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

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 by University of Alabama at Birmingham
Sponsor:
Information provided by (Responsible Party):
Dr. Steven M Rowe, University of Alabama at Birmingham
ClinicalTrials.gov Identifier:
NCT01521338
First received: January 25, 2012
Last updated: September 8, 2014
Last verified: September 2014
  Purpose

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
Cystic Fibrosis

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: G551D Observational Study (GOAL)-Expanded to Additional Genotypes and Extended for Long Therm Follow up (GOAL-e2)

Resource links provided by NLM:


Further study details as provided by University of Alabama at Birmingham:

Primary Outcome Measures:
  • Primary Endpoint for the Core Study [ Time Frame: Change in FEV1% predicted between Visit 1 and Visit 5 ] [ Designated as safety issue: No ]
    Change in FEV1% predicted between Visit 1 and visit 5


Secondary Outcome Measures:
  • Change in sweat chloride between Visit 1 and Visit 5. [ Time Frame: VISIT 1 AND VISIT 5 ] [ Designated as safety issue: No ]
    Change in sweat chloride between Visit 1 and Visit 5.

  • Change in body weight between Visit 1 and Visit 5. [ Time Frame: VISIT 1 AND VISIT 5 ] [ Designated as safety issue: No ]
    Change in body weight between Visit 1 and Visit 5.


Other Outcome Measures:
  • ASSOCIATION BETWEEN PRIMARY AND SECONDARY ENDPOINTS [ Time Frame: 1 YEAR ] [ Designated as safety issue: No ]
    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.


Biospecimen Retention:   Samples With DNA

Blood, Sputum, Urine


Estimated Enrollment: 120
Study Start Date: January 2014
Estimated Study Completion Date: January 2015
Estimated Primary Completion Date: January 2015 (Final data collection date for primary outcome measure)
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

Ages Eligible for Study:   6 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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

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) a) G551D on at least 1 allele b) Any known or unknown mutations allowed on second allele.
    2. For Cohort 2:
    1. R117H on at least 1 allele
    2. Any known or unknown mutation on the second allele except G551D c. For Cohort 3:
    1. A Non-G551D gating mutation on one allele: (G178R, S549N, S549R, G551S, G970R, G1244E, S1251N, S1255P, G1349D)
    2. 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01521338

Contacts
Contact: Ginger Reeves, BS, RRT, CCRC 205-939-9568 greeves@peds.uab.edu
Contact: Heather Hathorne, MAE, RRC, CCRC 205-939-9568 hhathorne@peds.uab.edu

  Show 39 Study Locations
Sponsors and Collaborators
Dr. Steven M Rowe
Investigators
Principal Investigator: Steven M Rowe, MD University of Alabama at Birmingham
  More Information

No publications provided

Responsible Party: Dr. Steven M Rowe, Principal Investigator, University of Alabama at Birmingham
ClinicalTrials.gov Identifier: NCT01521338     History of Changes
Other Study ID Numbers: F11120200
Study First Received: January 25, 2012
Last Updated: September 8, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by University of Alabama at Birmingham:
Cystic Fibrosis
G551D
G551D Mutation

Additional relevant MeSH terms:
Fibrosis
Cystic Fibrosis
Pathologic Processes
Pancreatic Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases

ClinicalTrials.gov processed this record on September 18, 2014