Cystic Fibrosis
Conditions
Brief summary
The purpose of this study is to explore the combination of Ataluren and ivacaftor as a treatment for patients with a specific cystic fibrosis mutation
Detailed description
In about 10% of patients with CF, the defect in the gene is known as a stop mutation. This mutation truncates the cystic fibrosis transductive regulator (CFTR) protein production by introducing a premature stop in the messenger RNA (mRNA), this type of mutation is known as a stop mutation. Ataluren is a novel, oral drug that promotes this gene to work effectively and readthrough that premature stop sign. It is hypothesized that ivacaftor may increase the efficacy of Ataluren by activating a specific protein that may not be functioning properly.
Interventions
DRUGIvacaftor/Ataluren
Both drugs were given in combination for 48 week study period
Sponsors
University of Alabama at Birmingham
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
19 Years to No maximum
Healthy volunteers
No
Inclusion criteria
1. Evidence of signed and dated informed consent/assent document(s) indicating that the subject (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial. 2. Age ≥19 years 3. Body weight ≥16 kg 4. Diagnosis of cystic fibrosis and documentation of the presence of a nonsense mutations of the CFTR gene, as determined by historical genotyping 5. Ability to perform a valid, reproducible spirometry with demonstration of a forced expiratory volume in 1second (FEV1) ≥30% of predicted for age, gender, and height. 6. If the subject is sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the study drug administration 7. Willingness and ability to comply with all study procedures and assessments. 8. Currently receiving Ataluren for nonsense mutations through other clinical trial access.
Exclusion criteria
1. Any change (initiation, change in type of drug, dose modification, schedule modification, interruption, discontinuation, or re-initiation) in a chronic treatment/prophylaxis regimen for CF or for CF-related conditions within 2 weeks prior to screening. 2. Evidence of pulmonary exacerbation or acute upper or lower respiratory tract infection (including viral illnesses) within 2 weeks prior to screening. 3. Ongoing immunosuppressive therapy (other than corticosteroids up to 10mg/d equivalent of prednisone) 4. Ongoing warfarin, phenytoin, or tolbutamide therapy. 5. History of solid organ or hematological transplantation. 6. A history of positive hepatitis B surface antigen test, hepatitis C antibody test, or human immunodeficiency 7. Major complications of lung disease (including massive hemoptysis, pneumothorax, or pleural effusion) within 4 weeks prior to screening. 8. Pregnancy or breast-feeding. 9. Current smoker or a smoking history of ≥10 pack-years (number of cigarette packs/day × number of years smoked). 10. Prior or ongoing medical condition (eg, renal failure, alcoholism, drug abuse, psychiatric condition), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results. \-
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Lung Function | Baseline through 48 weeks | change in lung function as measured by spirometry |
Countries
United States
Participant flow
Recruitment details
N of 1 trial
Pre-assignment details
there was no multiple arms in this study and no multiple groups
Participants by arm
| Arm | Count |
|---|---|
| Ivacaftor/Ataluren Ivacaftor/Ataluren | 1 |
| Total | 1 |
Baseline characteristics
| Characteristic | Ivacaftor/Ataluren |
|---|---|
| Age, Categorical <=18 years | 0 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 1 Participants |
| Race/Ethnicity, Customized caucasian, non-hispanic | 1 Participants |
| Region of Enrollment United States | 1 participants |
| Sex: Female, Male Female | 1 Participants |
| Sex: Female, Male Male | 0 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 1 |
| other Total, other adverse events | 1 / 1 |
| serious Total, serious adverse events | 0 / 1 |
Outcome results
Primary
Lung Function
change in lung function as measured by spirometry
Time frame: Baseline through 48 weeks
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| Ivacaftor/Ataluren | Lung Function | 35 Liters |