G551D Observational Study- Expanded to Additional Genotypes and Extended for Long Therm Follow up (GOAL-e2) (GOAL- e2)
Verified January 2014 by University of Alabama at Birmingham
Information provided by (Responsible Party):
Dr. Steven M Rowe, University of Alabama at Birmingham
First received: January 25, 2012
Last updated: January 23, 2014
Last verified: January 2014
The goal of this research study is to collect blood and urine samples from people who have either the R117H type of CF or the non-G551D gating type of CF to be kept for future research.We will also use some of the collected blood to measure the number of neutrophils.
||Observational Model: Cohort
Time Perspective: Prospective
||G551D Observational Study (GOAL)-Expanded to Additional Genotypes and Extended for Long Therm Follow up (GOAL-e2)
Biospecimen Retention: Samples With DNA
Primary Outcome Measures:
- No Primary Outcomes are collected for this study [ Designated as safety issue: No ]
| Estimated Enrollment:
| Study Start Date:
| Estimated Study Completion Date:
| Estimated Primary Completion Date:
||January 2014 (Final data collection date for primary outcome measure)
- Blood Collection: Blood will be collected to be kept for research in the future and to measure the number of blood cells called neutrophils. A small needle will be used to collect blood from a vein in your arm. About 7-9 teaspoons of blood would be collected.
- Sweat Collection: Your sweat will be collected with a special sweat collection machine to test the amount of salt in your sweat.
- Spirometry: You will be asked to take a test that measures how well your lungs are working. You will be asked to take a deep breath and then blow into a mouthpiece as hard as possible and for as long as possible. This is the same test that is done when you come to clinic.
- Urine Collection: Urine will also be collected to be kept for research in the future. You will be asked to pee in a cup.
- Sputum Collection: If you are able to, you will be asked to cough up mucus into a cup, which will be collected to be kept for research in the future.
- Medical Information: We are asking you to share your medical information with study researchers. Your medical information will not contain any of your personal identification information, like your name and address
• Induced Sputum Collection: If you say "yes" to collecting a sputum sample, you will be asked to breathe in a salt water solution to help you cough out sputum. If you cannot breathe in the salt water solution to cough out sputum for the last study visit, you will be asked to cough mucus into
|Ages Eligible for Study:
||6 Years and older
|Genders Eligible for Study:
|Accepts Healthy Volunteers:
Patients with Cystic Fibrosis and the G551D Mutation ages 6 years old and older
Inclusion Criteria for Core Study:
- Male or female ≥ 6 years of age at Visit 1. :
Must have a clinical diagnosis of cystic fibrosis and the following CFTR mutations:
- For Cohort 1 (Closed to enrollment June 30, 2012) a) G551D on at least 1 allele b) Any known or unknown mutations allowed on second allele.
- For Cohort 2:
- R117H on at least 1 allele
- Any known or unknown mutation on the second allele except G551D c. For Cohort 3:
- A Non-G551D gating mutation on one allele: (G178R, S549N, S549R, G551S, G970R, G1244E, S1251N, S1255P, G1349D)
- Any known or unknown mutation on the second allele except G551D OR R117H
- Enrolled in the Cystic Fibrosis Foundation Patient Registry (with the exception of Canadian sites). (Patients may enroll in the Registry at Visit 1 if not previously enrolled.)
- Clinically stable with no significant changes in health status within the 14 days prior to Visit 1.
- Written informed consent (and assent when applicable) obtained from subject or subject's legal representative.
Exclusion Criteria for Core Study
- Participation in the VX-770-105, VX-770-106, VX-770-108, VX-770-110, VX-770-111, VX-770-112, or VX-770-113 study, VX-770 Extended Access Program or use of ivacaftor within 6 months prior to Visit 1.
- Any upper or lower respiratory symptoms requiring treatment with oral, inhaled or IV antibiotics within the 2 weeks prior to Visit 1.
- History of solid organ transplantation.
- Presence of a condition or abnormality that in the opinion of the investigator would compromise the safety of the patient or the quality of the data.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01521338
Dr. Steven M Rowe
||Steven M Rowe, MD
||University of Alabama at Birmingham
No publications provided
||Dr. Steven M Rowe, Principal Investigator, University of Alabama at Birmingham
History of Changes
|Other Study ID Numbers:
|Study First Received:
||January 25, 2012
||January 23, 2014
||United States: Institutional Review Board
Keywords provided by University of Alabama at Birmingham:
Additional relevant MeSH terms:
ClinicalTrials.gov processed this record on July 26, 2014
Digestive System Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases