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

Sponsor

Steven M Rowe (Other)

Overall Status

Completed

CT.gov ID

NCT01521338

Collaborator

(none)

120

Enrollment

Locations

Actual Duration (Months)

3.3

Patients Per Site

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
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 Design

Study Type:

Observational

Actual Enrollment :

120 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Jan 1, 2014

Actual Primary Completion Date :

Jun 1, 2021

Actual Study Completion Date :

Jun 1, 2021

Outcome Measures

Primary Outcome Measures

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

Change in sweat chloride between Visit 1 and Visit 5. [VISIT 1 AND VISIT 5]
Change in sweat chloride between Visit 1 and Visit 5.
Change in body weight between Visit 1 and Visit 5. [VISIT 1 AND VISIT 5]
Change in body weight between Visit 1 and Visit 5.

Other Outcome Measures

ASSOCIATION BETWEEN PRIMARY AND SECONDARY ENDPOINTS [1 YEAR]
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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

6 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of Alabama at Birmingham	Birmingham	Alabama	United States	35233
2	Phoenix Childrens Hospital	Phoenix	Arizona	United States
3	University of Arkansas for Medical Sciences	Little Rock	Arkansas	United States
4	Stanford University Medical Center	Palo Alto	California	United States	94394
5	The Children's Hospital Colarado	Aurora	Colorado	United States	80045
6	National Jewish Health	Denver	Colorado	United States	80206
7	Yale	New Haven	Connecticut	United States
8	University of Chicago	Chicago	Illinois	United States	60637
9	Riley Hospital for Children Indiana University Medical Center	Indianapolis	Indiana	United States	46202
10	Indianapolis University	Indianapolis	Indiana	United States
11	University of Kentucky	Lexington	Kentucky	United States
12	The Johns Hopkins University	Baltimore	Maryland	United States	21287
13	Massachusetts General Hospital	Boston	Massachusetts	United States	02114
14	Children's Hospital Boston	Boston	Massachusetts	United States	02115
15	University of Michigan	Ann Arbor	Michigan	United States
16	Children's Hospital of Michigan	Detroit	Michigan	United States	48201
17	Grand Rapids CF Center	Grand Rapids	Michigan	United States	49503
18	University of Minnesota	Minneapolis	Minnesota	United States	55455
19	The Children's Mercy Hospital--University of Missouri at Kansas City	Kansas City	Missouri	United States	64108
20	Dartmouth Hitchcock Clinic-Lebanon	Lebanon	New Hampshire	United States
21	Women and Children's Hospital of Buffalo	Buffalo	New York	United States	14222
22	University of North Carolina at Chapel Hill	Chapel Hill	North Carolina	United States	27599
23	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio	United States	45229
24	University Hospitals Case Medical Center/Rainbow Babies and Children's Hospital	Cleveland	Ohio	United States	44106
25	Nation Wide Childrens Hospital	Columbus	Ohio	United States
26	Toledo Children's Hospital	Toledo	Ohio	United States
27	Oregon Health Sciences University	Portland	Oregon	United States	97239
28	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States
29	Children's Hospital of Pittsburgh of UPMC- University of Pittsburgh	Pittsburgh	Pennsylvania	United States	15213
30	Medical University of South Carolina	Charleston	South Carolina	United States	29403
31	Vanderbilt Children's Hospital Vanderbilt University Medical Center	Nashville	Tennessee	United States	37232-9500
32	University of Texas Southwestern/Children's Medical Center of Dallas	Dallas	Texas	United States	75390-8558
33	Baylor College of Medicine/Texas Children's Hospital	Houston	Texas	United States	77030
34	Intermountain Cystic Fibrosis Center University of Utah Health Sciences Center	Salt Lake City	Utah	United States	84132
35	West Virginia University CF Medical Center	Morgantown	West Virginia	United States	26506
36	Froedtert & Medical College of Wisconsin	Milwaukee	Wisconsin	United States