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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01009294
Recruitment Status : Terminated (Terminated early because a similar study with Ataluren exhibited lack of efficacy at the high dose (not due to safety concerns).)
First Posted : November 6, 2009
Results First Posted : July 29, 2020
Last Update Posted : July 29, 2020
Sponsor:
Collaborator:
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
PTC Therapeutics

Study Type Interventional
Study Design Allocation: N/A;   Intervention Model: Single Group Assignment;   Masking: None (Open Label);   Primary Purpose: Treatment
Conditions Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Interventions Drug: Ataluren
Drug: Chronic Corticosteroid Therapy
Enrollment 6
Recruitment Details 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.
Pre-assignment Details 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.
Arm/Group Title Ataluren
Hide Arm/Group Description 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.
Period Title: Overall Study
Started 6
Received at Least 1 Dose of Study Drug 6
Completed 0
Not Completed 6
Reason Not Completed
Study discontinued by Sponsor             6
Arm/Group Title Ataluren
Hide Arm/Group Description 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.
Overall Number of Baseline Participants 6
Hide Baseline Analysis Population Description
All enrolled participants who received at least 1 dose of study drug.
Age, Customized  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 6 participants
12 to 17 years
3
  50.0%
18 to 20 years
3
  50.0%
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 6 participants
Female
0
   0.0%
Male
6
 100.0%
1.Primary Outcome
Title Number of Participants With Treatment Emergent Adverse Events (TEAEs)
Hide Description 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.
Time Frame Baseline up to Day 50
Hide Outcome Measure Data
Hide Analysis Population Description
All enrolled participants who received at least 1 dose of study drug.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 6
Measure Type: Count of Participants
Unit of Measure: Participants
TEAEs
1
  16.7%
Treatment Emergent SAEs
0
   0.0%
AEs Related to Study Treatment
0
   0.0%
2.Secondary Outcome
Title Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test
Hide Description 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.
Time Frame Baseline and Week 6
Hide Outcome Measure Data
Hide Analysis Population Description
All enrolled participants who received at least 1 dose of study drug and with evaluable upper limb function tasks data.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 6
Median (Full Range)
Unit of Measure: seconds
Lifting Large Heavy Objects, DOM Hand, Baseline Number Analyzed 6 participants
11
(5 to 120)
Lifting Large Heavy Objects, DOM Hand, Week 6 Number Analyzed 2 participants
10
(9 to 11)
Lifting Large Heavy Objects, Non-DOM Hand Baseline Number Analyzed 6 participants
11
(5 to 120)
Lifting Large Heavy Objects, Non-DOM Hand, Week 6 Number Analyzed 2 participants
11
(7 to 14)
Lifting Large Light Objects, DOM Hand, Baseline Number Analyzed 6 participants
9
(4 to 120)
Lifting Large Light Objects, DOM Hand, Week 6 Number Analyzed 2 participants
15
(7 to 22)
Lifting Large Light Objects, Non-DOM Hand Baseline Number Analyzed 6 participants
7
(3 to 120)
Lifting Large Light Objects, Non-DOM Hand, Week 6 Number Analyzed 2 participants
12
(6 to 18)
Stacking Large Heavy Objects, DOM Hand, Baseline Number Analyzed 6 participants
118
(10 to 120)
Stacking Large Heavy Objects, DOM Hand, Week 6 Number Analyzed 2 participants
45
(27 to 63)
Stacking Large Heavy Objects Non-DOM Hand Baseline Number Analyzed 6 participants
120
(28 to 120)
Stacking Large Heavy Objects, Non-DOM Hand, Week 6 Number Analyzed 2 participants
92
(63 to 120)
Stacking Large Light Objects, DOM Hand, Baseline Number Analyzed 6 participants
69
(5 to 120)
Stacking Large Light Objects, DOM Hand, Week 6 Number Analyzed 2 participants
32
(22 to 42)
Stacking Large Light Objects Non-DOM Hand Baseline Number Analyzed 6 participants
23
(8 to 120)
Stacking Large Light Objects, Non-DOM Hand, Week 6 Number Analyzed 2 participants
69
(18 to 120)
