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

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

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.

Study Overview

• Status: Completed
• Conditions: Cystic Fibrosis

Detailed Description

• 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

• Study Type: Observational
• Enrollment (Actual): 120

Contacts and Locations

Study Locations

• United States
  • Alabama
    • Birmingham, Alabama, United States, 35233
      • University of Alabama at Birmingham
  • Arizona
    • Phoenix, Arizona, United States
      • Phoenix Childrens Hospital
  • Arkansas
    • Little Rock, Arkansas, United States
      • University of Arkansas for Medical Sciences
  • California
    • Palo Alto, California, United States, 94394
      • Stanford University Medical Center
  • Colorado
    • Aurora, Colorado, United States, 80045
      • The Children's Hospital Colarado
    • Denver, Colorado, United States, 80206
      • National Jewish Health
  • Connecticut
    • New Haven, Connecticut, United States
      • Yale
  • Illinois
    • Chicago, Illinois, United States, 60637
      • University of Chicago
  • Indiana
    • Indianapolis, Indiana, United States, 46202
      • Riley Hospital for Children Indiana University Medical Center
    • Indianapolis, Indiana, United States
      • Indianapolis University
  • Kentucky
    • Lexington, Kentucky, United States
      • University Of Kentucky
  • Maryland
    • Baltimore, Maryland, United States, 21287
      • The Johns Hopkins University
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts General Hospital
    • Boston, Massachusetts, United States, 02115
      • Children's Hospital Boston
  • Michigan
    • Ann Arbor, Michigan, United States
      • University of Michigan
    • Detroit, Michigan, United States, 48201
      • Children's Hospital of Michigan
    • Grand Rapids, Michigan, United States, 49503
      • Grand Rapids CF Center
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
      • University of Minnesota
  • Missouri
    • Kansas City, Missouri, United States, 64108
      • The Children's Mercy Hospital--University of Missouri at Kansas City
  • New Hampshire
    • Lebanon, New Hampshire, United States
      • Dartmouth Hitchcock Clinic-Lebanon
  • New York
    • Buffalo, New York, United States, 14222
      • Women and Children's Hospital of Buffalo
  • North Carolina
    • Chapel Hill, North Carolina, United States, 27599
      • University of North Carolina at Chapel Hill
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Cincinnati Children's Hospital Medical Center
    • Cleveland, Ohio, United States, 44106
      • University Hospitals Case Medical Center/Rainbow Babies and Children's Hospital
    • Columbus, Ohio, United States
      • Nation Wide Childrens Hospital
    • Toledo, Ohio, United States
      • Toledo Children's Hospital
  • Oregon
    • Portland, Oregon, United States, 97239
      • Oregon Health Sciences University
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States
      • Children's Hospital of Philadelphia
    • Pittsburgh, Pennsylvania, United States, 15213
      • Children's Hospital of Pittsburgh of UPMC- University of Pittsburgh
  • South Carolina
    • Charleston, South Carolina, United States, 29403
      • Medical University of South Carolina
  • Tennessee
    • Nashville, Tennessee, United States, 37232-9500
      • Vanderbilt Children's Hospital Vanderbilt University Medical Center
  • Texas
    • Dallas, Texas, United States, 75390-8558
      • University of Texas Southwestern/Children's Medical Center of Dallas
    • Houston, Texas, United States, 77030
      • Baylor College of Medicine/Texas Children's Hospital
  • Utah
    • Salt Lake City, Utah, United States, 84132
      • Intermountain Cystic Fibrosis Center University of Utah Health Sciences Center
  • West Virginia
    • Morgantown, West Virginia, United States, 26506
      • West Virginia University CF Medical Center
  • Wisconsin
    • Milwaukee, Wisconsin, United States
      • Froedtert & Medical College of Wisconsin

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Patients with Cystic Fibrosis and the G551D, R117H and non-G551D gating Mutations ages 6 years old and older

Description

Inclusion Criteria for Core Study:

1. Male or female ≥ 6 years of age at Visit 1. :

2. Must have a clinical diagnosis of cystic fibrosis and the following CFTR mutations:

   1. For Cohort 1 (Closed to enrollment June 30, 2012):

      G551D on at least 1 allele Any known or unknown mutations allowed on second allele.

   2. For Cohort 2:

      R117H on at least 1 allele Any known or unknown mutation on the second allele except G551D

   3. 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

3. 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.)
4. Clinically stable with no significant changes in health status within the 14 days prior to Visit 1.
5. Written informed consent (and assent when applicable) obtained from subject or subject's legal representative.

Exclusion Criteria for Core Study

1. 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.
2. Any upper or lower respiratory symptoms requiring treatment with oral, inhaled or IV antibiotics within the 2 weeks prior to Visit 1.
3. History of solid organ transplantation.
4. 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.

Study Plan

How is the study designed?

What is the study measuring?

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

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
ASSOCIATION BETWEEN PRIMARY AND SECONDARY ENDPOINTS	The core and sub-studies will be linked so that associations between primary and secondary endpoints from each sub-study and clinical parameters (e.g., spirometry, weight, and sweat chloride) collected as part of the Core Study may be explored.	1 YEAR

Collaborators and Investigators

• Sponsor: Steven M Rowe

Publications and helpful links

General Publications

• Donaldson SH, Laube BL, Corcoran TE, Bhambhvani P, Zeman K, Ceppe A, Zeitlin PL, Mogayzel PJ Jr, Boyle M, Locke LW, Myerburg MM, Pilewski JM, Flanagan B, Rowe SM, Bennett WD. Effect of ivacaftor on mucociliary clearance and clinical outcomes in cystic fibrosis patients with G551D-CFTR. JCI Insight. 2018 Dec 20;3(24):e122695. doi: 10.1172/jci.insight.122695.
• van de Peppel IP, Doktorova M, Berkers G, de Jonge HR, Houwen RHJ, Verkade HJ, Jonker JW, Bodewes FAJA. IVACAFTOR restores FGF19 regulated bile acid homeostasis in cystic fibrosis patients with an S1251N or a G551D gating mutation. J Cyst Fibros. 2019 Mar;18(2):286-293. doi: 10.1016/j.jcf.2018.09.001. Epub 2018 Sep 29.

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2014
• Primary Completion (Actual): June 1, 2021
• Study Completion (Actual): June 1, 2021

Study Registration Dates

• First Submitted: January 25, 2012
• First Submitted That Met QC Criteria: January 27, 2012
• First Posted (Estimate): January 30, 2012

Study Record Updates

• Last Update Posted (Actual): June 30, 2021
• Last Update Submitted That Met QC Criteria: June 28, 2021
• Last Verified: June 1, 2021

More Information

Terms related to this study

• Keywords: Cystic Fibrosis; G551D; G551D Mutation
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Respiratory Tract Diseases; Lung Diseases; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Pancreatic Diseases; Fibrosis; Cystic Fibrosis
• Other Study ID Numbers: F11120200