Trial Outcomes & Findings for Study of Ataluren in ≥2 to <5 Year-Old Male Participants With Duchenne Muscular Dystrophy (NCT NCT02819557)

NCT ID: NCT02819557

Last Updated: 2020-08-28

Results Overview

A TEAE was 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. An SAE was an adverse event (AE) resulting in any of the 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 not related to dystrophinopathy. An event was not reported as an SAE, if event was exclusively a relapse or expected change or progression of baseline dystrophinopathy. AEs included both SAEs and nonserious AEs. AEs classified according to National Cancer Institute Common Terminology Criteria for Adverse Events version 4.0 and coded using Medical Dictionary for Regulatory Activities. A summary of SAEs and all non-serious AEs, regardless of causality, is located in the Reported Adverse Events section.

Recruitment status

COMPLETED

Study phase

PHASE2

Target enrollment

14 participants

Primary outcome timeframe

Baseline up to Week 56

Results posted on

2020-08-28

Participant Flow

Participants aged ≥2 to \<5 years old with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation in the dystrophin gene were recruited for this study.

Participants in the Evaluable Population included all participants who received at least 1 dose of ataluren and had a baseline and at least 1 postbaseline measurement for Timed Function Test (TFT), North Star Ambulatory Assessment (NSAA), or response to the palatability of ataluren questions.

Participant milestones

Participant milestones
Measure	Ataluren Participants were administered ataluren orally at a dose of 10 milligrams/kilograms (mg/kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening (for a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Overall Study STARTED	14
Overall Study Safety Population	14
Overall Study Pharmacokinetics (PK) Population	14
Overall Study Evaluable Population	14
Overall Study COMPLETED	14
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Study of Ataluren in ≥2 to <5 Year-Old Male Participants With Duchenne Muscular Dystrophy

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Age, Continuous	3.4 years STANDARD_DEVIATION 0.76 • n=5 Participants
Sex: Female, Male Female	0 Participants n=5 Participants
Sex: Female, Male Male	14 Participants n=5 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	3 Participants n=5 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	11 Participants n=5 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=5 Participants
Race (NIH/OMB) Asian	3 Participants n=5 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=5 Participants
Race (NIH/OMB) Black or African American	0 Participants n=5 Participants
Race (NIH/OMB) White	11 Participants n=5 Participants
Race (NIH/OMB) More than one race	0 Participants n=5 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants

PRIMARY outcome

Timeframe: Baseline up to Week 56

Population: All participants who received at least 1 dose of ataluren (Safety Population).

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Number of Participants With Treatment Emergent Adverse Events (TEAEs), TEAEs Leading to Discontinuation, and Serious Adverse Events (SAEs) At least 1 TEAE	14 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs), TEAEs Leading to Discontinuation, and Serious Adverse Events (SAEs) Mild TEAE	5 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs), TEAEs Leading to Discontinuation, and Serious Adverse Events (SAEs) Moderate TEAE	8 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs), TEAEs Leading to Discontinuation, and Serious Adverse Events (SAEs) Severe TEAE	1 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs), TEAEs Leading to Discontinuation, and Serious Adverse Events (SAEs) TEAE Related to Study Drug	5 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs), TEAEs Leading to Discontinuation, and Serious Adverse Events (SAEs) TEAE Leading to Participant Study Discontinuation	0 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs), TEAEs Leading to Discontinuation, and Serious Adverse Events (SAEs) Serious TEAE	0 Participants

PRIMARY outcome

Timeframe: Baseline up to Week 56

Population: All participants who received at least 1 dose of ataluren (Safety Population).