Lifting Small Common Objects, DOM Hand, Baseline Number Analyzed 6 participants
16
(7 to 120)
Lifting Small Common Objects, DOM Hand, Week 6 Number Analyzed 2 participants
19
(18 to 19)
Lifting Small Common Objects Non-DOM Hand Baseline Number Analyzed 6 participants
13
(8 to 120)
Lifting Small Common Objects, Non-DOM Hand, Week 6 Number Analyzed 2 participants
15
(12 to 17)
Stacking Checkers, DOM Hand, Baseline Number Analyzed 6 participants
7
(4 to 11)
Stacking Checkers, DOM Hand, Week 6 Number Analyzed 2 participants
7
(6 to 7)
Simulated Feeding, DOM Hand, Baseline Number Analyzed 6 participants
22
(9 to 120)
Simulated Feeding, DOM Hand, Week 6 Number Analyzed 2 participants
40
(15 to 64)
Simulated Feeding, Non-DOM Hand, Baseline Number Analyzed 6 participants
38
(12 to 120)
Simulated Feeding, Non-DOM Hand, Week 6 Number Analyzed 2 participants
34
(20 to 47)
Simulated Page Turning, DOM Hand, Baseline Number Analyzed 6 participants
12
(4 to 24)
Simulated Page Turning, DOM Hand, Week 6 Number Analyzed 2 participants
15
(9 to 21)
Simulated Page Turning, Non-DOM Hand, Baseline Number Analyzed 6 participants
13
(4 to 51)
Simulated Page Turning, Non-DOM Hand, Week 6 Number Analyzed 2 participants
12
(6 to 18)
Writing, DOM Hand, Baseline Number Analyzed 6 participants
22
(11 to 120)
Writing, DOM Hand, Week 6 Number Analyzed 2 participants
66
(11 to 120)
Writing, Non-DOM Hand, Baseline Number Analyzed 6 participants
47
(25 to 120)
Writing, Non-DOM Hand, Week 6 Number Analyzed 2 participants
78
(36 to 120)
3.Secondary Outcome
Title Upper Limb Function as Measured by the Brooke Upper Extremity Functional Rating Scale
Hide Description 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.
Time Frame Baseline and Week 6
Hide Outcome Measure Data
Hide Analysis Population Description
All enrolled participants who received at least 1 dose of study drug and with evaluable upper limb function tasks data.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 6
Median (Full Range)
Unit of Measure: score on a scale
Baseline Number Analyzed 6 participants
3
(2 to 5)
Week 6 Number Analyzed 2 participants
3
(3 to 3)
4.Secondary Outcome
Title Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale
Hide Description 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.
Time Frame Baseline and Week 6
Hide Outcome Measure Data
Hide Analysis Population Description
All enrolled participants who received at least 1 dose of study drug and with evaluable EK Scale data.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 6
Median (Full Range)
Unit of Measure: score on a scale
Ability to Use Wheelchair, Baseline Number Analyzed 6 participants
2
(2 to 3)
Ability to Use Wheelchair, Week 6 Number Analyzed 2 participants
1
(0 to 2)
Ability to Transfer From Wheelchair, Baseline Number Analyzed 6 participants
2
(2 to 3)
Ability to Transfer From Wheelchair, Week 6 Number Analyzed 2 participants
2
(2 to 2)
Ability to Stand, Baseline Number Analyzed 6 participants
3
(1 to 3)
Ability to Stand, Week 6 Number Analyzed 2 participants
2
(1 to 3)
Ability to Balance in the Wheelchair, Baseline Number Analyzed 6 participants
0
(0 to 3)
Ability to Balance in the Wheelchair, Week 6 Number Analyzed 2 participants
0
(0 to 0)
Ability to Move Arms, Baseline Number Analyzed 6 participants
2
(0 to 3)
Ability to Move Arms, Week 6 Number Analyzed 2 participants
1
(1 to 1)
Ability to Use Hands/Arms When Eating, Baseline Number Analyzed 6 participants
2
(1 to 3)
Ability to Use Hands/Arms When Eating, Week 6 Number Analyzed 2 participants
2
(1 to 2)
Ability to Turn in Bed, Baseline Number Analyzed 6 participants
1
(0 to 3)
Ability to Turn in Bed, Week 6 Number Analyzed 2 participants
1
(0 to 1)
Ability to Cough, Baseline Number Analyzed 6 participants
0
(0 to 0)
Ability to Cough, Week 6 Number Analyzed 2 participants
0
(0 to 0)
Ability to Speak, Baseline Number Analyzed 6 participants
0
(0 to 0)
Ability to Speak, Week 6 Number Analyzed 2 participants
0
(0 to 0)
Physical Well-Being, Baseline Number Analyzed 6 participants
0
(0 to 0)
Physical Well-Being, Week 6 Number Analyzed 2 participants
1
(0 to 1)
5.Secondary Outcome
Title Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry
Hide Description 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.
