Trial Outcomes & Findings for Extension Study of Ataluren in Participants With Nonsense Mutation Cystic Fibrosis (NCT NCT02456103)

NCT ID: NCT02456103

Last Updated: 2020-04-27

Results Overview

TEAE: any untoward medical occurrence or undesirable event that begins or worsens following administration of study drug, whether or not considered related to study drug by Investigator. Serious adverse event (SAE): an adverse event (AE) resulting in any of following outcomes or deemed significant for any other reason: death, initial or prolonged inpatient hospitalization, life-threatening experience (immediate risk of dying) or persistent or significant disability/incapacity. Except for cystic fibrosis (CF) pulmonary exacerbations, an event wasn't reported as an SAE, if event was exclusively a relapse or an expected change or progression of baseline CF. AEs included both SAEs and nonserious AEs. AEs classified according to National Cancer Institute Common Terminology Criteria for Adverse Events version 3.0 and coded using Medical Dictionary for Regulatory Activities. A summary of SAEs and all nonserious AEs, regardless of causality, is located in the Reported Adverse Events section.

Recruitment status

TERMINATED

Study phase

PHASE3

Target enrollment

246 participants

Primary outcome timeframe

Baseline up to Week 100

Results posted on

2020-04-27

Participant Flow

All eligible participants, including those who received placebo in the double-blind study (PTC124-GD-021-CF; NCT02139306), were enrolled to this open-label extension study. To avoid interruption in treatment, when possible, Screening/Baseline for this extension study was to occur on the same day as the End-of-Study visit for the double-blind study.

Participant milestones

Participant milestones
Measure
Ataluren
Participants were administered ataluren orally at a dose of 10 milligrams/grams (mg/kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks.
Overall Study
STARTED
246
Overall Study
As-Treated Population
245
Overall Study
Intent-to-treat (ITT) Population
244
Overall Study
COMPLETED
0
Overall Study
NOT COMPLETED
246

Reasons for withdrawal

Reasons for withdrawal
Measure
Ataluren
Participants were administered ataluren orally at a dose of 10 milligrams/grams (mg/kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks.
Overall Study
Study Closure
207
Overall Study
Physician Decision
1
Overall Study
Required prohibited medications
5
Overall Study
Protocol Violation
1
Overall Study
Adverse Event
5
Overall Study
Abnormal Laboratory Value
2
Overall Study
Lost to Follow-up
1
Overall Study
Withdrawal by Subject
24

Baseline Characteristics

Extension Study of Ataluren in Participants With Nonsense Mutation Cystic Fibrosis

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
Ataluren
n=245 Participants
Participants were administered ataluren orally at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks.
Age, Continuous
23.1 years
STANDARD_DEVIATION 10.88 • n=5 Participants
Sex: Female, Male
Female
113 Participants
n=5 Participants
Sex: Female, Male
Male
132 Participants
n=5 Participants
Race/Ethnicity, Customized
Asian
4 participants
n=5 Participants
Race/Ethnicity, Customized
White
235 participants
n=5 Participants
Race/Ethnicity, Customized
White-Arabic/North African Heritage
1 participants
n=5 Participants
Race/Ethnicity, Customized
Non-White
5 participants
n=5 Participants
Race/Ethnicity, Customized
Hispanic or Latino
16 participants
n=5 Participants
Race/Ethnicity, Customized
Not Hispanic or Latino
229 participants
n=5 Participants

PRIMARY outcome

Timeframe: Baseline up to Week 100

Population: Participants who received at least 1 dose of ataluren (As-Treated Population).

TEAE: any untoward medical occurrence or undesirable event that begins or worsens following administration of study drug, whether or not considered related to study drug by Investigator. Serious adverse event (SAE): an adverse event (AE) resulting in any of following outcomes or deemed significant for any other reason: death, initial or prolonged inpatient hospitalization, life-threatening experience (immediate risk of dying) or persistent or significant disability/incapacity. Except for cystic fibrosis (CF) pulmonary exacerbations, an event wasn't reported as an SAE, if event was exclusively a relapse or an expected change or progression of baseline CF. AEs included both SAEs and nonserious AEs. AEs classified according to National Cancer Institute Common Terminology Criteria for Adverse Events version 3.0 and coded using Medical Dictionary for Regulatory Activities. A summary of SAEs and all nonserious AEs, regardless of causality, is located in the Reported Adverse Events section.

Outcome measures

Outcome measures
Measure
Ataluren
n=245 Participants
Participants were administered ataluren orally at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks.
Number of Participants With Treatment Emergent Adverse Events (TEAEs)
At least 1 TEAE
222 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs)
Mild TEAE
28 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs)
Moderate TEAE
147 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs)
Severe TEAE
46 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs)
Life-Threatening TEAE
1 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs)
Fatal TEAE
0 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs)
Serious TEAE
89 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs)
TEAE Unrelated to Study Drug
140 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs)
TEAE Unlikely Related to Study Drug
55 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs)
TEAE Possibly Related to Study Drug
23 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs)
TEAE Probably Related to Study Drug
4 Participants

PRIMARY outcome

Timeframe: Baseline up to Week 100

Population: Participants who received at least 1 dose of ataluren (As-Treated Population).

Clinical laboratory results considered clinically meaningful were determined by Investigator. Serum biochemistry parameters: sodium, potassium, chloride, bicarbonate, blood urea nitrogen, creatinine, magnesium, calcium, phosphorus, uric acid, glucose, total protein, albumin, globulin, bilirubin, creatine kinase, lactate dehydrogenase, alanine aminotransferase, aspartate aminotransferase, gamma glutamyl transferase, alkaline phosphatase, total cholesterol, high-density lipoprotein, low-density lipoprotein, triglycerides, and cystatin C. Hematology parameters: white blood cell count, hemoglobin, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin, red cell count with morphology, and platelet count. Urinalysis parameters: pH, specific gravity, glucose, ketones, blood, protein, creatinine, urobilinogen, bilirubin, nitrite, and leukocyte esterase. A summary of all SAEs/nonserious AEs, regardless of causality, is located in the Reported Adverse Events section.

Outcome measures

Outcome measures
Measure
Ataluren
n=245 Participants
Participants were administered ataluren orally at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks.
Number of Participants With a Clinically Meaningful Abnormal Clinical Laboratory (Serum Biochemistry, Hematology, and Urinalysis) Parameter
0 Participants

SECONDARY outcome

Timeframe: Baseline, Week 24

Population: Participants who received at least 1 dose of ataluren and have at least 1 postbaseline efficacy assessment (ITT Population) and had evaluable FEV1 data.

Pulmonary function of percent-predicted FEV1 was measured using a spirometer. FEV1 is the volume of air that can forcibly be blown out in 1 second. Each percent-predicted FEV1 was based gender, age, and the height value obtained at the same study visit. The percentage of change in percent-predicted of FEV1 was calculated as follows: (percent-predicted FEV1 - Baseline percent-predicted FEV1/Baseline percent-predicted FEV1)\*100.

Outcome measures

Outcome measures
Measure
Ataluren
n=233 Participants
Participants were administered ataluren orally at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks.
Change From Baseline in Percent-Predicted Forced Expiratory Volume in 1 Second (FEV1) as Measured by Spirometry at Week 24
Baseline
60.219 percentage of predicted FEV1
Standard Deviation 17.6163
Change From Baseline in Percent-Predicted Forced Expiratory Volume in 1 Second (FEV1) as Measured by Spirometry at Week 24
Change from Baseline at Week 24
0.015 percentage of predicted FEV1
Standard Deviation 6.7180

SECONDARY outcome

Timeframe: Baseline, Week 24

Population: Participants who received at least 1 dose of ataluren and have at least 1 postbaseline efficacy assessment (ITT Population) and had evaluable FVC data.

Pulmonary function of FVC was measured using a spirometer. FVC is the volume of air that can forcibly be blown out. Each percent-predicted FVC was based gender, age, and the height value obtained at the same study visit. The percentage of change in percent-predicted of FVC was calculated as follows: (percent-predicted FVC - Baseline percent-predicted FVC/Baseline percent-predicted FVC)\*100.

Outcome measures

Outcome measures
Measure
Ataluren
n=233 Participants
Participants were administered ataluren orally at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks.
Change From Baseline in Percent-Predicted of Forced Vital Capacity (FVC) as Measured by Spirometry at Week 24
Baseline
75.249 percentage of predicted FVC
Standard Deviation 15.8508
Change From Baseline in Percent-Predicted of Forced Vital Capacity (FVC) as Measured by Spirometry at Week 24
Change from Baseline at Week 24
0.166 percentage of predicted FVC
Standard Deviation 6.5276

SECONDARY outcome

Timeframe: Baseline, Week 24

Population: Participants who received at least 1 dose of ataluren and have at least 1 postbaseline efficacy assessment (ITT Population) and had evaluable FEF25-75 data.

Pulmonary function of FEF25-75 was measured using a spirometer. FEF25-75 is the forced expiratory flow between 25% and 75% of vital capacity. Each percent-predicted FEF25-75 was based gender, age, and the height value obtained at the same study visit. The percentage of change in percent-predicted of FEF25-75 was calculated as follows: (percent-predicted FEF25-75 - Baseline percent-predicted FEF25-75/Baseline percent-predicted FEF25-75)\*100.

Outcome measures

Outcome measures
Measure
Ataluren
n=233 Participants
Participants were administered ataluren orally at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks.
Change From Baseline in Forced Expiratory Flow Between 25% and 75% of Expiration (FEF25-75) as Measured by Spirometry at Week 24
Baseline
38.099 percentage of FEF25-75
Standard Deviation 22.0980
Change From Baseline in Forced Expiratory Flow Between 25% and 75% of Expiration (FEF25-75) as Measured by Spirometry at Week 24
Change from Baseline at Week 24
0.698 percentage of FEF25-75
Standard Deviation 13.1241

SECONDARY outcome

Timeframe: Baseline up to Week 48

Population: Participants who received at least 1 dose of ataluren and have at least 1 postbaseline efficacy assessment (ITT Population).

A modified Fuchs' exacerbation was defined as an event requiring treatment with or without intravenous antibiotics for any 4 of the following 12 symptoms: change in sputum; new or increased hemoptysis; increased cough; increased dyspnea; fatigue; temperature \>38°C; anorexia; sinus pain; change in sinus discharge; change in physical examination of the chest; decrease in pulmonary function by 10 percent or more from a previously recorded value; or radiographic changes indicative of pulmonary function. The 48-week rate = (the total number of events/ treatment duration by week)\*48.

Outcome measures

Outcome measures
Measure
Ataluren
n=244 Participants
Participants were administered ataluren orally at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks.
Rate of Pulmonary Exacerbations as Defined by Modified Fuch's Criteria Over 48 Weeks
1.051 exacerbations
Standard Deviation 2.1654

Adverse Events

Ataluren

Serious events: 89 serious events
Other events: 191 other events
Deaths: 1 deaths

Serious adverse events

Serious adverse events
Measure
Ataluren
n=245 participants at risk
Participants were administered ataluren orally at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks.
Infections and infestations
Bronchopulmonary aspergillosis allergic
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Device related infection
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Gastroenteritis viral
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Infective pulmonary exacerbation of cystic fibrosis
25.7%
63/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Mycobacterium abscessus infection
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Peritonitis
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Pneumonia
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Pseudomonas infection
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Respiratory syncytial virus infection
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Sinusitis
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Viral pericarditis
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Gastrointestinal disorders
Abdominal pain lower
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Gastrointestinal disorders
Distal intestinal obstruction syndrome
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Gastrointestinal disorders
Duodenal ulcer
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Gastrointestinal disorders
Enteritis
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Gastrointestinal disorders
Intestinal obstruction
1.2%
3/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Gastrointestinal disorders
Pancreatitis
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Respiratory, thoracic and mediastinal disorders
Acute respiratory failure
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Respiratory, thoracic and mediastinal disorders
Aspiration
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Respiratory, thoracic and mediastinal disorders
Asthma
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Respiratory, thoracic and mediastinal disorders
Dyspnoea exertional
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Respiratory, thoracic and mediastinal disorders
Haemoptysis
1.6%
4/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Investigations
Forced expiratory volume decreased
0.82%
2/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Investigations
Protein urine present
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Investigations
Pseudomonas test positive
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Investigations
Pulmonary function test decreased
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Renal and urinary disorders
Nephrolithiasis
0.82%
2/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Renal and urinary disorders
Renal colic
0.82%
2/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Renal and urinary disorders
Renal failure acute
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Congenital, familial and genetic disorders
Cystic fibrosis lung
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Metabolism and nutrition disorders
Dehydration
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Neoplasms benign, malignant and unspecified (incl cysts and polyps)
Squamous cell carcinoma of the cervix
0.88%
1/113 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Nervous system disorders
Depressed level of consciousness
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Pregnancy, puerperium and perinatal conditions
Pregnancy
0.88%
1/113 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Appendicitis
0.41%
1/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).

Other adverse events

Other adverse events
Measure
Ataluren
n=245 participants at risk
Participants were administered ataluren orally at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks.
Infections and infestations
Infective pulmonary exacerbation of cystic fibrosis
55.5%
136/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Influenza
5.3%
13/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Sinusitis
10.2%
25/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Upper respiratory tract infection
8.6%
21/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Infections and infestations
Viral upper respiratory tract infection
12.2%
30/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Respiratory, thoracic and mediastinal disorders
Cough
13.1%
32/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Respiratory, thoracic and mediastinal disorders
Haemoptysis
5.7%
14/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Investigations
Forced expiratory volume decreased
6.5%
16/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Nervous system disorders
Headache
6.5%
16/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
Gastrointestinal disorders
Nausea
5.7%
14/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).
General disorders
Pyrexia
5.3%
13/245 • Baseline up to Week 100
Adverse events collected from participants who received at least 1 dose of ataluren (As-Treated Population).

Additional Information

Patient Advocacy

PTC Therapeutics, Inc.

Phone: 1-866-562-4620

Results disclosure agreements

  • Principal investigator is a sponsor employee The Sponsor can review results and/or communications prior to public release and can embargo communications regarding trial results for a period that is up to 180 days from the time submitted to the Sponsor for review. The Sponsor may consult with the PI to require changes to the communication or extend the embargo.
  • Publication restrictions are in place

Restriction type: OTHER