Cystic Fibrosis Clinical Trials

To determine the treatment effect of triple-combination therapy in 6-8 year olds after presumed FDA approval, using rapid structural and functional pulmonary and abdominal MRI (UTE and 129Xe). Read Less

In this project, the investigators seek to understand the role of endothelial cells in Cystic Fibrosis (CF) lung disease. This objective will be achieved by conducting a cross sectional clinical study to define the morphology of the pulmonary circulation across a range of lung function coupled with a mechanistic study of the effect of dysfunctional cystic fibrosis transmembrane conductance regulator (CFTR) in endothelial cells on vasculogenesis, epithelial morphogenesis and epithelial CFTR function. Toward that end, the investigators propose the following hypotheses; (a). Loss of pulmonary small blood vessels begins early in the CF lung and worsens with disease progression, (b).VEGFR2-CFTR interactions happen at the plasma membrane of endothelial cells and is likely to be involved in transendothelial ion transport (c) impaired VEGFR2-CFTR interactions on the endothelial cells will have a profound effect on vasculogenesis, epithelial morphogenesis and ion transport. The first hypotheses will be tested through this clinical study. The following 2 hypotheses will be tested through laboratory studies that do not involve human subjects. Read Less

FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases. Patients participate in the study by electronic consent (eConsent) and sign a medical records release to permit data collection. Medical records are accessed from institutions directly via eFax or paper fax, online from patient electronic medical record (EMR) portals, direct from DNA/RNA sequencing and molecular profiling vendors, and via electronic health information exchanges. Patients and their treating physicians may also optionally provide medical records. Medical records are received in or converted to electronic/digitized formats (CCDA, FHIR, PDF), sorted by medical record type (clinic visit, in-patient hospital, out-patient clinic, infusion and out-patient pharmacies, etc.) and made machine-readable to support data annotation, full text searches, and natural language processing (NLP) algorithms to further facilitate feature identification. Read Less

The goal of this study is to learn about the role of estrogen and other hormones in bone development in adolescent and young adult women with cystic fibrosis (CF). The study has two main components, an observational study and a feasibility sub-study. The main questions it aims to answer are: * How do different forms of hormonal contraception (e.g. birth control pill or other progesterone only methods) impact bone health? * Is a study of transdermal estradiol (estrogen skin patches) feasible in this group? * How does transdermal estradiol impact bone health and quality of life? Participants in the observational study will have three study visits (baseline, 6 months, and 12 months). At all visits, participants will have blood drawn and will complete questionnaires. At the baseline and 12 month visits, participants will additionally have x-rays and DXAs (bone density assessment). Between visits, participants will complete brief questionnaires. Researchers will compare various measurements over time to assess the impact of different forms of hormonal contraception. Participants in the feasibility sub-study will apply transdermal estradiol patches once weekly for 12 months, fill out brief quality-of-life surveys in between study visits, and complete blood draws and questionnaires at four study visits (baseline, 3 months, 6 months, and 12 months). The participants will also have x-rays and DXAs performed at the baseline and 12 month visits. Researchers will examine changes in various measurements to determine the impact of transdermal estradiol. Read Less

The purpose of this study is to look at lung ventilation in people with cystic fibrosis over time (1 year) using magnetic resonance imaging (MRI) with an inhaled contrast gas, and compare these measures to lung function assessed by spirometry and multiple breath nitrogen washout. This study also looks at how these measures change in response to a pulmonary exacerbation and treatment (if applicable). Over the span of a year, participants would be asked to complete 3-5 visits to the University of North Carolina at Chapel Hill (UNC). with each lasting up to 4 hours. If participants do not have a pulmonary exacerbation during the year they would be asked to complete 3 visits (one at enrollment, a second roughly 2 weeks later, and the third approximately a year later). If participants do experience a CF pulmonary exacerbation they would complete 5 visits (Visit 1, Visit 2, two exacerbation visits with one before treatment and the other after, and Visit 3 at one year after Visit 1). Only one exacerbation per participant will be tracked. Participants are eligible for this study if they are 18 years old or older, have Cystic Fibrosis (CF) with mild lung disease (FEV1 \>/= 60%), and can undergo an MRI. There are no known benefits for participating in this study. Read Less