Time Frame Baseline and Week 6
Hide Outcome Measure Data
Hide Analysis Population Description
All enrolled participants who received at least 1 dose of study drug and with evaluable range of motion data.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 6
Median (Full Range)
Unit of Measure: degrees
L Elbow Extension, Supine Passive RoM, Baseline Number Analyzed 2 participants
-10
(-20 to 0)
L Elbow Extension, Supine Passive RoM, Week 6 Number Analyzed 1 participants
-15
(-15 to -15)
R Elbow Extension, Supine Passive RoM. Baseline Number Analyzed 2 participants
-13
(-25 to 0)
R Elbow Extension, Supine Passive RoM, Week 6 Number Analyzed 1 participants
-20
(-20 to -20)
L Elbow Flexion, Sitting Active RoM, Baseline Number Analyzed 6 participants
115
(0 to 140)
L Elbow Flexion, Sitting Active RoM, Week 6 Number Analyzed 2 participants
-10
(-20 to 0)
R Elbow Flexion, Sitting Active RoM, Baseline Number Analyzed 6 participants
120
(0 to 140)
R Elbow Flexion, Sitting Active RoM, Week 6 Number Analyzed 2 participants
70
(0 to 140)
L Elbow Flexion, Supine Passive RoM, Baseline Number Analyzed 6 participants
133
(120 to 140)
L Elbow Flexion, Supine Passive RoM, Week 6 Number Analyzed 2 participants
138
(130 to 145)
R Elbow Flexion, Supine Passive RoM, Baseline Number Analyzed 6 participants
135
(110 to 140)
R Elbow Flexion, Supine Passive RoM, Week 6 Number Analyzed 2 participants
135
(125 to 145)
L Shoulder Abduction, Sitting Active RoM, Baseline Number Analyzed 6 participants
18
(0 to 55)
L Shoulder Abduction, Sitting Active RoM, Week 6 Number Analyzed 2 participants
0
(0 to 0)
R Shoulder Abduction, Sitting Active RoM, Baseline Number Analyzed 6 participants
20
(0 to 70)
R Shoulder Abduction, Sitting Active RoM, Week 6 Number Analyzed 6 participants
5
(0 to 10)
L Shoulder Abduction, Supine Passive RoM, Baseline Number Analyzed 6 participants
170
(105 to 180)
L Shoulder Abduction, Supine Passive RoM, Week 6 Number Analyzed 2 participants
175
(170 to 180)
R Shoulder Abduction, Supine Passive RoM, Baseline Number Analyzed 6 participants
180
(120 to 180)
R Shoulder Abduction, Supine Passive RoM, Week 6 Number Analyzed 2 participants
175
(170 to 180)
L Shoulder Flexion, Sitting Active RoM, Baseline Number Analyzed 6 participants
10
(0 to 45)
L Shoulder Flexion, Sitting Active RoM, Week 6 Number Analyzed 2 participants
10
(0 to 20)
R Shoulder Flexion, Sitting Active RoM, Baseline Number Analyzed 6 participants
10
(0 to 80)
R Shoulder Flexion, Sitting Active RoM, Week 6 Number Analyzed 2 participants
0
(0 to 0)
L Shoulder Flexion, Supine Passive RoM, Baseline Number Analyzed 6 participants
165
(160 to 180)
L Shoulder Flexion, Supine Passive RoM, Week 6 Number Analyzed 2 participants
170
(160 to 180)
R Shoulder Flexion, Supine Passive RoM, Baseline Number Analyzed 6 participants
170
(150 to 180)
R Shoulder Flexion, Supine Passive RoM, Week 6 Number Analyzed 2 participants
175
(170 to 180)
L Wrist Extension, Sitting Active RoM, Baseline Number Analyzed 6 participants
68
(20 to 80)
L Wrist Extension, Sitting Active RoM, Week 6 Number Analyzed 2 participants
63
(55 to 70)
R Wrist Extension, Sitting Active RoM, Baseline Number Analyzed 6 participants
65
(30 to 90)
R Wrist Extension, Sitting Active RoM, Week 6 Number Analyzed 2 participants
73
(70 to 75)
L Wrist Extension, Sitting Passive RoM, Baseline Number Analyzed 6 participants
73
(40 to 100)
L Wrist Extension, Sitting Passive RoM, Week 6 Number Analyzed 2 participants
73
(60 to 85)
R Wrist Extension, Sitting Passive RoM, Baseline Number Analyzed 6 participants
78
(55 to 90)
R Wrist Extension, Sitting Passive RoM, Week 6 Number Analyzed 2 participants
78
(70 to 85)
L Wrist Flexion, Sitting Passive RoM, Baseline Number Analyzed 6 participants
75
(35 to 95)
L Wrist Flexion, Sitting Passive RoM, Week 6 Number Analyzed 2 participants
75
(60 to 90)
R Wrist Flexion, Sitting Passive RoM, Baseline Number Analyzed 6 participants
80
(35 to 90)
R Wrist Flexion, Sitting Passive RoM, Week 6 Number Analyzed 2 participants
68
(45 to 90)
6.Secondary Outcome
Title Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry
Hide Description 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.
