Trial Outcomes & Findings for Study of Ataluren (PTC124) in Nonambulatory Participants With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD) (NCT NCT01009294)

Last Updated: 2020-07-29

Results Overview

A TEAE is any untoward medical occurrence or undesirable event(s) experienced in a participant that begins or worsens following administration of the study drug or study treatment, whether or not considered related to the treatment by the Investigator. A serious adverse event (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 nmDBMD. AEs included both SAEs and non-serious AEs. AEs were classified according to National Cancer Institute Common Terminology Criteria for Adverse Events version 3.0 (CTCAE) and coded using the Medical Dictionary for Regulatory Activities (MedDRA). A summary of serious and all other non-serious adverse events, regardless of causality, is located in the Reported Adverse Events module.

Recruitment status

TERMINATED

Study phase

PHASE2

Target enrollment

6 participants

Primary outcome timeframe

Baseline up to Day 50

Results posted on

2020-07-29

Participant Flow

A total of 11 participants with nonsense mutation Duchenne/Becker muscular dystrophy (nmDBMD) and were nonambulatory signed the informed consent form and were screened for eligibility. Six of these participants were enrolled at 2 sites. Three of the participants were receiving chronic corticosteroid therapy.

When the Sponsor terminated the study, the participants were told to discontinue ataluren treatment, and to return all unused ataluren to the site for return to the Sponsor. Because of difficulty of traveling to the clinic for these nonambulatory participants, the planned final visits were not performed.

Participant milestones

Participant milestones
Measure	Ataluren Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 milligrams/kilograms (mg/kg) in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Overall Study STARTED	6
Overall Study Received at Least 1 Dose of Study Drug	6
Overall Study COMPLETED	0
Overall Study NOT COMPLETED	6

Reasons for withdrawal

Reasons for withdrawal
Measure	Ataluren Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 milligrams/kilograms (mg/kg) in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Overall Study Study discontinued by Sponsor	6

Baseline Characteristics

Study of Ataluren (PTC124) in Nonambulatory Participants With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD)

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Age, Customized 12 to 17 years	3 Participants n=93 Participants
Age, Customized 18 to 20 years	3 Participants n=93 Participants
Sex: Female, Male Female	0 Participants n=93 Participants
Sex: Female, Male Male	6 Participants n=93 Participants

PRIMARY outcome

Timeframe: Baseline up to Day 50

Population: All enrolled participants who received at least 1 dose of study drug.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Number of Participants With Treatment Emergent Adverse Events (TEAEs) TEAEs	1 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs) Treatment Emergent SAEs	0 Participants
Number of Participants With Treatment Emergent Adverse Events (TEAEs) AEs Related to Study Treatment	0 Participants

SECONDARY outcome

Timeframe: Baseline and Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable upper limb function tasks data.