Clinical laboratory results that were considered clinically meaningful were to be determined by the Investigator and Sponsor. Biochemistry parameters included sodium, potassium, chloride, bicarbonate, blood urea nitrogen, creatinine, magnesium, calcium, phosphorus, uric acid, glucose, total protein, albumin, bilirubin (total, direct, and indirect), aspartate aminotransferase, alanine aminotransferase, gamma-glutamyl transferase, creatine kinase, lactate dehydrogenase, alkaline phosphatase, total cholesterol, high-density lipoprotein, low-density lipoprotein, triglycerides, and cystatin C. Hematology parameters included white blood cell count with differential, hemoglobin, hematocrit, other red cell parameters, and platelet count. Urinalysis parameters included pH, specific gravity, glucose, ketones, blood, protein, urobilinogen, bilirubin, nitrite, and leukocyte esterase. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Number of Participants With a Clinically Meaningful Abnormal Clinical Laboratory (Biochemistry, Hematology, and Urinalysis) Parameter	0 Participants

PRIMARY outcome

Timeframe: Baseline up to Week 56

Population: All participants who received at least 1 dose of ataluren (Safety Population).

ECG results that were considered clinically meaningful were to be determined by the Investigator. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Number of Participants With a Clinically Meaningful Abnormal Electrocardiogram (ECG) Test Results	0 Participants

PRIMARY outcome

Timeframe: Baseline up to Week 56

Population: All participants who received at least 1 dose of ataluren (Safety Population).

Dose-limiting toxicity was measured through clinical evaluations for potential hepatic and renal toxicities. The clinical evaluations included the following: * Hepatic: The participant's medical history, hepatitis screening results, all clinical blood values (particularly serum bilirubin, gamma-glutamyl transferase \[GGT\], aspartate aminotransferase \[AST\], and alanine aminotransferase \[ALT\] values), and all concomitant medications were reviewed. * Renal: The participant's medical history, all clinical blood and urine renal values, serum electrolytes, medications, and potential pre- or post-renal conditions were reviewed.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Number of Participants With a Dose-Limiting Toxicity as Measured by Hepatic and Renal Toxicity	0 participants

SECONDARY outcome

Timeframe: 0 (predose), 1, 2, 4, and 6 (postdose) hours on Days 1 and 28

Population: All participants who received at least 1 dose of ataluren and had at least 1 PK concentration datum (PK Population).

Ataluren concentrations in plasma were analyzed using a validated high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) method.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Pharmacokinetics: Maximum Observed Plasma Concentration From Time Zero up to 6 Hours After the Morning Dose (Cmax0-6hr) Day 1	15.95 microgram/milliliter (µg/mL) Standard Deviation 9.51
Pharmacokinetics: Maximum Observed Plasma Concentration From Time Zero up to 6 Hours After the Morning Dose (Cmax0-6hr) Day 28	12.54 microgram/milliliter (µg/mL) Standard Deviation 4.43

SECONDARY outcome

Timeframe: 0 (predose), 1, 2, 4, and 6 (postdose) hours on Days 1 and 28

Population: All participants who received at least 1 dose of ataluren and had at least 1 PK concentration datum (PK Population).

Ataluren concentrations in plasma were analyzed using a validated HPLC-MS/MS method.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Pharmacokinetics: Time to Reach Maximum Observed Plasma Concentration From Time Zero up to 6 Hours After the Morning Dose (Tmax0-6hr) Day 1	3.84 hours Standard Deviation 1.82
Pharmacokinetics: Time to Reach Maximum Observed Plasma Concentration From Time Zero up to 6 Hours After the Morning Dose (Tmax0-6hr) Day 28	2.72 hours Standard Deviation 1.98

SECONDARY outcome

Timeframe: 0 (predose), 1, 2, 4, 6, 8, and 10 (postdose) hours on Days 1 and 28

Population: All participants who received at least 1 dose of ataluren and had at least 1 PK concentration datum (PK Population).

Ataluren concentrations in plasma were analyzed using a validated HPLC-MS/MS method. AUC0-10hr was measured using the linear trapezoidal rule during the ascending portion of the curve and the log-trapezoidal rule during the descending portion of the curve.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Area Under the Plasma Concentration Time Curve From Time Zero up to 10 Hours After the Morning Dose (AUC0-10hr) Day 1	101.64 hour*μg/mL Standard Deviation 58.52
Area Under the Plasma Concentration Time Curve From Time Zero up to 10 Hours After the Morning Dose (AUC0-10hr) Day 28	82.13 hour*μg/mL Standard Deviation 27.43

SECONDARY outcome

Timeframe: 0 (predose), 1, 2, 4, and 6 (postdose) hours on Days 1 and 28

Population: All participants who received at least 1 dose of ataluren and had at least 1 PK concentration datum (PK Population).