Time Frame Baseline and Week 6
Hide Outcome Measure Data
Hide Analysis Population Description
All enrolled participants who received at least 1 dose of study drug and with evaluable upper extremity myometry data.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 6
Median (Full Range)
Unit of Measure: Newton
Left Elbow Extension, Supine, Baseline Number Analyzed 6 participants
12
(2 to 26)
Left Elbow Extension, Supine, Week 6 Number Analyzed 2 participants
16
(14 to 18)
Right Elbow Extension, Supine, Baseline Number Analyzed 6 participants
12
(1 to 26)
Right Elbow Extension, Supine, Week 6 Number Analyzed 2 participants
15
(13 to 16)
Left Elbow Flexion, Supine, Baseline Number Analyzed 6 participants
7
(1 to 20)
Left Elbow Flexion, Supine, Week 6 Number Analyzed 2 participants
5
(2 to 7)
Right Elbow Flexion, Supine, Baseline Number Analyzed 6 participants
7
(0 to 23)
Right Elbow Flexion, Supine, Week 6 Number Analyzed 2 participants
9
(3 to 14)
Left Finger Pinch, Sitting, Baseline Number Analyzed 6 participants
10
(3 to 20)
Left Finger Pinch, Sitting, Week 6 Number Analyzed 2 participants
6
(2 to 9)
Right Finger Pinch, Sitting, Baseline Number Analyzed 6 participants
10
(5 to 22)
Right Finger Pinch, Sitting, Week 6 Number Analyzed 2 participants
7
(5 to 8)
Left Hand Grip, Sitting, Baseline Number Analyzed 6 participants
13
(5 to 23)
Left Hand Grip, Sitting, Week 6 Number Analyzed 2 participants
13
(5 to 20)
Right Hand Grip, Sitting, Baseline Number Analyzed 6 participants
15
(7 to 34)
Right Hand Grip, Sitting, Week 6 Number Analyzed 2 participants
23
(16 to 29)
Left Key Grip, Sitting, Baseline Number Analyzed 6 participants
13
(5 to 27)
Left Key Grip, Sitting, Week 6 Number Analyzed 2 participants
15
(8 to 22)
Right Key Grip, Sitting, Baseline Number Analyzed 6 participants
11
(5 to 24)
Right Key Grip, Sitting, Week 6 Number Analyzed 2 participants
18
(6 to 30)
Left Shoulder Abduction, Sitting, Baseline Number Analyzed 6 participants
10
(0 to 30)
Left Shoulder Abduction, Sitting, Week 6 Number Analyzed 2 participants
15
(14 to 15)
Right Shoulder Abduction, Sitting, Baseline Number Analyzed 6 participants
12
(0 to 25)
Right Shoulder Abduction, Sitting, Week 6 Number Analyzed 2 participants
14
(14 to 14)
7.Secondary Outcome
Title Time to Complete Hand Fine Motor Coordination and Dexterity Tasks as Measured by 9-Hole Peg Test (9HPT)
Hide Description 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.
