G551D Observational Study- Expanded to Additional Genotypes and Extended for Long Therm Follow up (GOAL-e2)

Study Overview
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Brief Summary
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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.

Detailed Description
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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. 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. Optional: • 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 a cup

Official Title
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G551D Observational Study (GOAL)-Expanded to Additional Genotypes and Extended for Long Term Follow up (GOAL-e2)

Conditions
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Cystic Fibrosis

Participation Criteria
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Eligibility Criteria
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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): G551D on at least 1 allele 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 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.

Ages Eligible for Study
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Minimum Age: 6 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Primary Endpoint for the Core Study | Change in FEV1% predicted between Visit 1 and visit 5 | Change in FEV1% predicted between Visit 1 and Visit 5 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in sweat chloride between Visit 1 and Visit 5. | Change in sweat chloride between Visit 1 and Visit 5. | VISIT 1 AND VISIT 5 | 
| Change in body weight between Visit 1 and Visit 5. | Change in body weight between Visit 1 and Visit 5. | VISIT 1 AND VISIT 5 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Cystic Fibrosis, G551D, G551D Mutation