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

NCT ID: NCT01521338

Last Updated: 2021-06-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

120 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-01-31

Study Completion Date

2021-06-30

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

Conditions

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Cystic Fibrosis

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

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

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.
Minimum Eligible Age

6 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Steven M Rowe

OTHER

Sponsor Role lead

Responsible Party

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Steven M Rowe

Principal Investigator

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

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Steven M Rowe, MD

Role: PRINCIPAL_INVESTIGATOR

University of Alabama at Birmingham

Locations

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University of Alabama at Birmingham

Birmingham, Alabama, United States

Site Status

Phoenix Childrens Hospital

Phoenix, Arizona, United States

Site Status

University of Arkansas for Medical Sciences

Little Rock, Arkansas, United States

Site Status

Stanford University Medical Center

Palo Alto, California, United States

Site Status

The Children's Hospital Colarado

Aurora, Colorado, United States

Site Status

National Jewish Health

Denver, Colorado, United States

Site Status

Yale

New Haven, Connecticut, United States

Site Status

University of Chicago

Chicago, Illinois, United States

Site Status

Riley Hospital for Children Indiana University Medical Center

Indianapolis, Indiana, United States

Site Status

Indianapolis University

Indianapolis, Indiana, United States

Site Status

University of Kentucky

Lexington, Kentucky, United States

Site Status

The Johns Hopkins University

Baltimore, Maryland, United States

Site Status

Massachusetts General Hospital

Boston, Massachusetts, United States

Site Status

Children's Hospital Boston

Boston, Massachusetts, United States

Site Status

University of Michigan

Ann Arbor, Michigan, United States

Site Status

Children's Hospital of Michigan

Detroit, Michigan, United States

Site Status

Grand Rapids CF Center

Grand Rapids, Michigan, United States

Site Status

University of Minnesota

Minneapolis, Minnesota, United States

Site Status

The Children's Mercy Hospital--University of Missouri at Kansas City

Kansas City, Missouri, United States

Site Status

Dartmouth Hitchcock Clinic-Lebanon

Lebanon, New Hampshire, United States

Site Status

Women and Children's Hospital of Buffalo

Buffalo, New York, United States

Site Status

University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, United States

Site Status

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status

University Hospitals Case Medical Center/Rainbow Babies and Children's Hospital

Cleveland, Ohio, United States

Site Status

Nation Wide Childrens Hospital

Columbus, Ohio, United States

Site Status

Toledo Children's Hospital

Toledo, Ohio, United States

Site Status

Oregon Health Sciences University

Portland, Oregon, United States

Site Status

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status

Children's Hospital of Pittsburgh of UPMC- University of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status

Medical University of South Carolina

Charleston, South Carolina, United States

Site Status

Vanderbilt Children's Hospital Vanderbilt University Medical Center

Nashville, Tennessee, United States

Site Status

University of Texas Southwestern/Children's Medical Center of Dallas

Dallas, Texas, United States

Site Status

Baylor College of Medicine/Texas Children's Hospital

Houston, Texas, United States

Site Status

Intermountain Cystic Fibrosis Center University of Utah Health Sciences Center

Salt Lake City, Utah, United States

Site Status

West Virginia University CF Medical Center

Morgantown, West Virginia, United States

Site Status

Froedtert & Medical College of Wisconsin

Milwaukee, Wisconsin, United States

Site Status

Countries

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United States

References

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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.

Reference Type DERIVED
PMID: 30568035 (View on PubMed)

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.

Reference Type DERIVED
PMID: 30279125 (View on PubMed)

Other Identifiers

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F11120200

Identifier Type: -

Identifier Source: org_study_id

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