Time Frame Baseline and Week 6
Hide Outcome Measure Data
Hide Analysis Population Description
All enrolled participants who received at least 1 dose of study drug and with evaluable 9HPT data.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 6
Median (Full Range)
Unit of Measure: seconds
Dominant Hand, Baseline Number Analyzed 6 participants
37
(21 to 233)
Dominant Hand, Week 6 Number Analyzed 2 participants
38
(34 to 40)
Non-Dominant Hand, Baseline Number Analyzed 6 participants
40
(3 to 51)
Non-Dominant Hand, Week 6 Number Analyzed 2 participants
37
(35 to 46)
8.Secondary Outcome
Title Forced Vital Capacity (FVC) as Measured by Spirometry
Hide Description Pulmonary function was assessed as FVC in participants by spirometry using a study-specific spirometer. Multiple tests were conducted, if needed.
Time Frame Baseline and Week 6
Hide Outcome Measure Data
Hide Analysis Population Description
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.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 6
Median (Full Range)
Unit of Measure: liters
Baseline Number Analyzed 6 participants
1
(0.82 to 2.95)
Week 6 Number Analyzed 0 participants
9.Secondary Outcome
Title Systolic and Diastolic Function as Measured by Echocardiography With Tissue Doppler
Hide Description 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.
Time Frame Week 24 and Week 48
Hide Outcome Measure Data
Hide Analysis Population Description
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.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 0
No data displayed because Outcome Measure has zero total analyzed.
10.Secondary Outcome
Title Heart Rate as Assessed by Radial Pulse
Hide Description 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.
Time Frame Baseline and Week 6
Hide Outcome Measure Data
Hide Analysis Population Description
All enrolled participants who received at least 1 dose of study drug and with evaluable heart rate data.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 6
Median (Full Range)
Unit of Measure: beats per minute
Baseline Number Analyzed 6 participants
88
(72 to 120)
Week 6 Number Analyzed 2 participants
100
(97 to 102)
11.Secondary Outcome
Title Verbal Memory and Attention as Assessed by the Digit Span Task
Hide Description 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.
Time Frame Baseline and Week 6
Hide Outcome Measure Data
Hide Analysis Population Description
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.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 6
Measure Type: Number
Unit of Measure: correct responses
Forward Condition, 1 Correct Response, Baseline Number Analyzed 6 participants
4
Forward Condition, 1 Correct Response, Week 6 Number Analyzed 2 participants
1
Forward Condition, 2 Correct Responses, Baseline Number Analyzed 6 participants
19
Forward Condition, 2 Correct Responses, Week 6 Number Analyzed 2 participants
4
Backward Condition, 1 Correct Response, Baseline Number Analyzed 6 participants
4
Backward Condition, 1 Correct Response, Week 6 Number Analyzed 2 participants
2
Backward Condition, 2 Correct Responses, Baseline Number Analyzed 6 participants
6
Backward Condition, 2 Correct Responses, Week 6 Number Analyzed 2 participants
0
12.Secondary Outcome
Title HRQL as Measured by the PedsQL Inventory Generic Core Scale
Hide Description 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.
Time Frame Week 6
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Hide Analysis Population Description
All enrolled participants who received at least 1 dose of study drug and with evaluable PedsQL Inventory Generic Core Scale data at Week 6.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 2
Median (Full Range)
Unit of Measure: units on a scale
Participant-Reported, Health and Activities
4
(0 to 4)
Participant-Reported, Feelings
1
(0 to 2)
Participant-Reported, Getting along with Others
2
(0 to 4)
Participant-Reported, School
1
(0 to 2)
Parent-Reported, Physical Functioning
4
(0 to 4)
Parent-Reported, Emotional Functioning
0
(0 to 2)
Parent-Reported, Social Functioning
1
(0 to 4)
Parent-Reported, School Functioning
1
(0 to 2)
13.Secondary Outcome
Title HRQL as Measured by the PedsQL Multidimensional Fatigue Scale
Hide Description 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.
Time Frame Week 6
Hide Outcome Measure Data
Hide Analysis Population Description
All enrolled participants who received at least 1 dose of study drug and with evaluable PedsQL Multidimensional Fatigue Scale data at Week 6.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 2
Median (Full Range)
Unit of Measure: units on a scale
Participant-Reported, General Fatigue
1
(0 to 3)
Participant-Reported, Sleep/Rest Fatigue
1
(0 to 2)
Participant-Reported, Cognitive Fatigue
1
(0 to 3)
Parent-Reported, General Fatigue
1
(0 to 4)
Parent-Reported, Sleep/Rest Fatigue
0
(0 to 2)
Parent-Reported, Cognitive Fatigue
1
(0 to 2)
14.Secondary Outcome
Title HRQL as Measured by the INQoL
Hide Description 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.
