ivacaftor’s approval in February 2018 for patients 12 and older who had either 2 copies of the F508del mutation or 1 mutation in the CFTR gene that is responsive to the drug based on either in vitro data and/or clinical evidence.

Children’s Colorado was involved in some of the research efforts regarding the drug in the past and is now working on a study assessing the drug in children between the ages of 6 and 11.

CF is described as a genetic, systemic disease that is known to lead to progressive lung disease which could eventually result in potential pulmonary failure. In fact, over time, the disease is estimated to cause an average decline of 1% to 3% in lung function each year. Although advances have been made in the fight against the disease, there is still no cure.

Stay informed on the latest rare disease news and developments by signing up for our newsletter.
Copyright © RareDR 2013-2018 Rare Disease Communications. All Rights Reserved.