Arm and hand function were assessed using the Jebsen test, a standardized clinical evaluation of tasks important to daily living. The test comprises of unilateral subtests performed with each hand (the dominant \[DOM\] hand and the non-DOM hand): moving and stacking light (250 grams) and heavy (500 grams) objects; picking up small, commonly encountered objects; stacking checkers; simulated feeding; simulated page turning; and writing. Participant performance of each task was timed. Longer time to complete the test indicates worse hand function.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Large Heavy Objects, DOM Hand, Baseline	11 seconds Interval 5.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Large Heavy Objects, Non-DOM Hand Baseline	11 seconds Interval 5.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Large Heavy Objects, Non-DOM Hand, Week 6	11 seconds Interval 7.0 to 14.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Large Light Objects, DOM Hand, Baseline	9 seconds Interval 4.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Large Light Objects, DOM Hand, Week 6	15 seconds Interval 7.0 to 22.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Large Light Objects, Non-DOM Hand Baseline	7 seconds Interval 3.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Large Light Objects, Non-DOM Hand, Week 6	12 seconds Interval 6.0 to 18.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Stacking Large Heavy Objects, DOM Hand, Baseline	118 seconds Interval 10.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Stacking Large Heavy Objects, DOM Hand, Week 6	45 seconds Interval 27.0 to 63.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Stacking Large Heavy Objects, Non-DOM Hand, Week 6	92 seconds Interval 63.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Stacking Large Light Objects, DOM Hand, Week 6	32 seconds Interval 22.0 to 42.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Stacking Large Light Objects, Non-DOM Hand, Week 6	69 seconds Interval 18.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Stacking Checkers, DOM Hand, Baseline	7 seconds Interval 4.0 to 11.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Stacking Checkers, DOM Hand, Week 6	7 seconds Interval 6.0 to 7.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Simulated Page Turning, Non-DOM Hand, Baseline	13 seconds Interval 4.0 to 51.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Simulated Page Turning, Non-DOM Hand, Week 6	12 seconds Interval 6.0 to 18.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Writing, DOM Hand, Baseline	22 seconds Interval 11.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Large Heavy Objects, DOM Hand, Week 6	10 seconds Interval 9.0 to 11.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Stacking Large Heavy Objects Non-DOM Hand Baseline	120 seconds Interval 28.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Stacking Large Light Objects, DOM Hand, Baseline	69 seconds Interval 5.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Stacking Large Light Objects Non-DOM Hand Baseline	23 seconds Interval 8.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Small Common Objects, DOM Hand, Baseline	16 seconds Interval 7.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Small Common Objects, DOM Hand, Week 6	19 seconds Interval 18.0 to 19.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Small Common Objects Non-DOM Hand Baseline	13 seconds Interval 8.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Lifting Small Common Objects, Non-DOM Hand, Week 6	15 seconds Interval 12.0 to 17.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Simulated Feeding, DOM Hand, Baseline	22 seconds Interval 9.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Simulated Feeding, DOM Hand, Week 6	40 seconds Interval 15.0 to 64.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Simulated Feeding, Non-DOM Hand, Baseline	38 seconds Interval 12.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Simulated Feeding, Non-DOM Hand, Week 6	34 seconds Interval 20.0 to 47.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Simulated Page Turning, DOM Hand, Baseline	12 seconds Interval 4.0 to 24.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Simulated Page Turning, DOM Hand, Week 6	15 seconds Interval 9.0 to 21.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Writing, DOM Hand, Week 6	66 seconds Interval 11.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Writing, Non-DOM Hand, Baseline	47 seconds Interval 25.0 to 120.0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Writing, Non-DOM Hand, Week 6	78 seconds Interval 36.0 to 120.0

SECONDARY outcome

Timeframe: Baseline and Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable upper limb function tasks data.

Upper extremity function was assessed using the Brooke Upper Extremity Functional Rating Scale, following standardized procedures. The Brooke Upper Extremity Functional Rating Scale graded arm and shoulder function from 1 to 6, with higher values indicating less function. A rating of "1" was used when the participant was able to abduct his arms in a full circle until they touch above his head, whereas a rating of "6" was used when the participant was unable to raise his hands to his mouth and had no useful function of hands.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Upper Limb Function as Measured by the Brooke Upper Extremity Functional Rating Scale Baseline	3 score on a scale Interval 2.0 to 5.0
Upper Limb Function as Measured by the Brooke Upper Extremity Functional Rating Scale Week 6	3 score on a scale Interval 3.0 to 3.0

SECONDARY outcome

Timeframe: Baseline and Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable EK Scale data.