Time Frame Week 24 and Week 48
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Hide Analysis Population Description
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.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 0
No data displayed because Outcome Measure has zero total analyzed.
15.Secondary Outcome
Title Muscle Fragility as Determined by Serum Creatine Kinase (CK) Levels
Hide Description 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.
Time Frame Baseline and Week 6
Hide Outcome Measure Data
Hide Analysis Population Description
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.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 6
Median (Full Range)
Unit of Measure: units/liter (U/L)
CK Levels (Reference Range 18-198 U/L), Baseline Number Analyzed 3 participants
1217
(614 to 2136)
CK Levels (Reference Range 18-198 U/L), Week 6 Number Analyzed 1 participants
764
(764 to 764)
CK Levels (Reference Range 18-363 U/L), Baseline Number Analyzed 2 participants
2605
(1413 to 3797)
CK Levels (Reference Range 18-363 U/L), Week 6 Number Analyzed 0 participants
CK Levels (Reference Range 18-408 U/L), Baseline Number Analyzed 1 participants
2343
(2343 to 2343)
CK Levels (Reference Range 18-408 U/L), Week 6 Number Analyzed 1 participants
2753
(2753 to 2753)
16.Secondary Outcome
Title Gastrocnemius Muscle Dystrophin Expression as Determined by Immunofluoresence or by Western Blotting Techniques
Hide Description 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).
Time Frame Week 36
Hide Outcome Measure Data
Hide Analysis Population Description
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.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 0
No data displayed because Outcome Measure has zero total analyzed.
17.Secondary Outcome
Title Study Drug Compliance
Hide Description 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.
Time Frame Baseline to Day 50
Hide Outcome Measure Data
Hide Analysis Population Description
All enrolled participants who received at least 1 dose of study drug and with evaluable study drug compliance data.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 4
Measure Type: Count of Participants
Unit of Measure: Participants
Missed 0 Doses
1
  25.0%
Missed 1 Dose
2
  50.0%
Missed 2 Doses
0
   0.0%
Missed 3 Doses
0
   0.0%
Missed 4 Doses
1
  25.0%
Missed >5 Doses
0
   0.0%
18.Secondary Outcome
Title Pharmacokinetics: Ataluren Plasma Exposure
Hide Description 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.
Time Frame 0, 2, 3, 6, 8, 9, 12, 14, 15, and 24 hours after the morning dose
Hide Outcome Measure Data
Hide Analysis Population Description
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.
Arm/Group Title Ataluren
Hide Arm/Group Description:
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.
Overall Number of Participants Analyzed 0
No data displayed because Outcome Measure has zero total analyzed.
Time Frame Baseline up to Day 50
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title Ataluren
Hide Arm/Group Description 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.
All-Cause Mortality
Ataluren
Affected / at Risk (%)
Total   --/-- 
Hide Serious Adverse Events
Ataluren
Affected / at Risk (%)
Total   0/6 (0.00%) 
Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
Ataluren
Affected / at Risk (%)
Total   1/6 (16.67%) 
Gastrointestinal disorders   
Diarrhoea  1  1/6 (16.67%) 
Infections and infestations   
Nasopharyngitis  1  1/6 (16.67%) 
Renal and urinary disorders   
Dysuria  1  1/6 (16.67%) 
Indicates events were collected by systematic assessment
1
Term from vocabulary, 11.1
Certain Agreements
Principal Investigators are NOT employed by the organization sponsoring the study.
There IS an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
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.
Results Point of Contact
Layout table for Results Point of Contact information
Name/Title: Patient Advocacy
Organization: PTC Therapeutics, Inc.
Phone: 1-866-562-4620
EMail: medinfo@ptcbio.com
Layout table for additonal information
Responsible Party: PTC Therapeutics
ClinicalTrials.gov Identifier: NCT01009294    
Other Study ID Numbers: PTC124-GD-008-DMD
2009-013169-24 ( EudraCT Number )
First Submitted: November 5, 2009
First Posted: November 6, 2009
Results First Submitted: June 25, 2020
Results First Posted: July 29, 2020
Last Update Posted: July 29, 2020