Advertisement

Topics

Molecular Phenotypes for Cystic Fibrosis Lung Disease

2014-08-27 03:13:59 | BioPortfolio

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)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:13:59-0400

Clinical Trials [935 Associated Clinical Trials listed on BioPortfolio]

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. ...

Determination of the Predictive Factors in the Reversibility or the Aggravation in the Disorders of the Glucose Metabolism in Cystic Fibrosis Patients

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 [1740 Associated PubMed Articles listed on BioPortfolio]

Audiometric assessment of pediatric patients with cystic fibrosis.

The purpose of this study was to evaluate hearing impairment in pediatric patients with cystic fibrosis (CF).

The association between Staphylococcus aureus and subsequent bronchiectasis in children with cystic fibrosis.

Staphylococcus aureus (S. aureus) may be related to more rapid progression of cystic fibrosis (CF) lung disease.

No easy road to better cystic fibrosis care in Eastern Europe?

Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related Diabetes.

Cystic fibrosis-related diabetes (CFRD) is the most frequent extrapulmonary complication of cystic fibrosis (CF).

SPX-101 is stable in and retains function after exposure to cystic fibrosis sputum.

In healthy lungs, epithelial sodium channel (ENaC) is regulated by short, palate, lung, and nasal clone 1 (SPLUNC1). In cystic fibrosis (CF), ENaC is hyperactivated in part due to a loss of SPLUNC1 fu...

Medical and Biotech [MESH] Definitions

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.

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)

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.

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.

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.

More From BioPortfolio on "Molecular Phenotypes for Cystic Fibrosis Lung Disease"

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topics

Pulmonary
Pulmonary relating to or associated with the lungs eg Asthma, chronic bronchitis, emphysema, COPD, Cystic Fibrosis, Influenza,  Lung Cancer, Pneumonia, Pulmonary Arterial Hypertension, Sleep Disorders etc Follow and track Lung Cancer News ...

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...


Searches Linking to this Trial