Ataluren concentrations in plasma were analyzed using a validated HPLC-MS/MS method.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Pharmacokinetics: Concentration at the End of the First (Morning) Dose Interval (Ctrough6hr) Day 1	9.12 microgram per milliliter (µg/ml) Standard Deviation 8.88
Pharmacokinetics: Concentration at the End of the First (Morning) Dose Interval (Ctrough6hr) Day 28	5.43 microgram per milliliter (µg/ml) Standard Deviation 3.15

SECONDARY outcome

Timeframe: Baseline, Week 28 and Week 52

Population: All participants who received at least 1 dose of ataluren and had a baseline and at least 1 postbaseline measurement for TFT, NSAA, or response to the palatability of ataluren questions (Evaluable Population) and had evaluable data for the applicable timed function test.

TFTs included time to stand from supine position (rise to standing), time to run/walk 10 meters (m), and time to ascend/descend 4 stairs. A decrease from baseline reflects faster completion of the functional task and, thus, better muscle function. If the time taken to perform a test exceeded 30 seconds or if a participant could not perform the test due to disease progression (PD), a value of 30 seconds was used.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Ascend 4 Stairs, Baseline	7.1 seconds Standard Deviation 6.95
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Rise to Standing, Baseline	7.2 seconds Standard Deviation 7.21
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Rise to Standing, Change from Baseline at Week 28	-3.1 seconds Standard Deviation 6.47
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Rise to Standing, Change from Baseline at Week 52	-3.1 seconds Standard Deviation 6.50
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Walk/Run 10 m, Baseline	6.6 seconds Standard Deviation 2.37
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Walk/Run 10 m, Change from Baseline at Week 28	-0.8 seconds Standard Deviation 1.54
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Walk/Run 10 m, Change from Baseline at Week 52	-1.1 seconds Standard Deviation 1.35
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Ascend 4 Stairs, Change from Baseline at Week 28	-1.8 seconds Standard Deviation 4.85
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Ascend 4 Stairs, Change from Baseline at Week 52	-2.6 seconds Standard Deviation 5.00
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Descend 4 Stairs, Baseline	7.5 seconds Standard Deviation 3.95
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Descend 4 Stairs, Change from Baseline at Week 28	-0.6 seconds Standard Deviation 1.93
Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs Descend 4 Stairs, Change from Baseline at Week 52	-2.2 seconds Standard Deviation 2.58

SECONDARY outcome

Timeframe: Baseline, Week 28 and Week 52

NSAA consists of 17 activities, including items assessing abilities necessary to remain functionally ambulant (that is, ability to rise from floor, to get from lying to sitting/sitting to standing, and that are known to progressively deteriorate); items that can be partly present in DMD early stages (that is, assessing head raise and standing on heels); and a number of activities such as hopping, jumping, and running. Since the boys were \<5 years old, revised 16 point, 8-point, and 3-point scales were used over the 17 point scale. Scores for evaluations=0 (Unable to achieve independently), 1 (Modified method but achieved goal independent of physical assistance), or 2 (Normal, no obvious modification of activity). Maximum total score for the 16-point scale=32, 8-point scale=16, and 3-point scale=6. If an activity couldn't be performed due to PD/loss of ambulation, a score of 0 was assigned. Change from Baseline calculated by subtracting Baseline value from value at Week 28 and Week 52.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Change From Baseline in Physical Function as Measured by the NSAA 16-Point Scale, Baseline	16.0 units on a scale Standard Deviation 4.66
Change From Baseline in Physical Function as Measured by the NSAA 16-Point Scale, Change from Baseline at Week 28	3.5 units on a scale Standard Deviation 3.43
Change From Baseline in Physical Function as Measured by the NSAA 16-Point Scale, Change from Baseline at Week 52	5.5 units on a scale Standard Deviation 4.43
Change From Baseline in Physical Function as Measured by the NSAA 8-Point Scale, Baseline	10.5 units on a scale Standard Deviation 2.56
Change From Baseline in Physical Function as Measured by the NSAA 8-Point Scale, Change from Baseline at Week 28	1.5 units on a scale Standard Deviation 1.39
Change From Baseline in Physical Function as Measured by the NSAA 8-Point Scale, Change from Baseline at Week 52	2.3 units on a scale Standard Deviation 2.13
Change From Baseline in Physical Function as Measured by the NSAA 3-Point Scale, Baseline	5.4 units on a scale Standard Deviation 0.63
Change From Baseline in Physical Function as Measured by the NSAA 3-Point Scale, Change from Baseline at Week 28	0.5 units on a scale Standard Deviation 0.78
Change From Baseline in Physical Function as Measured by the NSAA 3-Point Scale, Change from Baseline at Week 52	0.3 units on a scale Standard Deviation 0.73