Activities of daily living after loss of ambulation were measured using the EK scale. The EK scale is an ordinal scale ranging from 0 to 30 points where 0 represents the highest level of independent function and 30 the lowest. The scale consists of 10 categories (each scored 0 to 3), involving different functional domains including 1) ability to use wheelchair, 2) ability to transfer from wheelchair, 3) ability to stand, 4) ability to balance in the wheelchair, 5) ability to move arms, 6) ability to use hands and arms when eating, 7) ability to turn in bed, 8) ability to cough, 9) ability to speak, and 10) physical well-being. The administration of the EK scale consisted of an interview of the participant to capture how he performs the tasks of daily life (as described by Categories 1 to 9) and how he perceives his wellbeing (as described by Category 10). The interviewer observed the participant and assigned the final score for the tasks that could be observed in the clinic.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Use Wheelchair, Baseline	2 score on a scale Interval 2.0 to 3.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Use Wheelchair, Week 6	1 score on a scale Interval 0.0 to 2.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Transfer From Wheelchair, Baseline	2 score on a scale Interval 2.0 to 3.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Stand, Baseline	3 score on a scale Interval 1.0 to 3.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Balance in the Wheelchair, Week 6	0 score on a scale Interval 0.0 to 0.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Move Arms, Week 6	1 score on a scale Interval 1.0 to 1.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Use Hands/Arms When Eating, Baseline	2 score on a scale Interval 1.0 to 3.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Use Hands/Arms When Eating, Week 6	2 score on a scale Interval 1.0 to 2.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Turn in Bed, Baseline	1 score on a scale Interval 0.0 to 3.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Turn in Bed, Week 6	1 score on a scale Interval 0.0 to 1.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Cough, Baseline	0 score on a scale Interval 0.0 to 0.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Speak, Baseline	0 score on a scale Interval 0.0 to 0.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Speak, Week 6	0 score on a scale Interval 0.0 to 0.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Physical Well-Being, Baseline	0 score on a scale Interval 0.0 to 0.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Cough, Week 6	0 score on a scale Interval 0.0 to 0.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Physical Well-Being, Week 6	1 score on a scale Interval 0.0 to 1.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Transfer From Wheelchair, Week 6	2 score on a scale Interval 2.0 to 2.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Stand, Week 6	2 score on a scale Interval 1.0 to 3.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Balance in the Wheelchair, Baseline	0 score on a scale Interval 0.0 to 3.0
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Ability to Move Arms, Baseline	2 score on a scale Interval 0.0 to 3.0

SECONDARY outcome

Timeframe: Baseline and Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable range of motion data.

Goniometry was performed to test active and passive range-of motion (RoM) of the left (L) and right (R) shoulder, elbow, and wrist following standardized procedures. The observed angle for passive and active motion for each joint was measured in degrees. Greater degree of motion indicates better response.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Elbow Extension, Supine Passive RoM, Baseline	-10 degrees Interval -20.0 to 0.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Elbow Extension, Supine Passive RoM. Baseline	-13 degrees Interval -25.0 to 0.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Elbow Extension, Supine Passive RoM, Week 6	-20 degrees Interval -20.0 to -20.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Elbow Flexion, Sitting Active RoM, Baseline	115 degrees Interval 0.0 to 140.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Elbow Flexion, Sitting Active RoM, Week 6	-10 degrees Interval -20.0 to 0.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Elbow Flexion, Sitting Active RoM, Baseline	120 degrees Interval 0.0 to 140.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Elbow Flexion, Sitting Active RoM, Week 6	70 degrees Interval 0.0 to 140.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Elbow Flexion, Supine Passive RoM, Baseline	133 degrees Interval 120.0 to 140.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Elbow Flexion, Supine Passive RoM, Week 6	135 degrees Interval 125.0 to 145.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Shoulder Abduction, Sitting Active RoM, Baseline	18 degrees Interval 0.0 to 55.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Shoulder Abduction, Sitting Active RoM, Week 6	0 degrees Interval 0.0 to 0.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Shoulder Abduction, Sitting Active RoM, Baseline	20 degrees Interval 0.0 to 70.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Shoulder Abduction, Sitting Active RoM, Week 6	5 degrees Interval 0.0 to 10.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Shoulder Abduction, Supine Passive RoM, Baseline	170 degrees Interval 105.0 to 180.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Shoulder Abduction, Supine Passive RoM, Baseline	180 degrees Interval 120.0 to 180.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Shoulder Flexion, Sitting Active RoM, Baseline	10 degrees Interval 0.0 to 80.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Shoulder Flexion, Sitting Active RoM, Week 6	0 degrees Interval 0.0 to 0.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Shoulder Flexion, Supine Passive RoM, Baseline	165 degrees Interval 160.0 to 180.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Shoulder Flexion, Supine Passive RoM, Week 6	170 degrees Interval 160.0 to 180.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Shoulder Flexion, Supine Passive RoM, Baseline	170 degrees Interval 150.0 to 180.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Shoulder Flexion, Supine Passive RoM, Week 6	175 degrees Interval 170.0 to 180.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Wrist Extension, Sitting Active RoM, Baseline	68 degrees Interval 20.0 to 80.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Wrist Extension, Sitting Passive RoM, Week 6	73 degrees Interval 60.0 to 85.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Wrist Extension, Sitting Passive RoM, Baseline	78 degrees Interval 55.0 to 90.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Wrist Extension, Sitting Passive RoM, Week 6	78 degrees Interval 70.0 to 85.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Wrist Flexion, Sitting Passive RoM, Baseline	75 degrees Interval 35.0 to 95.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Wrist Flexion, Sitting Passive RoM, Baseline	80 degrees Interval 35.0 to 90.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Wrist Flexion, Sitting Passive RoM, Week 6	68 degrees Interval 45.0 to 90.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Elbow Extension, Supine Passive RoM, Week 6	-15 degrees Interval -15.0 to -15.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Elbow Flexion, Supine Passive RoM, Week 6	138 degrees Interval 130.0 to 145.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Elbow Flexion, Supine Passive RoM, Baseline	135 degrees Interval 110.0 to 140.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Shoulder Abduction, Supine Passive RoM, Week 6	175 degrees Interval 170.0 to 180.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Shoulder Abduction, Supine Passive RoM, Week 6	175 degrees Interval 170.0 to 180.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Shoulder Flexion, Sitting Active RoM, Baseline	10 degrees Interval 0.0 to 45.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Shoulder Flexion, Sitting Active RoM, Week 6	10 degrees Interval 0.0 to 20.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Wrist Extension, Sitting Active RoM, Week 6	63 degrees Interval 55.0 to 70.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Wrist Extension, Sitting Active RoM, Baseline	65 degrees Interval 30.0 to 90.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry R Wrist Extension, Sitting Active RoM, Week 6	73 degrees Interval 70.0 to 75.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Wrist Extension, Sitting Passive RoM, Baseline	73 degrees Interval 40.0 to 100.0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry L Wrist Flexion, Sitting Passive RoM, Week 6	75 degrees Interval 60.0 to 90.0

