Molecular Phenotypes for Cystic Fibrosis Lung Disease
Summary
The purpose of this study is to develop an integrated view of molecular mechanisms underlying CF lung disease severity.
Description
BACKGROUND:
Cystic fibrosis (CF) is a recessive genetic disorder caused by mutations in CF transmembrane conductance regulator (CFTR) gene. CF has multi-organ involvement, but respiratory disease is the major cause of morbidity and mortality. The median age of survival in CF is only 37 years, but there is a broad range of disease severity in the lung, even among patients with identical CFTR genotypes, including ΔF508 homozygotes.
DESIGN NARRATIVE:
This project holds great promise for defining a robust molecular phenotype for CF lung disease, which relates to prognosis, and new targets for therapy. By using a large and well-defined population of ΔF508 homozygotes who also have whole genome SNP data, and by studying gene expression across the whole transcriptome in a large number of samples of two relevant tissues (respiratory epithelium and transformed lymphocytes), we will be uniquely positioned to develop an integrated view of molecular mechanisms underlying CF lung disease severity.
Study Design
Observational Model: Cohort, Time Perspective: Prospective
Conditions
Cystic Fibrosis
Location
Johns Hopkins University
Baltimore
Maryland
United States
21205
Status
Recruiting
Source
National Heart, Lung, and Blood Institute (NHLBI)
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT01116414
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Cystic Fibrosis
An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
Cystic Fibrosis Transmembrane Conductance Regulator
A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8)
Mice, Inbred Cftr
A strain of mice widely studied as a model for cystic fibrosis. These mice are generated from embryonic stem cells in which the CFTR (cystic fibrosis transmembrane conductance regulator) gene is inactivated by gene targeting. As a result, all mice have one copy of this altered gene in all their tissues. Mice homozygous for the disrupted gene exhibit many features common to young cystic fibrosis patients, including failure to thrive, meconium ileus, and alteration of mucous and serous glands.
Stenotrophomonas Maltophilia
A species of STENOTROPHOMONAS, formerly called Xanthomonas maltophilia, which reduces nitrate. It is a cause of hospital-acquired ocular and lung infections, especially in those patients with cystic fibrosis and those who are immunosuppressed.
Drainage, Postural
A rehabilitation therapy for removal of copious mucus secretion from the lung of patients with diseases such as CHRONIC BRONCHITIS; BRONCHIECTASIS; PULMONARY ABSCESS; or CYSTIC FIBROSIS. The patient's head is placed in a downward incline (so the TRACHEA is inferior to the affected area) for 15- to 20-minute sessions.
Clinical Trials
Miglustat / OGT 918 in the Treatment of Cystic Fibrosis
Cystic fibrosis is a genetic disease caused by mutation of the cystic fibrosis transmembrane conductance regulator (CFTR). The purpose of the study is to investigate the effects of miglust...
Exercise-Induced Bronchospasm in Cystic Fibrosis
Exercise is an important clinical feature in cystic fibrosis. Better exercise capacity has been associated with better patient outcomes and quality of life. Exercise-induced bronchospasm...
Phase I Study of Liposome-Mediated Gene Transfer in Patients With Cystic Fibrosis
OBJECTIVES: Evaluate the efficacy and safety of lipid-mediated transfer of the cystic fibrosis transmembrane conductance regulator gene to nasal epithelium in patients with cystic f...
Study of Uridine Triphosphate (UTP) as an Aerosol Spray for Cystic Fibrosis
OBJECTIVES: I. Determine the stability of uridine triphosphate (UTP) and examine the metabolism of exogenous nucleotides on airway epithelial surfaces in patients with cystic fibrosis....
For some years, the investigators observe an increase of the arisen of diabetes in cystic fibrosis patients However, this diabetes may be reversible. The investigators speak about " Cystic...
PubMed Articles
New therapies in cystic fibrosis.
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that lead to abnormalities in transepithelial ion transport in the airways of affected pat...
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation.
Increasing the activity of defective cystic fibrosis transmembrane conductance regulator (CFTR) protein is a potential treatment for cystic fibrosis.
Treatment of cystic fibrosis associated cutaneous vasculitis with chloroquine.
Vasculitis is a well recognised complication of Cystic Fibrosis. Corticosteroids are the mainstay of treatment but some cases can be resistant and may require additional disease modifying agents. We d...
First report of cystic fibrosis mutations in Libyan cystic fibrosis patients.
Background: There are few data on the molecular basis of Cystic Fibrosis (CF) in North Africa, probably due to under-diagnosis. Aim: This is the first study of cystic fibrosis transmembrane conductanc...