SECONDARY outcome

Timeframe: Baseline, Weeks 4, 16, 28, 40, 52, and 56

Population: All participants who received at least 1 dose of ataluren (Safety Population) and had evaluable height data.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Change From Baseline in Height of Participants at Weeks 4, 16, 28, 40, 52, and 56 Baseline	99.43 centimeters Standard Deviation 5.278
Change From Baseline in Height of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 4	0.83 centimeters Standard Deviation 1.595
Change From Baseline in Height of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 16	1.84 centimeters Standard Deviation 1.466
Change From Baseline in Height of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 28	3.11 centimeters Standard Deviation 1.386
Change From Baseline in Height of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 40	3.82 centimeters Standard Deviation 1.506
Change From Baseline in Height of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 52	5.95 centimeters Standard Deviation 2.096
Change From Baseline in Height of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 56	6.04 centimeters Standard Deviation 2.075

SECONDARY outcome

Timeframe: Baseline, Weeks 4, 16, 28, 40, 52, and 56

Population: All participants who received at least 1 dose of ataluren (Safety Population) and had evaluable weight data.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Change From Baseline in Weight of Participants at Weeks 4, 16, 28, 40, 52, and 56 Baseline	16.99 kg Standard Deviation 3.257
Change From Baseline in Weight of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 4	-0.04 kg Standard Deviation 0.502
Change From Baseline in Weight of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 16	0.73 kg Standard Deviation 0.974
Change From Baseline in Weight of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 28	1.16 kg Standard Deviation 0.940
Change From Baseline in Weight of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 40	1.39 kg Standard Deviation 0.882
Change From Baseline in Weight of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 52	1.90 kg Standard Deviation 1.259
Change From Baseline in Weight of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 56	2.13 kg Standard Deviation 1.340

SECONDARY outcome

Timeframe: Baseline, Weeks 4, 16, 28, 40, 52, and 56

Population: All participants who received at least 1 dose of ataluren (Safety Population).

Body mass index is an estimate of body fat based on body weight divided by height squared.

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Change From Baseline in Body Mass Index of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 4	-0.346 kilograms per square meter (kg/m^2) Standard Deviation 0.6804
Change From Baseline in Body Mass Index of Participants at Weeks 4, 16, 28, 40, 52, and 56 Baseline	17.094 kilograms per square meter (kg/m^2) Standard Deviation 2.2196
Change From Baseline in Body Mass Index of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 16	0.026 kilograms per square meter (kg/m^2) Standard Deviation 0.3822
Change From Baseline in Body Mass Index of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 28	0.030 kilograms per square meter (kg/m^2) Standard Deviation 0.5567
Change From Baseline in Body Mass Index of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 40	0.008 kilograms per square meter (kg/m^2) Standard Deviation 0.6399
Change From Baseline in Body Mass Index of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 52	-0.186 kilograms per square meter (kg/m^2) Standard Deviation 0.9237
Change From Baseline in Body Mass Index of Participants at Weeks 4, 16, 28, 40, 52, and 56 Change at Week 56	0.015 kilograms per square meter (kg/m^2) Standard Deviation 1.2161

SECONDARY outcome

Timeframe: Baseline up to Week 28

To assess palatability characteristics, participants/parents or guardians were asked to provide a response of "Strongly disagree", "Disagree", "Neither agree or disagree", "Agree", or "Strongly Agree" to the following 3 questions: Question 1. "Is the medicine palatable?" Question 2. "On the basis of reaction / facial expression of your child, do you think that the medication is pleasant?" Question 3."You sometimes have problems in giving the medication to your child because he/she refuses to take it or throws it up?"

