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NCT01009294

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

Terminated Phase 2 Results posted Last updated 29 July 2020
What this trial tests

Phase 2 trial testing Ataluren in Duchenne Muscular Dystrophy in 6 participants. Terminated before completion.

Timeline
13 January 2010
Primary endpoint
23 March 2010
23 March 2010

Quick facts

Lead sponsorPTC Therapeutics
PhasePhase 2
StatusTerminated
Study typeINTERVENTIONAL
Allocationna
Designsingle group
Maskingnone
Primary purposetreatment
Enrollment6
Start date13 January 2010
Primary completion23 March 2010
Estimated completion23 March 2010
Sites6 locations across United Kingdom, United States

Drugs / interventions tested

Conditions studied

Sponsor

PTC Therapeutics — full company profile →

Who can join

7 and older, male only, with Duchenne Muscular Dystrophy or Becker Muscular Dystrophy. Patients with the condition only — healthy volunteers not accepted.

Results — posted to ClinicalTrials.gov

Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.

Number of Participants With Treatment Emergent Adverse Events (TEAEs) Primary · Baseline up to Day 50

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 SA

TEAEs
GroupValue95% CI
Ataluren1
Treatment Emergent SAEs
GroupValue95% CI
Ataluren0
AEs Related to Study Treatment
GroupValue95% CI
Ataluren0
Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test Secondary · Baseline and Week 6

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.

Lifting Large Heavy Objects, DOM Hand, Baseline
GroupValue95% CI
Ataluren115 – 120
Lifting Large Heavy Objects, DOM Hand, Week 6
GroupValue95% CI
Ataluren109 – 11
Lifting Large Heavy Objects, Non-DOM Hand Baseline
GroupValue95% CI
Ataluren115 – 120
Lifting Large Heavy Objects, Non-DOM Hand, Week 6
GroupValue95% CI
Ataluren117 – 14
Lifting Large Light Objects, DOM Hand, Baseline
GroupValue95% CI
Ataluren94 – 120
Lifting Large Light Objects, DOM Hand, Week 6
GroupValue95% CI
Ataluren157 – 22
Lifting Large Light Objects, Non-DOM Hand Baseline
GroupValue95% CI
Ataluren73 – 120
Lifting Large Light Objects, Non-DOM Hand, Week 6
GroupValue95% CI
Ataluren126 – 18
Upper Limb Function as Measured by the Brooke Upper Extremity Functional Rating Scale Secondary · Baseline and Week 6

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.

Baseline
GroupValue95% CI
Ataluren32 – 5
Week 6
GroupValue95% CI
Ataluren33 – 3
Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale Secondary · Baseline and Week 6

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 s

Ability to Use Wheelchair, Baseline
GroupValue95% CI
Ataluren22 – 3
Ability to Use Wheelchair, Week 6
GroupValue95% CI
Ataluren10 – 2
Ability to Transfer From Wheelchair, Baseline
GroupValue95% CI
Ataluren22 – 3
Ability to Transfer From Wheelchair, Week 6
GroupValue95% CI
Ataluren22 – 2
Ability to Stand, Baseline
GroupValue95% CI
Ataluren31 – 3
Ability to Stand, Week 6
GroupValue95% CI
Ataluren21 – 3
Ability to Balance in the Wheelchair, Baseline
GroupValue95% CI
Ataluren00 – 3
Ability to Balance in the Wheelchair, Week 6
GroupValue95% CI
Ataluren00 – 0
Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry Secondary · Baseline and Week 6

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.

L Elbow Extension, Supine Passive RoM, Baseline
GroupValue95% CI
Ataluren-10-20 – 0
L Elbow Extension, Supine Passive RoM, Week 6
GroupValue95% CI
Ataluren-15-15 – -15
R Elbow Extension, Supine Passive RoM. Baseline
GroupValue95% CI
Ataluren-13-25 – 0
R Elbow Extension, Supine Passive RoM, Week 6
GroupValue95% CI
Ataluren-20-20 – -20
L Elbow Flexion, Sitting Active RoM, Baseline
GroupValue95% CI
Ataluren1150 – 140
L Elbow Flexion, Sitting Active RoM, Week 6
GroupValue95% CI
Ataluren-10-20 – 0
R Elbow Flexion, Sitting Active RoM, Baseline
GroupValue95% CI
Ataluren1200 – 140
R Elbow Flexion, Sitting Active RoM, Week 6
GroupValue95% CI
Ataluren700 – 140
Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry Secondary · Baseline and Week 6

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.

Left Elbow Extension, Supine, Baseline
GroupValue95% CI
Ataluren122 – 26
Left Elbow Extension, Supine, Week 6
GroupValue95% CI
Ataluren1614 – 18
Right Elbow Extension, Supine, Baseline
GroupValue95% CI
Ataluren121 – 26
Right Elbow Extension, Supine, Week 6
GroupValue95% CI
Ataluren1513 – 16
Left Elbow Flexion, Supine, Baseline
GroupValue95% CI
Ataluren71 – 20
Left Elbow Flexion, Supine, Week 6
GroupValue95% CI
Ataluren52 – 7
Right Elbow Flexion, Supine, Baseline
GroupValue95% CI
Ataluren70 – 23
Right Elbow Flexion, Supine, Week 6
GroupValue95% CI
Ataluren93 – 14
Time to Complete Hand Fine Motor Coordination and Dexterity Tasks as Measured by 9-Hole Peg Test (9HPT) Secondary · Baseline and Week 6

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.