SECONDARY outcome

Timeframe: Baseline and Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable upper extremity myometry data.

Upper extremity myometry was performed using a hand-held dynamometer following standardized procedures. The measured strength (peak force) was reported in Newtons. There are 0.22 pounds (lbs) in 1 Newton and approximately 10 Newton (9.80665 Newton) in 1 kilogram (kg). The threshold/range of the hand-held dynamometer is 0 to 500 Newtons. Bilateral assessments were done, and 3 measurements were recorded from each muscle group on each side, when possible. When the measurements were done in duplicate or triplicate, the best value was used. Greater value indicates better measurement.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Elbow Flexion, Supine, Baseline	7 Newton Interval 0.0 to 23.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Elbow Flexion, Supine, Week 6	9 Newton Interval 3.0 to 14.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Elbow Extension, Supine, Baseline	12 Newton Interval 2.0 to 26.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Elbow Extension, Supine, Week 6	16 Newton Interval 14.0 to 18.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Elbow Extension, Supine, Baseline	12 Newton Interval 1.0 to 26.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Elbow Extension, Supine, Week 6	15 Newton Interval 13.0 to 16.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Elbow Flexion, Supine, Baseline	7 Newton Interval 1.0 to 20.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Finger Pinch, Sitting, Baseline	10 Newton Interval 3.0 to 20.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Finger Pinch, Sitting, Week 6	6 Newton Interval 2.0 to 9.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Finger Pinch, Sitting, Week 6	7 Newton Interval 5.0 to 8.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Hand Grip, Sitting, Baseline	13 Newton Interval 5.0 to 23.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Hand Grip, Sitting, Week 6	13 Newton Interval 5.0 to 20.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Hand Grip, Sitting, Baseline	15 Newton Interval 7.0 to 34.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Key Grip, Sitting, Baseline	13 Newton Interval 5.0 to 27.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Key Grip, Sitting, Week 6	15 Newton Interval 8.0 to 22.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Key Grip, Sitting, Baseline	11 Newton Interval 5.0 to 24.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Key Grip, Sitting, Week 6	18 Newton Interval 6.0 to 30.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Shoulder Abduction, Sitting, Baseline	10 Newton Interval 0.0 to 30.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Shoulder Abduction, Sitting, Week 6	14 Newton Interval 14.0 to 14.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Elbow Flexion, Supine, Week 6	5 Newton Interval 2.0 to 7.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Finger Pinch, Sitting, Baseline	10 Newton Interval 5.0 to 22.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Hand Grip, Sitting, Week 6	23 Newton Interval 16.0 to 29.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Left Shoulder Abduction, Sitting, Week 6	15 Newton Interval 14.0 to 15.0
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Right Shoulder Abduction, Sitting, Baseline	12 Newton Interval 0.0 to 25.0

SECONDARY outcome

Timeframe: Baseline and Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable 9HPT data.