The study will evaluate the feasibility of using smartphone speakers and microphones to evaluate the caliber of the airways, detect airway obstruction, aid in airway disease diagnosis, and identify disease exacerbations. Read Less

The purpose of this study is to explore the use of off-label CFTR modulators that may affect CFTR function in patients with CFTR mutations that are not currently approved for these drugs. Read Less

The purpose of this study is to look at pulmonary exacerbations in people with cystic fibrosis (CF) that need to be treated with antibiotics given through a tube inserted into a vein (intravenous or IV). A pulmonary exacerbation is a worsening of respiratory symptoms in people with CF that needs medical intervention. Both doctors and CF patients are trying to understand the best way to treat pulmonary exacerbations. This study is trying to answer the following questions about treating a pulmonary exacerbation: * Do participants have the same improvement in lung function and symptoms if they are treated with one type of antibiotic (called beta-lactams or β-lactams) versus taking two different types of antibiotics (tobramycin and β-lactams)? * Is taking one type of antibiotic just as good as taking two types? Read Less

This is a two-part, multi-center, prospective longitudinal, exploratory study of highly effective cystic fibrosis transmembrane conductance regulator (CFTR) modulators and their impact on children with cystic fibrosis (CF). Read Less

Cystic fibrosis related diabetes (CFRD) is associated with worse CF-relevant outcomes. The mechanisms underlying CFRD development are not fully understood, but recent evidence suggests Type 2 Diabetes Mellitus (T2DM) mechanisms may be involved and may involve incretins (gut secreted hormones that augment insulin secretion in response to a nutrient load). This study will examine the prevalence of Genome wide association study (GWAS)-implicated T2DM alleles (including TCF7L2) across the spectrum of glucose abnormalities in CF and will use this information to compare incretin and insulin secretion in non-diabetic children and adults with high risk and low risk alleles. Read Less

Cystic fibrosis (CF) is a multisystem autosomal recessive inherited disease affecting approximately 75,000 individuals in USA. The sweat chloride (Cl) test remains the gold standard for diagnosis of CF but still has a number of limitations. The objectives of this study are: 1)To evaluate a skin-interfaced colorimetric bifluidic sweat device with two synchronous channels as a potential low-cost but potentially accurate test to diagnoses cystic fibrosis (CF) and 2) To evaluate measurements of sweat chloride (Cl) using this same system in comparison to the standard clinical laboratory procedures routinely performed in the Clinical Laboratory at Penn State Health Milton S. Hershey Medical Center (PSH-HMC), Hershey, PA for assessment of the diagnosis of CF. This is a single institution study performed solely at PSH-HMC. Study participants will include 1) adults 18 years of age or older capable of providing signed and dated informed consent, 2) subjects with an established known diagnosis of cystic fibrosis (CF) or healthy volunteers, and 3) able to understand and speak English language. Exclusion criteria include: 1) any medical condition or disorder known to potentially interfere with accurate measurements of sweat chloride and 2) inability to understand and speak the English language. Cystic Fibrosis (CF) subjects will be identified from the population of eligible patients receiving medical care at Penn State Health- Milton S. Hershey Medical Center (PSH-HMC). Healthy donor volunteers will be recruited from various members of the PSH-HMC CF clinical care team, members of the Division of Allergy, Pulmonary and Critical Care (both faculty and trainees) at PSH-HMC, and PSU-University Park research team. The total projected number of combined enrolled subjects is 30. This is a single day single time study that will require approximately 60 minutes of subject participation. Potential risks include a) side effects from pilocarpine iontophoresis sweat test collection (pain, skin discomfort, blisters, rarely burns and b) loss of confidentiality. There will be no cost to subjects for study participation. There will be no reimbursement financially for study participation. There is no benefit to subjects for study participation. There is the potential benefit to medical science via identification of improved method to accurately measure sweat chloride for diagnosis of CF. Read Less

This study will be a prospective, observational study of patients who undergo endoscopic sinus surgery for cystic fibrosis-related chronic rhinosinusitis (CRS). Individuals who do not undergo surgery but are treated medically for CRS will also be enrolled to serve as a control group. Outcomes analyzed will include pulmonary, quality of life, and others. Read Less