New Drug Shows Promise in Cystic Fibrosis

[beam me up scottie]

New Drug Shows Promise in Cystic Fibrosis

LONDON (Reuters) - A new kind of cystic fibrosis drug, designed to bypass a genetic defect to treat the disease, has produced promising results in mid-stage clinical trials, Israeli researchers said on Thursday.

The medicine, known as PTC124, is being developed by PTC Therapeutics, a privately owned biotechnology company in South Plainfield, New Jersey.

Cystic fibrosis -- a disease in which the body produces a thicker-than-normal mucus that clogs the lungs and other organs -- is caused by mutations in the cystic fibrosis transmembrane-conductance regulator (CFTR) gene.

PTC124 can bypass the defect in patients' protein-making machinery and improve the functioning of cell membranes, Eitan Kerem and colleagues of Hadassah Hebrew University Hospital, Jerusalem, reported in an online edition of the Lancet journal.

They studied the drug in a Phase II trial involving 23 patients with cystic fibrosis and found convincing changes in cell membrane function, coupled with modest but statistically significant improvements in lung function.

http://www.reuters.com/article/healthNews/idUSLK8377820080821

[beam me up scottie]

1. kick

[LeftishBrit]

2. It would be great to have better treatments for this condition

It is now much better than 30 years ago. A person with CF now has a good chance of living into adulthood, unlike then. But little chance of living to be old.

[LeftishBrit]

3. kick

[beam me up scottie]

4. More info from Science Codex:

PTC124 shows activity in cystic fibrosis; Phase 2 proof-of-concept data published in Lancet

STUDY RESULTS: PTC124 RESTORED FUNCTIONAL PRODUCTION OF CFTR PROTEIN IN PATIENTS

This Phase 2 Israeli study enrolled 23 adult patients (median age 25 years) with nonsense-mutation CF. More than 90 percent of patients had severe CF with compromised lung function, pulmonary infection with Pseudomonas or other pathogenic bacteria, and pancreatic insufficiency. Patients were assessed in two 14-day treatment courses of oral PTC124 therapy, the first given at a lower dose and the second given at a higher dose. Results showed that at both dose levels, treatment with PTC124 was associated with statistically significant improvements (p<0.05) in CFTR-mediated chloride transport with over half of the patients entering the normal range during at least one treatment course. PTC124 induced chloride transport responses and normalization of CFTR activity across the variety of patient genotypes tested. Improvements in lung function values and body weight were also observed. PTC124 was generally well tolerated and all patients had >90 percent treatment compliance.



"This study demonstrates the potential for personalized medicine, combining selection of patients with a specific type of genetic mutation and a drug treatment that has been specifically designed to overcome that mutation," said Eitan Kerem, MD, head of pediatrics and the CF center at the Hadassah University Hospital in Mount Scopus, Jerusalem and the lead author of the study. "The publication of these ground-breaking results in the Lancet offers new hope to those patients with CF due to a nonsense mutation in the CFTR gene and establishes a path forward for evaluating the efficacy and long-term safety of PTC124."

http://www.sciencecodex.com/ptc124_shows_activity_in_cystic_fibrosis_phase_2_proofofconcept_data_published_in_lancet