Hand fine motor coordination and dexterity were assessed using the 9HPT using standardized procedures. The 9HPT is a unilateral test in which 9 pegs were placed in a board and then removed with the dominate and non-dominate hand within a 5-minute time limit. The amount of time required to put the pegs in the holes and remove them again with each hand was recorded. Each test was conducted twice per hand. Longer time to complete the test indicates worse hand fine motor coordination and dexterity.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Time to Complete Hand Fine Motor Coordination and Dexterity Tasks as Measured by 9-Hole Peg Test (9HPT) Dominant Hand, Baseline	37 seconds Interval 21.0 to 233.0
Time to Complete Hand Fine Motor Coordination and Dexterity Tasks as Measured by 9-Hole Peg Test (9HPT) Dominant Hand, Week 6	38 seconds Interval 34.0 to 40.0
Time to Complete Hand Fine Motor Coordination and Dexterity Tasks as Measured by 9-Hole Peg Test (9HPT) Non-Dominant Hand, Baseline	40 seconds Interval 3.0 to 51.0
Time to Complete Hand Fine Motor Coordination and Dexterity Tasks as Measured by 9-Hole Peg Test (9HPT) Non-Dominant Hand, Week 6	37 seconds Interval 35.0 to 46.0

SECONDARY outcome

Timeframe: Baseline and Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable spirometry data. Data was not collected at Week 6 as no participants were evaluable at this timepoint.

Pulmonary function was assessed as FVC in participants by spirometry using a study-specific spirometer. Multiple tests were conducted, if needed.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Forced Vital Capacity (FVC) as Measured by Spirometry Baseline	1 liters Interval 0.82 to 2.95

SECONDARY outcome

Timeframe: Week 24 and Week 48

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable echocardiography data. Since the study was terminated early, echocardiography data were not collected after the start of study drug administration.

Cardiac function was assessed by echocardiography, which included standard parameters (for example, ejection fraction, left ventricle diastolic and systolic dimensions), as well as parameters integrating Doppler flow analysis with imaging to evaluate perturbations in wall motion. A standardized data collection process harmonized data from all participating institutions and allowed for centralized review.

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: Baseline and Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable heart rate data.

Heart rate was measured with the radial pulse. Following the Jebsen test, the participant rested for 5 minutes in a sitting position, and the heart rate for the last minute of this rest period was collected as the resting heart rate.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Heart Rate as Assessed by Radial Pulse Baseline	88 beats per minute Interval 72.0 to 120.0
Heart Rate as Assessed by Radial Pulse Week 6	100 beats per minute Interval 97.0 to 102.0

SECONDARY outcome

Timeframe: Baseline and Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable verbal memory and attention data. The test was repeated until the participant had 0 correct responses, which was up to 7 times for the Forward Condition and up to 5 times for the Backward Condition at Baseline and at Week 6.

A series of digits (0-9) were presented to the participant in an auditory format only. The task had 2 parts: in the Forward Condition, the participant was requested to repeat back the digits in the order they were presented, and in the Backward Condition, he was requested to reverse the order of presentation.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Verbal Memory and Attention as Assessed by the Digit Span Task Backward Condition, 2 Correct Responses, Baseline	6 correct responses
Verbal Memory and Attention as Assessed by the Digit Span Task Backward Condition, 2 Correct Responses, Week 6	0 correct responses
Verbal Memory and Attention as Assessed by the Digit Span Task Forward Condition, 1 Correct Response, Baseline	4 correct responses
Verbal Memory and Attention as Assessed by the Digit Span Task Forward Condition, 1 Correct Response, Week 6	1 correct responses
Verbal Memory and Attention as Assessed by the Digit Span Task Forward Condition, 2 Correct Responses, Baseline	19 correct responses
Verbal Memory and Attention as Assessed by the Digit Span Task Forward Condition, 2 Correct Responses, Week 6	4 correct responses
Verbal Memory and Attention as Assessed by the Digit Span Task Backward Condition, 1 Correct Response, Baseline	4 correct responses
Verbal Memory and Attention as Assessed by the Digit Span Task Backward Condition, 1 Correct Response, Week 6	2 correct responses

SECONDARY outcome

Timeframe: Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable PedsQL Inventory Generic Core Scale data at Week 6.