Outcome measures

Outcome measures
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 1, Strongly disagree	0 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 1, Disagree	0 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 1, Neither Agree nor Disagree	2 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 1, Agree	0 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 1, Strongly agree	0 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 1, No Response	12 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 2, Strongly disagree	0 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 2, Disagree	2 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 2, Neither Agree nor Disagree	2 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 2, Agree	6 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 2, Strongly Agree	4 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 2, No response	0 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 3, Strongly Disagree	5 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 3, Disagree	7 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 3, Neither agree or disagree	0 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 3, Agree	2 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 3, Strongly Agree	0 Participants
Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire Question 3, No response	0 Participants

Adverse Events

Ataluren

Serious events: 0 serious events

Other events: 14 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure	Ataluren n=14 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 a total of 40 mg/kg/day) for up to 52 weeks. Dose was provided based upon the weight of each participant, which was assessed every 12 weeks.
Gastrointestinal disorders Abdominal Pain Upper	14.3% 2/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Gastrointestinal disorders Constipation	14.3% 2/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Gastrointestinal disorders Flatulence	14.3% 2/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Gastrointestinal disorders Nausea	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Gastrointestinal disorders Stomatitis	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Gastrointestinal disorders Vomiting	21.4% 3/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
General disorders Fatigue	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
General disorders Gait Disturbance	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
General disorders Pyrexia	42.9% 6/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Bronchitis Viral	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Conjunctivitis	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Croup Infectious	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Ear Infection	35.7% 5/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Gastroenteritis	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Gastroenteritis Norovirus	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Gingival Abscess	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Hordeolum	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Influenza	14.3% 2/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Nasopharyngitis	28.6% 4/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Pharyngitis Streptococcal	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Respiratory Tract Infection	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Rhinitis	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Upper Respiratory Tract Infection	14.3% 2/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Infections and infestations Viral Rash	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Injury, poisoning and procedural complications Arthropod Bite	14.3% 2/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Injury, poisoning and procedural complications Contusion	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Injury, poisoning and procedural complications Fall	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Injury, poisoning and procedural complications Tibia Fracture	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Investigations Hepatic Enzyme Increased	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Metabolism and nutrition disorders Decreased Appetite	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Metabolism and nutrition disorders Hyperlipidaemia	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Metabolism and nutrition disorders Metabolic Acidosis	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Musculoskeletal and connective tissue disorders Arthralgia	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Musculoskeletal and connective tissue disorders Pain In Extremity	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Nervous system disorders Headache	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Psychiatric disorders Abnormal Behaviour	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Psychiatric disorders Enuresis	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Psychiatric disorders Insomnia	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Renal and urinary disorders Chromaturia	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Respiratory, thoracic and mediastinal disorders Cough	21.4% 3/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Respiratory, thoracic and mediastinal disorders Epistaxis	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Respiratory, thoracic and mediastinal disorders Rhinorrhoea	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Respiratory, thoracic and mediastinal disorders Tonsillar Hypertrophy	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Skin and subcutaneous tissue disorders Hypertrichosis	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Skin and subcutaneous tissue disorders Rash	21.4% 3/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Skin and subcutaneous tissue disorders Rash Generalised	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).
Skin and subcutaneous tissue disorders Urticaria	7.1% 1/14 • Baseline up to Week 56 Adverse events were collected from all participants who received at least 1 dose of ataluren (Safety Population).

Additional Information

Patient Advocacy

PTC Therapeutics, Inc.

Phone: 1-866-562-4620

Email: [email protected]

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