Clinical trial NCT01521338: G551D Observational Study- Expanded to Additional Genotypes and Extended for Long Therm Follow up (GOAL-e2)
Official title: G551D Observational Study (GOAL)-Expanded to Additional Genotypes and Extended for Long Term Follow up (GOAL-e2)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Cystic Fibrosis
Keywords: Cystic Fibrosis
G551D
G551D Mutation
Lead sponsor: University of Alabama at Birmingham
Sponsor class: OTHER
First posted: 2012-01-30
Enrollment: 120
Sex: ALL
Minimum age (years): 6
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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

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.

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

Eligibility criteria: 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.

Primary outcomes:
measure: Primary Endpoint for the Core Study
timeFrame: Change in FEV1% predicted between Visit 1 and Visit 5
Secondary outcomes:
measure: Change in sweat chloride between Visit 1 and Visit 5.
timeFrame: VISIT 1 AND VISIT 5
measure: Change in body weight between Visit 1 and Visit 5.
timeFrame: VISIT 1 AND VISIT 5
Other outcomes:
measure: ASSOCIATION BETWEEN PRIMARY AND SECONDARY ENDPOINTS
timeFrame: 1 YEAR
Locations:
city: Birmingham
country: United States
facility: University of Alabama at Birmingham
state: Alabama
city: Phoenix
country: United States
facility: Phoenix Childrens Hospital
state: Arizona
city: Little Rock
country: United States
facility: University of Arkansas for Medical Sciences
state: Arkansas
city: Palo Alto
country: United States
facility: Stanford University Medical Center
state: California
city: Aurora
country: United States
facility: The Children's Hospital Colarado
state: Colorado
city: Denver
country: United States
facility: National Jewish Health
state: Colorado
city: New Haven
country: United States
facility: Yale
state: Connecticut
city: Chicago
country: United States
facility: University of Chicago
state: Illinois
city: Indianapolis
country: United States
facility: Riley Hospital for Children Indiana University Medical Center
state: Indiana
city: Indianapolis
country: United States
facility: Indianapolis University
state: Indiana
city: Lexington
country: United States
facility: University of Kentucky
state: Kentucky
city: Baltimore
country: United States
facility: The Johns Hopkins University
state: Maryland
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: Boston
country: United States
facility: Children's Hospital Boston
state: Massachusetts
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
city: Detroit
country: United States
facility: Children's Hospital of Michigan
state: Michigan
city: Grand Rapids
country: United States
facility: Grand Rapids CF Center
state: Michigan
city: Minneapolis
country: United States
facility: University of Minnesota
state: Minnesota
city: Kansas City
country: United States
facility: The Children's Mercy Hospital--University of Missouri at Kansas City
state: Missouri
city: Lebanon
country: United States
facility: Dartmouth Hitchcock Clinic-Lebanon
state: New Hampshire
city: Buffalo
country: United States
facility: Women and Children's Hospital of Buffalo
state: New York
city: Chapel Hill
country: United States
facility: University of North Carolina at Chapel Hill
state: North Carolina
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Cleveland
country: United States
facility: University Hospitals Case Medical Center/Rainbow Babies and Children's Hospital
state: Ohio
city: Columbus
country: United States
facility: Nation Wide Childrens Hospital
state: Ohio
city: Toledo
country: United States
facility: Toledo Children's Hospital
state: Ohio
city: Portland
country: United States
facility: Oregon Health Sciences University
state: Oregon
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Pittsburgh
country: United States
facility: Children's Hospital of Pittsburgh of UPMC- University of Pittsburgh
state: Pennsylvania
city: Charleston
country: United States
facility: Medical University of South Carolina
state: South Carolina
city: Nashville
country: United States
facility: Vanderbilt Children's Hospital Vanderbilt University Medical Center
state: Tennessee
city: Dallas
country: United States
facility: University of Texas Southwestern/Children's Medical Center of Dallas
state: Texas
city: Houston
country: United States
facility: Baylor College of Medicine/Texas Children's Hospital
state: Texas
city: Salt Lake City
country: United States
facility: Intermountain Cystic Fibrosis Center University of Utah Health Sciences Center
state: Utah
city: Morgantown
country: United States
facility: West Virginia University CF Medical Center
state: West Virginia
city: Milwaukee
country: United States
facility: Froedtert & Medical College of Wisconsin
state: Wisconsin
Study officials:
affiliation: University of Alabama at Birmingham
name: Steven M Rowe, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.