Health-related quality of life (HRQL) was measured by the Pediatric Quality of Life Inventory (PedsQL) Inventory Generic Core Scale. The generic core module comprised of 23 questions evaluating physical, emotional, social, and school functioning. Examples of items in each of the generic core module scales included: "It is hard for me to run"; "I feel sad or blue"; "I cannot do things that other kids my age can do;" and "It is hard to pay attention in class." Each of the generic core module items was scored on a 5-point response scale from 0 (never a problem) to 4 (almost always a problem). The appropriate age-specific version was completed. PedsQL Inventory Generic Core Scale data at Week 6 is presented.

Outcome measures

Outcome measures
Measure	Ataluren n=2 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
HRQL as Measured by the PedsQL Inventory Generic Core Scale Participant-Reported, Feelings	1 units on a scale Interval 0.0 to 2.0
HRQL as Measured by the PedsQL Inventory Generic Core Scale Participant-Reported, Getting along with Others	2 units on a scale Interval 0.0 to 4.0
HRQL as Measured by the PedsQL Inventory Generic Core Scale Participant-Reported, School	1 units on a scale Interval 0.0 to 2.0
HRQL as Measured by the PedsQL Inventory Generic Core Scale Parent-Reported, Physical Functioning	4 units on a scale Interval 0.0 to 4.0
HRQL as Measured by the PedsQL Inventory Generic Core Scale Parent-Reported, Emotional Functioning	0 units on a scale Interval 0.0 to 2.0
HRQL as Measured by the PedsQL Inventory Generic Core Scale Parent-Reported, School Functioning	1 units on a scale Interval 0.0 to 2.0
HRQL as Measured by the PedsQL Inventory Generic Core Scale Participant-Reported, Health and Activities	4 units on a scale Interval 0.0 to 4.0
HRQL as Measured by the PedsQL Inventory Generic Core Scale Parent-Reported, Social Functioning	1 units on a scale Interval 0.0 to 4.0

SECONDARY outcome

Timeframe: Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable PedsQL Multidimensional Fatigue Scale data at Week 6.

HRQL was measured by the PedsQL Multidimensional Fatigue Scale. The fatigue-specific module comprised of 18 questions evaluating general fatigue, sleep/rest fatigue, and cognitive fatigue. Fatigue-specific module obtains information relating to items such as: "I feel too tired to do things that I like to do"; "I spend a lot of time in bed"; and "I have trouble remembering more than one thing at a time." Each of the fatigue-specific module items was scored on a 5-point response scale from 0 (never a problem) to 4 (almost always a problem). The appropriate age-specific version was completed. PedsQL Multidimensional Fatigue Scale data at Week 6 is presented.

Outcome measures

Outcome measures
Measure	Ataluren n=2 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
HRQL as Measured by the PedsQL Multidimensional Fatigue Scale Participant-Reported, General Fatigue	1 units on a scale Interval 0.0 to 3.0
HRQL as Measured by the PedsQL Multidimensional Fatigue Scale Parent-Reported, Sleep/Rest Fatigue	0 units on a scale Interval 0.0 to 2.0
HRQL as Measured by the PedsQL Multidimensional Fatigue Scale Parent-Reported, Cognitive Fatigue	1 units on a scale Interval 0.0 to 2.0
HRQL as Measured by the PedsQL Multidimensional Fatigue Scale Participant-Reported, Sleep/Rest Fatigue	1 units on a scale Interval 0.0 to 2.0
HRQL as Measured by the PedsQL Multidimensional Fatigue Scale Participant-Reported, Cognitive Fatigue	1 units on a scale Interval 0.0 to 3.0
HRQL as Measured by the PedsQL Multidimensional Fatigue Scale Parent-Reported, General Fatigue	1 units on a scale Interval 0.0 to 4.0

SECONDARY outcome

Timeframe: Week 24 and Week 48

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable INQoL data. Since the study was terminated early, INQoL data were not collected.

HRQL was measured by the Individualized Neuromuscular Quality of Life Questionnaire (INQoL). The INQoL consisted of 45 questions within 10 sections. Four of the sections evaluate key muscle disease symptoms (that is, weakness, locking \[myotonia\], pain, and fatigue), 5 sections evaluate the degree and importance of the impact of muscle disease on particular areas of life, and 1 section asks about the positive and negative effects of treatment. A higher score indicates greater symptom impact or worse HRQL, with a range of 0-7.

