A Phase 3 Efficacy and Safety Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Cystic Fibrosis

This purpose of this research study is to test a study drug called PTC124. Researchers hope to learn more about whether PTC124 can improve lung function, reduce the symptoms associated with CF, decrease the number of hospitalizations and the use of antibiotics for CF-related lung infections, reduce cough, improve overall patient quality of life, and to determine if it is safe for children and adults to take as a long-term treatment.The overall recruitment goal for this study is 208 subjects in about 38 sites, internationally. Our site will recruit 5 children and/or adults with cystic fibrosis (CF) who have a nonsense mutation and who meet eligibility criteria.

People 6 years of age and older with cystic fibrosis, who have a nonsense mutation (a genotype with an ‘X’ in its name such as G542X, W1282X, or R553X) may qualify to participate

The study drug will be taken 3 times a day (morning, noon and nighttime) within 30 minutes of a meal. It is a powder that can be mixed in 1-2 fluid ounces of water or milk and will be taken every day for 48 weeks. PTC124 will be given to half of the subjects and the other half will receive the "fake" drug or placebo. A placebo has no effect but looks just like the study drug.

Should you agree to participate in this research, you will be in the study for about 1 year, and will be followed for safety 5 years after your last study doses. After the first year, the study team will call you to follow up on your health every 6 months in YR 1 and 2, then once a year in YR 3, 4 and 5. At the study visits, you will have a physical exam including vital signs, blood and urine tests, sweat chloride tests, pulmonary function testing, nasal potential difference (NPD) tests, and EKG testing of your heart. You will answer questionnaires about your health, be asked to complete an electronic diary daily, wear a LifeShirt vest to capture cough for 24 hours four times over the first year, and have a renal ultrasound and CT scan of your lungs twice.

You will be compensated for your time, travel and parking.

STATUS: Currently Enrolling

P.I.: Pamela Zeitlin, M.D, Ph.D.
Contact: Karen Callahan or Carolyn Chapman or Erin Felling at 410-955-1167
Protocol #: NA_00028826
Send Me Info

Prediction by Ultrasound of the Risk of Hepatic Cirrhosis in Cystic Fibrosis (PUSH)

The purpose of this research study is to learn more about liver disease in people with cystic fibrosis (CF) using a test called a liver ultrasound.  CF is an inherited disease that involves the lungs and the digestive system, including the liver.  It is hard to predict which people with CF are at greater risk for liver disease.  It is also hard to identify liver disease in the early stages in people with CF.  The liver ultrasound test may help to diagnose and treat liver disease in people with CF.  In this 5-year study, participants will have labwork and complete questionnaires once a year and have a liver ultrasound test every two years. 

STATUS: Currently Enrolling

PI: Shruti M. Paranjape, M.D.
Contact: Karen Callahan or Carolyn Chapman or Erin Felling at 410-955-1167
Protocol #: NA_00026772
Send Me Info

A Pilot Study of the Safety and Efficacy of Digitoxin to Suppress Inflammation in Cystic Fibrosis

This research study is being done to see if Digitoxin can decrease inflammation in the airways of CF patients.   Digitoxin is a drug that is used in Europe for treatment of heart failure and is known to decrease inflammation in airway cells.  People with CF over 18 years of age will make 6 study visits to the General Clinic Research Center at Johns Hopkins Hopkins over about 56 days.  PFTs, EKGs, blood tests, nasal brushings and urine tests will be done at the visits.  We will also use a method to get you to produce sputum from deep within your lungs called induced sputum. You will be compensated for your time and travel.

STATUS: Currently Enrolling

P.I.: Pamela L. Zeitlin, M.D., Ph.D.
Contact: Karen Callahan, RN, CCRPat 443-287-8983 
Send Me Info

Cystic Fibrosis Twin and Sibling Genetic Modifier Study – A Multicenter Study
The reason why we are doing this study is to understand more about CF and how we could better treat people that have it. This research is being done to find the genes and other factors that are responsible for variation among persons with CF. We are interested in twins and siblings because they share similar genes and a similar environment. We want to know why twins and siblings with the same CFTR mutation have very different diseases. We think that other genes, besides CFTR, are playing a role in CF. We also think that the environment influences disease course. For this reason we are collecting blood samples (2 tablespoons) to look at a person’s DNA. We are also collecting personal (work/home environment) and clinic information about the disease course. We plan on comparing clinical symptoms with DNA results to see if we can identify genes that affect the course of illness. All information collected is coded and de-identified to keep it confidential. When possible, the blood sample will be obtained at the same time blood is needed for reasons that are medically indicated. There will be no cost to the patient for any tests done as part of this study. Participating in this study is strictly on a volunteer basis. Patients will not be compensated for their participation. We appreciate your consideration to be part of this study.

STATUS: Currently Enrolling

P.I.: Garry R. Cutting, M.D.
Contact: If you and your sibling would like to participate please feel free to contact us at 1-866-245-8065 or visit the website.