Dominant Hand, Baseline
GroupValue95% CI
Ataluren3721 – 233
Dominant Hand, Week 6
GroupValue95% CI
Ataluren3834 – 40
Non-Dominant Hand, Baseline
GroupValue95% CI
Ataluren403 – 51
Non-Dominant Hand, Week 6
GroupValue95% CI
Ataluren3735 – 46
Forced Vital Capacity (FVC) as Measured by Spirometry Secondary · Baseline and Week 6

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

Baseline
GroupValue95% CI
Ataluren10.82 – 2.95
Heart Rate as Assessed by Radial Pulse Secondary · Baseline and Week 6

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.

Baseline
GroupValue95% CI
Ataluren8872 – 120
Week 6
GroupValue95% CI
Ataluren10097 – 102
Verbal Memory and Attention as Assessed by the Digit Span Task Secondary · Baseline and 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.

Forward Condition, 1 Correct Response, Baseline
GroupValue95% CI
Ataluren4
Forward Condition, 1 Correct Response, Week 6
GroupValue95% CI
Ataluren1
Forward Condition, 2 Correct Responses, Baseline
GroupValue95% CI
Ataluren19
Forward Condition, 2 Correct Responses, Week 6
GroupValue95% CI
Ataluren4
Backward Condition, 1 Correct Response, Baseline
GroupValue95% CI
Ataluren4
Backward Condition, 1 Correct Response, Week 6
GroupValue95% CI
Ataluren2
Backward Condition, 2 Correct Responses, Baseline
GroupValue95% CI
Ataluren6
Backward Condition, 2 Correct Responses, Week 6
GroupValue95% CI
Ataluren0
HRQL as Measured by the PedsQL Inventory Generic Core Scale Secondary · 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

Participant-Reported, Health and Activities
GroupValue95% CI
Ataluren40 – 4
Participant-Reported, Feelings
GroupValue95% CI
Ataluren10 – 2
Participant-Reported, Getting along with Others
GroupValue95% CI
Ataluren20 – 4
Participant-Reported, School
GroupValue95% CI
Ataluren10 – 2
Parent-Reported, Physical Functioning
GroupValue95% CI
Ataluren40 – 4
Parent-Reported, Emotional Functioning
GroupValue95% CI
Ataluren00 – 2
Parent-Reported, Social Functioning
GroupValue95% CI
Ataluren10 – 4
Parent-Reported, School Functioning
GroupValue95% CI
Ataluren10 – 2
HRQL as Measured by the PedsQL Multidimensional Fatigue Scale Secondary · 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. Ped

Participant-Reported, General Fatigue
GroupValue95% CI
Ataluren10 – 3
Participant-Reported, Sleep/Rest Fatigue
GroupValue95% CI
Ataluren10 – 2
Participant-Reported, Cognitive Fatigue
GroupValue95% CI
Ataluren10 – 3
Parent-Reported, General Fatigue
GroupValue95% CI
Ataluren10 – 4
Parent-Reported, Sleep/Rest Fatigue
GroupValue95% CI
Ataluren00 – 2
Parent-Reported, Cognitive Fatigue
GroupValue95% CI
Ataluren10 – 2

Adverse events — posted to ClinicalTrials.gov

Time frame: Baseline up to Day 50. Reporting threshold: 0%. Adverse-event reports describe events observed during the trial — not all are caused by the drug.

Ataluren
Serious: 0/6 (0%)
Deaths: —
Other adverse events (3 terms — click to expand)

ReactionSystemAtaluren
DiarrhoeaGastrointestinal disorders—
NasopharyngitisInfections and infestations—
DysuriaRenal and urinary disorders—

Data from ClinicalTrials.gov NCT01009294 adverse events section.

Sponsor's own description

Duchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2a trial that enrolled boys with nonsense mutation DMD/BMD who have lost independent mobility due to the disease. This study evaluated the safety and tolerability of ataluren (PTC124) and also evaluated efficacy outcomes in this participant population.

Publications & conference data

7 peer-reviewed publications reference this trial (live from Europe PMC):

  1. Nonsense suppression therapies in human genetic diseases.
    Martins-Dias P, Romão L. · · 2021 · cited 70× · PMID 33751142 · DOI 10.1007/s00018-021-03809-7
  2. Assessment and management of respiratory function in patients with Duchenne muscular dystrophy: current and emerging options.
    LoMauro A, D'Angelo MG, Aliverti A. · · 2015 · cited 67× · PMID 26451113 · DOI 10.2147/tcrm.s55889
  3. A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment.
    Le Moing AG, Seferian AM, Moraux A, Annoussamy M, et al · · 2016 · cited 43× · PMID 27271157 · DOI 10.1371/journal.pone.0156696
  4. Non-Invasive Respiratory Assessment in Duchenne Muscular Dystrophy: From Clinical Research to Outcome Measures.
    Pennati F, LoMauro A, D'Angelo MG, Aliverti A. · · 2021 · cited 14× · PMID 34575096 · DOI 10.3390/life11090947
  5. Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases.
    Chiu W, Hsun YH, Chang KJ, Yarmishyn AA, et al · · 2020 · cited 10× · PMID 33339321 · DOI 10.3390/ijms21249589
  6. Functional trajectories before and after loss of ambulation in Duchenne muscular dystrophy and implications for clinical trials.
    McDonald CM, Signorovitch J, Mercuri E, Niks EH, et al · · 2024 · cited 4× · PMID 38829874 · DOI 10.1371/journal.pone.0304099
  7. Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents.
    Wilton SD, Fletcher S. · · 2011 · cited 1× · PMID 23776365 · DOI 10.2147/tacg.s8762

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Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT01009294.

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