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

  • Study HIC#:1401013233
  • Last Updated:07/15/2021

The primary objective of this study is to obtain specimens for the CFFT Specimen Biorepository and to record clinical parameters from cystic fibrosis patients with the G551D, R117H, and non-G551D gating CFTR mutations, some of whom may be treated with ivacaftor (a CFTR potentiator drug). The secondary objective of the study is to conduct four specific sub-studies to explore the impact of treatment with ivacaftor on various experimental outcome measures directly and indirectly relevant to CFTR modulation.

  • Age6 years and older
  • GenderBoth
  • Start Date05/29/2014
  • End Date01/31/2016

Trial Purpose and Description

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.

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:
    • 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
  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.

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