Drug fights cystic fibrosis

Feb 05, 2008

An experimental drug that has proven effective in treating muscular dystrophy also works for cystic fibrosis, according to researchers at the University of Alabama at Birmingham (UAB).

The new study is the latest on a compound called PTC124, which helps to “rescue” faulty proteins that lead to illnesses. The drug holds promise in treating more than 2,400 genetic diseases caused by a certain class of DNA mutation.

In the UAB tests performed on mice, PTC124 restored to normal function up to 29 percent of the cases of abnormal cystic-fibrosis (CF) protein.

The findings are published in the online version of the journal Proceedings of the National Academy of Sciences and will soon appear in a print edition.

The study adds to research published last year in the journal Nature, which showed PTC124 restored up to 25 percent of the missing or abnormal protein function in mice with Duchenne muscular dystrophy.

“Our study shows strong pre-clinical evidence that PTC124 is capable of suppressing ‘nonsense mutations’ that cause cystic fibrosis,” said David Bedwell, Ph.D., professor in the UAB Department of Microbiology and lead author on the study. “We think this provides strong evidence for clinical trials with PTC124 in CF patients with this kind of mutation.”

A gene that carries a ‘nonsense mutation’ produces a shortened or faulty protein that degrades in the body. The absence of that protein is what leads to disease, Bedwell said. An estimated one-third of gene defects responsible for human disease are thought to come from ‘nonsense mutations.’ In the case of CF, the absence of a certain protein leads to an imbalance of salt and water in the linings of the lungs and other membranes.

The UAB study showed that PTC124 allowed the protein to be made in mouse cells where it was previously absent, and it was delivered in a specific location that helped restore salt and water balance in membranes.

“The preclinical and clinical data on PTC124 support our hope that this drug will be an important disease-modifying therapy for cystic fibrosis,” said Robert J. Beall, Ph.D., president and chief executive officer of the Cystic Fibrosis Foundation in Bethesda, Md. “We look forward to the next stage of clinical development to demonstrate the benefits of this promising therapy.”

Also in the UAB study, PTC124 was shown to be highly selective for fixing only disease-causing mutations, while it spared normal genes, Bedwell said.

The compound has been granted orphan-drug status by the U.S. Food and Drug Administration for the treatment of Duchenne muscular dystrophy and CF, according to the biopharmaceutical company PTC Therapeutics, Inc. of South Plainfield, N.J. It works in an oral form.

Source: University of Alabama at Birmingham

Explore further: Drug research and development more efficient than expected

add to favorites email to friend print save as pdf

Related Stories

Japan clocks keep time for 16 billion years

13 minutes ago

Japanese researchers have built a pair of clocks which they say are so accurate they will lose a second only every 16 billion years—longer than the Earth has been around.

Quantum many-body systems on the way back to equilibrium

17 minutes ago

Considering that one cubic centimetre of matter already contains about 1019 to 1023 particles, it is hard to imagine that physicists nowadays can prepare ensembles comprising only some hundred, or even just ...

Better monitoring for energy efficiency in buildings

19 minutes ago

The past five years have seen energy efficiency in buildings moving from a welcomed addition to a sector priority. Unfortunately, well-defined targets do not always translate in effective measures: gaps between ...

Engineering a robot that assists in direct nursing care

20 minutes ago

Scientists from RIKEN and Sumitomo Riko Company Limited have developed a new experimental nursing care robot, ROBEAR, which is capable of performing tasks such as lifting a patient from a bed into a wheelchair ...

Recommended for you

Drug research and development more efficient than expected

Feb 27, 2015

Drug R&D costs have increased substantially in recent decades, while the number of new drugs has remained fairly constant, leading to concerns about the sustainability of drug R&D and question about the factors that could ...

Use new meningitis vaccines only for outbreaks

Feb 26, 2015

(AP)—A U.S. panel on Thursday recommended that two new meningitis vaccines only be used for rare outbreaks, resisting tearful pleas to give it routinely to teens and college students.

New antibiotic avycaz approved

Feb 26, 2015

(HealthDay)—The combination antibiotic Avycaz (ceftazidime-avibactam) has been approved by the U.S. Food and Drug Administration to treat adults with complicated infections of the intra-abdominal area or urinary tract, ...

Tagging drugs to fight counterfeit medicines

Feb 25, 2015

The U.S. and other countries are enacting rules to clamp down on the sales of fake pharmaceuticals, which pose a public health threat. But figuring out a system to track and authenticate legitimate drugs still faces significant ...

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.