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Trial Underway to Test Mutation Fix for Cystic Fibrosis

Illustration of lungs (Mikael Häggström/Wikimedia Commons)

(Mikael Häggström/Wikimedia Commons)

12 March 2014. An early-stage clinical trial is underway testing the safety and chemical activity of a drug designed to correct a genetic mutation causing cystic fibrosis. The study, sponsored by N30 Pharmaceuticals Inc. in Boulder, Colorado — the drug’s inventor — aims to enroll up to 40 healthy adults.

Cystic fibrosis is an inherited disease of the glands that make mucus, a substance keeping the lungs and airways moist, as well as helping prevent infection. The disease results from mutated genes passed from each parent to their children. With cystic fibrosis, the mucus becomes thick and sticky, and builds up in the lungs and airways. The build-up of mucus can also affect the pancreas, liver, intestines, and other organs.

The accumulation of mucus makes it easier for bacteria to grow, leading to repeated lung infections. The build-up of mucus in the pancreas can likewise block ducts in the pancreas, interrupting the flow of enzymes for digestion.

N30 Pharma develops therapies that preserve the activity of S-nitrosoglutathione or GSNO, a chemical in the body influencing nitric oxide signaling, a basic cellular function associated with organ repair, regeneration, and healing. Therapies designed by the company aim to inhibit the functioning of proteins that degrade or counter the effects of GSNO, and restore the body’s normal GSNO levels.

Reduced GSNO levels, says N30 Pharma, are associated with cystic fibrosis. GSNO, with its effects on nitric oxide signaling, helps maintain normal functioning of cystic fibrosis transmembrane conductance regulator or CFTR, the defective protein in cystic fibrosis. The deletion of a key amino acid in the CFTR gene is the most common mutation in cystic fibrosis patients, with nearly half (48%) having two copies of the mutation and four in 10 (39%) with one copy.

N30 Pharma’s test drug, code-named N91115, is designed to reduce the effects of the GSNO inhibitors, thus improve nitric oxide signaling, interrupted among cystic fibrosis sufferers. The company says preclinical tests in lab cultures and with mice show reducing the effects of GSNO inhibitors acts to correct the CFTR gene mutation. The studies also show the drug improves anti-inflammatory and bronchial functions.

The early-stage clinical trial is testing the safety and tolerability of N91115, an oral-administered drug, in various dose levels for two weeks, and against a placebo with up to 40 adult volunteers. The study is also measuring the chemical activity of the drug, through measures of plasma concentrations of N91115 and its metabolized form.

N30 Pharma is also testing in an early trial a related compound, code-named N6022, which as well aims to reduce the effects of the GSNO inhibitor. N6022 is an intravenous drug, while N91115 is taken orally.

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