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

Status: Active - Enrolling.
PI: Marie Egan, MD
Contact: Catalina Guzman (203) 785-4971


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.


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:
  • a. 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.
  • b. For Cohort 2: a) R117H on at least 1 allele b) Any known or unknown mutation on the second allele except G551D
  • c. For Cohort 3: a) A Non-G551D gating mutation on one allele: (G178R, S549N, S549R, G551S, G970R, G1244E, S1251N, S1255P, G1349D) b) 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.