Clinical phenotype of cystic fibrosis patients with the G551D mutation.

I think that other things influence phenotype aside from just CF genes (modifier genes, etc), but this is still interesting:

QJM. 2009 Sep 4. [Epub ahead of print]

Clinical phenotype of cystic fibrosis patients with the G551D mutation.

Comer DM, Ennis M, McDowell C, Beattie D, Rendall J, Hall V, Elborn JS.

From the Regional Adult Cystic Fibrosis Centre, Belfast City Hospital, Respiratory Medicine Research Group, Centre for Infection and Immunity, The Queen's University of Belfast, Biostatistician, The Northern Ireland Clinical Research Support Centre, The Royal Group of Hospitals and Regional Genetics Laboratories, Belfast City Hospital, Belfast, N Ireland, UK.

BACKGROUND: Data on whether the phenotype of cystic fibrosis (CF) patients with compound heterozygocity for G551D (Gly551Asp) differs from patients with F508del (Phe508del) homozygous mutations is divergent. AIM: We hypothesized that CF patients with the G551D mutation would have less severe disease than F508del homozygotes. DESIGN: We compared the clinical phenotype of adult patients with a G551D mutation with adult patients homozygous for F508del and those with the missense mutation R117H (Arg117His). Compound heterozygotes for the G551D and R117H were analysed separately. METHODS: Data were collected for 101 adult CF patients. Group 1-4 represents in order F508del homozygote patients (n = 61), those with the G551D mutation and a more severe mutation (n = 13), those with R117H mutation and a more severe mutation (n = 23) and also those compound for both the R117H and G551D mutations (n = 4). RESULTS: Our findings have shown that adult patients with the G551D mutation and a second severe mutation have a milder clinical phenotype than F508del homozygous adult patients. Higher FEV(1) and body mass index and less impaired glucose tolerance was demonstrated in the patients with G551D and R117H compared to F508del homozygotes. There was a reduced yearly rate of decline of FEV(1) (P <>

Vertex Pharmaceuticals Inc. has launched Phase 3 clinical trials for a potential treatment for cystic fibrosis.

the faster we enroll people in this trial, the faster this medication will get to the market if it's proven effective.

it's time to enroll, my fellow CFer's. let's make this happen!!!!!

Vertex Pharmaceuticals Inc. has launched Phase 3 clinical trials for a potential treatment for cystic fibrosis.

The primary trial for the drug candidate, called VX-770, will be a 48-week trial that is open to patients aged 12 years and older, and two additional trials will be open to patients between the ages of 6 and 11 years.

The drug candidate targets a defective protein that is thought to cause the disease, and is designed to improve lung function. The primary trial is seeking to enroll at least 80 patients, and registration is expected to be complete in the first quarter of 2010.

VX-770 was discovered as part of a collaboration with Cystic Fibrosis Foundation Therapeutics Inc., the nonprofit drug discovery and development affiliate of the Cystic Fibrosis Foundation.

The Foundation has invested more than $320 million in drug research in the biotech industry since 1998.

Vertex retains worldwide rights to develop and commercialize the drug, if it gains regulatory approval.

Cystic fibrosis is a life-threatening genetic disease affecting approximately 30,000 people in the United States and 70,000 people worldwide. The median-predicted age of survival for a person with Cystic Fibrosis is about 37 years.

Vertex (Nasdaq: VRTX) was trading at $29.69 a share in mid-morning trading Wednesday, up from the previous day’s close of $29.62 a share.

Participating sites in this Phase III trial for 12 years old and up are:

Locations

United States, Alabama
	Not yet recruiting
Birmingham, Alabama, United States
United States, California
	Not yet recruiting
Palo Alto, California, United States
	Not yet recruiting
San Diego, California, United States
	Not yet recruiting
Oakland, California, United States
United States, Colorado
	Not yet recruiting
Denver, Colorado, United States
United States, Idaho
	Not yet recruiting
Boise, Idaho, United States
United States, Illinois
	Not yet recruiting
Chicago, Illinois, United States
United States, Indiana
	Not yet recruiting
Indianapolis, Indiana, United States
	Not yet recruiting
Bloomington, Indiana, United States
United States, Iowa
	Not yet recruiting
Iowa City, Iowa, United States
United States, Kentucky
	Not yet recruiting
Lexington, Kentucky, United States
United States, Maryland
	Not yet recruiting
Baltimore, Maryland, United States
United States, Massachusetts
	Not yet recruiting
Boston, Massachusetts, United States
United States, Michigan
	Not yet recruiting
Grand Rapids, Michigan, United States
	Not yet recruiting
Ann Arbor, Michigan, United States
	Not yet recruiting
Detroit, Michigan, United States
United States, Minnesota
	Not yet recruiting
Minneapolis, Minnesota, United States
United States, Missouri
	Not yet recruiting
St. Louis, Missouri, United States
United States, Nebraska
	Not yet recruiting
Lincoln, Nebraska, United States
United States, New Jersey
	Not yet recruiting
Long Branch, New Jersey, United States
United States, New York
	Not yet recruiting
Syracuse, New York, United States
	Recruiting
Buffalo, New York, United States
	Not yet recruiting
New Hyde Park, New York, United States
United States, North Carolina
	Not yet recruiting
Chapel Hill, North Carolina, United States
United States, Ohio
	Not yet recruiting
Cleveland, Ohio, United States
	Not yet recruiting
Columbus, Ohio, United States
	Not yet recruiting
Toledo, Ohio, United States
	Not yet recruiting
Cincinnati, Ohio, United States
United States, Oregon
	Not yet recruiting
Portland, Oregon, United States
United States, Pennsylvania
	Not yet recruiting
Hershey, Pennsylvania, United States
	Not yet recruiting
Pittsburgh, Pennsylvania, United States
	Not yet recruiting
Philadelphia, Pennsylvania, United States
United States, Tennessee
	Not yet recruiting
Nashville, Tennessee, United States
	Not yet recruiting
Knoxville, Tennessee, United States
United States, Texas
	Not yet recruiting
Houston, Texas, United States
United States, Utah
	Not yet recruiting
Salt Lake City, Utah, United States
United States, Virginia
	Not yet recruiting
Charlottesville, Virginia, United States
United States, Washington
	Not yet recruiting
Seattle, Washington, United States
United States, West Virginia
	Not yet recruiting
Morgantown, West Virginia, United States
United States, Wisconsin
	Not yet recruiting
Milwaukee, Wisconsin, United States
Australia, New South Wales
	Not yet recruiting
Westmead, New South Wales, Australia
Australia, Queensland
	Not yet recruiting
Herston, Queensland, Australia
	Not yet recruiting
South Brisbane, Queensland, Australia
	Not yet recruiting
Brisbane, Queensland, Australia
Australia, Victoria
	Not yet recruiting
Parkville, Victoria, Australia
Canada, Alberta
	Not yet recruiting
Calgary, Alberta, Canada
Canada, British Columbia
	Not yet recruiting
Vancouver, British Columbia, Canada
Canada, Nova Scotia
	Not yet recruiting
Halifax, Nova Scotia, Canada
Canada, Ontario
	Not yet recruiting
Toronto, Ontario, Canada
Canada, Quebec
	Not yet recruiting
Montreal, Quebec, Canada
Czech Republic
	Not yet recruiting
Prague, Czech Republic
France
	Not yet recruiting
Paris, France
	Not yet recruiting
Brittany, France
Germany
	Not yet recruiting
Munich, Germany
	Not yet recruiting
Hannover, Germany
	Not yet recruiting
Wurzburg, Germany
	Not yet recruiting
Jena, Germany
	Not yet recruiting
Erlangen, Germany
Ireland
	Not yet recruiting
Dublin, Ireland
	Not yet recruiting
Cork, Ireland
United Kingdom
	Not yet recruiting
London, United Kingdom
	Not yet recruiting
Cambridge, United Kingdom
	Not yet recruiting
Birmingham, United Kingdom
United Kingdom, Northern Ireland
	Not yet recruiting
Belfast, Northern Ireland, United Kingdom Participating sites in this Phase III trial for 6- 11 years old are United States, Alabama Birmingham, Alabama, United States United States, Illinois Chicago, Illinois, United States United States, Indiana Indianapolis, Indiana, United States United States, Kentucky Lexington, Kentucky, United States United States, Massachusetts Boston, Massachusetts, United States United States, Michigan Ann Arbor, Michigan, United States Detroit, Michigan, United States United States, Minnesota Minneapolis, Minnesota, United States United States, Nebraska Lincoln, Nebraska, United States United States, Ohio Columbus, Ohio, United States United States, Pennsylvania Hershey, Pennsylvania, United States Pittsburgh, Pennsylvania, United States United States, Tennessee Knoxville, Tennessee, United States United States, Utah Salt Lake City, Utah, United States United States, Virginia Charlottesville, Virginia, United States Canada, British Columbia Vancouver, British Columbia, Canada Canada, Ontario Toronto, Ontario, Canada Canada, Quebec Montreal, Quebec, Canada France Paris, France Germany Jena, Germany Ireland Dublin, Ireland Cork, Ireland United Kingdom London, United Kingdom