The purpose of this study is to determine whether ivacaftor, a recently FDA-approved CFTR potentiator, improves bone micro-architecture and strength in patients with cystic fibrosis with at least one G551D CFTR mutation.
Description: Change in cortical volumetric bone mineral density at the radius
Measure: Bone Microarchitecture and Strength Measures of the Radius and Tibia Time: Baseline and 24 monthsDescription: Change in PA spine bone mineral density
Measure: Areal Bone Mineral Density as Measured by DXA Time: Baseline and 24 monthsDescription: Change in osteocalcin
Measure: Bone Turnover Markers Time: Baseline and 24 monthsCohort
There is one SNP
Cystic Fibrosis Related Bone Disease: the Role of CFTR The purpose of this study is to determine whether ivacaftor, a recently FDA-approved CFTR potentiator, improves bone micro-architecture and strength in patients with cystic fibrosis with at least one G551D CFTR mutation. --- G551D ---
COHORT 1 Inclusion Criteria: - Age 6 to 75 years old - Established diagnosis of CF with at least one abnormal G551D-CFTR allele - Eligibility for and intent to start treatment with ivacaftor or started treatment with ivacaftor within previous 6 months Exclusion Criteria: - Psychiatric or mental incapacity that would preclude subject from assenting to study participation - Current pregnancy - History of organ transplantation - History of Burkholderia dolosa infection COHORT 2: Subjects will be grouped by gender, age and race to match subjects in Cohort 1 within two years. --- G551D ---
- Any medical or psychiatric condition or situation that would compromise subject safety, informed consent/assent, treatment compliance, follow-up measurements, or data quality COHORT 1 Inclusion Criteria: - Age 6 to 75 years old - Established diagnosis of CF with at least one abnormal G551D-CFTR allele - Eligibility for and intent to start treatment with ivacaftor or started treatment with ivacaftor within previous 6 months Exclusion Criteria: - Psychiatric or mental incapacity that would preclude subject from assenting to study participation - Current pregnancy - History of organ transplantation - History of Burkholderia dolosa infection COHORT 2: Subjects will be grouped by gender, age and race to match subjects in Cohort 1 within two years. --- G551D ---
- Any medical or psychiatric condition or situation that would compromise subject safety, informed consent/assent, treatment compliance, follow-up measurements, or data quality Cystic Fibrosis Related Bone Disease Bone Diseases Cystic Fibrosis Fibrosis Ivacaftor, a CFTR potentiator, has recently been FDA approved for the treatment of cystic fibrosis in patients with at least one G551D CFTR mutation. --- G551D ---