November 2012

Medical News Briefs: Targeting the Basic Defect

Connections - November 2012 - Medical News Briefs

The CF Foundation collaborates with researchers around the world and leading pharmaceutical companies to discover and develop potential new therapies that address the underlying cause of cystic fibrosis. Here’s an update on work under way to expand our knowledge of CF and find new ways to treat it.

Cystic Fibrosis Foundation Therapeutics Launches Drug Discovery Laboratory

Cystic Fibrosis Foundation Therapeutics Inc. (CFFT), the Foundation’s nonprofit drug discovery and development affiliate, recently opened its own research laboratory in Bedford, Mass., to help discover potential new therapies that target the underlying cause of CF. 

Still in its early stages, the CFFT Lab will work closely with university research laboratories to develop new screening tools to find chemical compounds that could advance in development and potentially into CF clinical trials.

CFFT Lab scientists also will collaborate with biotech companies to test new approaches to tackling the genetic defect that causes CF.

The main focus of the CFFT Lab is to support and speed up early drug discovery programs to screen for small molecule compounds that could potentially be used to treat people with the most common mutation of CF, Delta F508.

“The CFFT Lab is a very important step forward in our efforts to accelerate the discovery and development of more potential therapies that target the root cause of CF,” said Robert J. Beall, Ph.D., president and CEO of the CF Foundation. “The CFFT Lab will serve as a resource for the CF research community and provide crucial expertise to companies that have unique technologies to contribute to CF drug discovery but may not have experience working on CF.”

New Website Offers Information on CF Gene Mutations

A major international research collaboration, supported by the CF Foundation, has led to a new online resource that provides information on specific cystic fibrosis gene mutations to people with CF and their families, health professionals, scientists and the general public.

The aim of the website – – is to help determine the relationships between specific mutations and symptoms of CF. This knowledge could help advance the development of potential new CF treatments and improvements in CF care.

The CFTR2 website uses a database with information from nearly 40,000 people with CF collected by CF patient registries and care centers around the world. All of the information is confidential, so no patient names are included and the data cannot be traced back to any individual.

More than 1,800 mutations of CF have been identified since the gene was discovered. The CFTR2 website includes the 160 most common mutations. For each of these, visitors can search for information such as lung function and sweat chloride levels from people in the database who have that mutation.

CFTR2 is not a tool to diagnose CF or predict the health of a person who has a specific mutation. However, people with CF and their families can visit the website to learn more about how others with the same mutations have been affected by the disease.

The database is also a valuable resource — the first of its kind for a genetic disease — for CF researchers and doctors. In the future, as new potential therapies that target specific CF mutations become available, CFTR2 could help doctors pinpoint the best treatment for a person living with CF.

Kalydeco Approved in European Union; More Studies Planned in U.S.

In July, the European Commission approved the use of the CF therapy Kalydeco™ for people ages 6 years and older with the G551D mutation of CF in the European Union.

The commission’s decision came only two months after the European Medicines Agency, which oversees drug approvals in the European Union, recommended Kalydeco’s approval.

Earlier this year, the U.S. Food and Drug Administration approved Kalydeco for people with the G551D mutation of CF ages 6 and older in the United States. Kalydeco is the first drug to treat the underlying cause of CF.

The maker of Kalydeco, Vertex Pharmaceuticals Inc., is now studying the drug when taken alone in people with other CF mutations that were not evaluated in earlier trials.

A Phase 3 trial is testing Kalydeco in people with other “gating mutations” of CF besides G551D. In gating mutations like G551D, the defective protein in CF moves to its proper place at the cell surface but does not function correctly. The CFTR protein acts instead like a locked gate, interfering with the normal flow of salt and fluid in and out of the cell. Kalydeco aims to unlock that gate and help restore the function of the faulty protein.

Kalydeco is also being studied in a Phase 3 trial in people with R117H mutation of CF. R117H, known as a “conductance mutation,” causes abnormal function of the CFTR protein at the surface of the cell.

Vertex plans to begin a Phase 3 trial in early 2013 of Kalydeco in combination with the potential therapy VX-809 in people with two copies of the Delta F508 mutation.

Results released in July from a Phase 2 study of Kalydeco and VX-809 showed a significant improvement in lung function in people with two copies of Delta F508 who received the combination treatment.

In addition, Kalydeco is being tested in combination with another potential CF therapy, VX-661, in a Phase 2 trial in people with two copies of the Delta F508 mutation.

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