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: Baseline and Week 6

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable CK data. Data was not collected at Week 6 for CK Levels with the reference range of 18-363 UL as no participants were evaluable at this timepoint.

Blood samples collected for chemistry assays were used to quantify serum CK concentrations. Serum CK was assessed as a potential biomarker for muscle fragility, with a reduction in serum CK considered to be a positive outcome. The reference range was based on the age of the participant.

Outcome measures

Outcome measures
Measure	Ataluren n=6 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Muscle Fragility as Determined by Serum Creatine Kinase (CK) Levels CK Levels (Reference Range 18-198 U/L), Baseline	1217 units/liter (U/L) Interval 614.0 to 2136.0
Muscle Fragility as Determined by Serum Creatine Kinase (CK) Levels CK Levels (Reference Range 18-198 U/L), Week 6	764 units/liter (U/L) Interval 764.0 to 764.0
Muscle Fragility as Determined by Serum Creatine Kinase (CK) Levels CK Levels (Reference Range 18-363 U/L), Baseline	2605 units/liter (U/L) Interval 1413.0 to 3797.0
Muscle Fragility as Determined by Serum Creatine Kinase (CK) Levels CK Levels (Reference Range 18-408 U/L), Baseline	2343 units/liter (U/L) Interval 2343.0 to 2343.0
Muscle Fragility as Determined by Serum Creatine Kinase (CK) Levels CK Levels (Reference Range 18-408 U/L), Week 6	2753 units/liter (U/L) Interval 2753.0 to 2753.0

SECONDARY outcome

Timeframe: Week 36

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable dystrophin production data. Since the study was terminated early, gastrocnemius muscle dystrophin expression data were not collected after the start of study drug administration.

The gastrocnemius muscle was to be biopsied from 1 leg to assess for the production of dystrophin at Week 36. The production of dystrophin was to be measured by immunofluorescene staining of the sarcolemmal membrane or by Western blotting techniques with an antibody to the C-terminal portion of the dystrophin protein (excluding revertant fibers).

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: Baseline to Day 50

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable study drug compliance data.

Study drug compliance was assessed by the participant daily diary and quantification of used and unused study drug. Compliance was assessed in terms of the amount of drug actually taken relative to the amount that should have been taken during the study.

Outcome measures

Outcome measures
Measure	Ataluren n=4 Participants Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Study Drug Compliance Missed 0 Doses	1 Participants
Study Drug Compliance Missed 1 Dose	2 Participants
Study Drug Compliance Missed 2 Doses	0 Participants
Study Drug Compliance Missed 3 Doses	0 Participants
Study Drug Compliance Missed 4 Doses	1 Participants
Study Drug Compliance Missed >5 Doses	0 Participants

SECONDARY outcome

Timeframe: 0, 2, 3, 6, 8, 9, 12, 14, 15, and 24 hours after the morning dose

Population: All enrolled participants who received at least 1 dose of study drug and with evaluable plasma data. Since the study was terminated early, steady state data were not collected at Week 6.

Blood for ataluren concentrations over a 24-hour period was to be collected on Days 2 and 3 of Week 6. Analysis of the blood samples was to be conducted using a validated high performance liquid chromatography with tandem mass spectrometry (HPLC-MS/MS) method.

Outcome measures

Outcome data not reported

Adverse Events

Ataluren

Serious events: 0 serious events

Other events: 1 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure	Ataluren n=6 participants at risk Ataluren was provided as a vanilla-flavored powder to be mixed with water, apple juice, or milk. Study drug dosing was based on milligrams of drug per kilogram of body weight. The dose level for ataluren was 20 mg/kg in the morning, 20 mg/kg at midday, and 40 mg/kg in the evening. Administration within 30 minutes after a meal was recommended. Study drug was taken for up to 50 days.
Gastrointestinal disorders Diarrhoea	16.7% 1/6 • Baseline up to Day 50
Infections and infestations Nasopharyngitis	16.7% 1/6 • Baseline up to Day 50
Renal and urinary disorders Dysuria	16.7% 1/6 • Baseline up to Day 50

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