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An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy

Primary Purpose

Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic

Status
Terminated
Phase
Phase 3
Locations
International
Study Type
Interventional
Intervention
Ataluren
Sponsored by
PTC Therapeutics
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Muscular Dystrophy, Duchenne focused on measuring Duchenne muscular dystrophy, Dystrophinopathy, Nonsense mutation, Premature stop codon, Becker muscular dystrophy, DMD/BMD, PTC124, Ataluren

Eligibility Criteria

7 Years - 15 Years (Child)MaleDoes not accept healthy volunteers

Inclusion Criteria:

  • Completion of study treatment in the previous Phase 3, double-blind study (PTC124-GD-020-DMD).
  • Evidence of signed and dated informed consent/assent document(s) indicating that the participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial. Note: If the study candidate is considered a child under local regulation, a parent or legal guardian must provide written consent prior to initiation of study screening procedures and the study candidate may be required to provide written assent. The rules of the responsible Institutional Review Board/Independent Ethic Committee (IRB/IEC) regarding whether 1 or both parents must provide consent and the appropriate ages for obtaining consent and assent from the participant should be followed.
  • In participants who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the period of study drug administration and 6-week follow-up period.
  • Willingness and ability to comply with scheduled visits, ataluren administration plan, study procedures, laboratory tests, and study restrictions.

Exclusion Criteria:

  • Known hypersensitivity to any of the ingredients or excipients of the study drug (Litesse® UltraTM [refined polydextrose], polyethylene glycol 3350, Lutrol® micro F127 [poloxamer 407], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab-O-Sil® M5P [colloidal silica], and magnesium stearate).
  • Ongoing participation in any other therapeutic clinical trial.
  • Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, electrocardiogram (ECG) findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.

Sites / Locations

  • University of California, Los Angeles
  • UC Davis Medical Center
  • Stanford University Medical Center
  • Children's Hospital Colorado - Center for Cancer and Blood Disorders
  • Child Neurology Center of Northwest Florida
  • Rush University Medical Center
  • University of Iowa
  • University of Kansas Medical Center
  • Children's Hospital Boston
  • University of Minnesota
  • Washington University School of Medicine, Division of Endocrinology, Metabolism and Lipid Research
  • Columbia University College of Physicians & Surgeons
  • Children's Hospital Cincinnati
  • Nationwide Children's Hospital
  • Oregon Health & Science University
  • The Children's Hospital of Philadelphia
  • Children's Hospital of Pittsburgh
  • Childrens Medical Center Dallas, Texas
  • Texas Children's Hospital
  • University of Utah
  • Seattle Children's Hospital - Childhood Cancer and Blood Disorders
  • The Children's Hospital at Westmead
  • The Royal Children's Hospital
  • UZ Leuven
  • Universidade Federal do Rio de Janeiro - Instituto de Puericultura e Pediatria Martagao Gesteira
  • Sao Paulo University -HC/FMUSP
  • Aleksandrovska Hospital
  • Alberta Children's Hospital
  • British Columbia Children's Hospital
  • Children's Hospital of Western Ontario
  • Hospital Luis Calvo Mackenna
  • Hospital Clinico Universidad Catolica
  • University Hospital Brno
  • Motol University Hospital
  • Hospital de la Timone
  • CHU de Nantes
  • Groupe Hospitalier Pitie-Salpetriere
  • Hopital Necker - Enfants Malades
  • Universitaetsklinikum Essen
  • University Medical Center Freiburg
  • Universitat Munchen - von Haunersche Kinder Clinic
  • Hadassah University Hospital
  • Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico di Milano
  • Bambino Gesu Hospital
  • U.O. Complessa di Neuropsichiatria Infantile
  • Policlinico Universitario G. Martino
  • Seoul National University Hospital
  • Medical University of Warsaw
  • Hospital Sant Joan de Deu
  • Hospital Universitari i Politecnic la Fe
  • Queen Silvia Children's Hospital
  • Astrid Lindgren Childrens Hospital
  • CHUV Lausanne
  • Hacettepe Childrens Hospital
  • Erciyes University Faculty of Medicine
  • University College London Institute of Child Health
  • Royal Manchester Children's Hospital
  • The Newcastle upon Tyne Hospitals, NHS Foundation Trust

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Ataluren

Arm Description

Participants will receive ataluren suspension orally 3 times a day (TID), 10 milligrams/kilogram (mg/kg) at morning, 10 mg/kg at midday, and 20 mg/kg at evening (total daily dose 40 mg/kg) for up to 144 weeks.

Outcomes

Primary Outcome Measures

Number of Participants With Treatment-Emergent Adverse Events (TEAEs)
An adverse event (AE): any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Severity of AEs: graded per Common Terminology Criteria for AEs (CTCAE), Version 3.0 as Grade 1 (mild), 2 (moderate), 3 (severe), 4 (life-threatening), 5 (death). Drug-related AEs: AEs with possible, probable, unlikely relationship, or unrelated to study drug. Serious AEs (SAEs): death, a life-threatening AE, inpatient hospitalization or prolongation of existing hospitalization, persistent or significant disability or incapacity, a congenital anomaly or birth defect, or an important medical event that jeopardized participant and required medical intervention. TEAE: an AE that occurred or worsened in the period extending from first dose of study drug in this study to 6 weeks after last dose of study drug in this study. A summary of other non-serious AEs and all SAEs, regardless of causality is located in Reported AE section.
Number of Participants With Abnormalities in Clinical Laboratory Parameters
Abnormalities in laboratory variables as pre-defined in protocol for safety-monitoring were: Hepatic (Serum alanine aminotransferase [ALT]: increase of greater than [>] 150 units/liter [U/L] with stable or decrease of creatinine kinese [CK]; Serum glutamyl amino transferase [GGT] [U/L]: Grade 2 [>2.5 - 5.0 * upper limit of normal {ULN}]), renal (Serum cystatin C miiligrams/liter [mg/L] >1.33 - 2.00 mg/L; Serum blood urea nitrogen [UREAN] [millimoles/liter {mmol/L}] greater than or equal to [≥]1.5 - 3.0 * ULN; Urine occult blood: 2+ [Small], 3+ [Moderate], 4+ [Large]), and electrolytes (Serum sodium: low [mmol/L], Grade 3-4 [less than {<}130 mmol/L]; serum potassium: high [mmol/L], Grade 3-4 [>6.0 mmol/L]; and Serum bicarbonate [mmol/L]: Grade 2 [<16 - 11 mmol/L]).

Secondary Outcome Measures

Change From Baseline in 6MWD at Week 144
The 6MWD test was performed in a 30 meters long flat corridor, where the participant was instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures by measuring the 6MWD in meters. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test.
Change From Baseline in Time to Stand From Supine Position at Week 144
If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.
Change From Baseline in Time to Walk/Run 10 Meters at Week 144
If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.
Change From Baseline in Time to Climb 4 Stairs at Week 144
If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.
Change From Baseline in Time to Descend 4 Stairs at Week 144
If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.
Change From Baseline in Physical Function Total Score as Measured by NSAA at Week 144
Physical function was assessed via the NSAA, a functional scale specifically designed for ambulant Duchenne muscular dystrophy (DMD) participants. The assessment comprised tests for 17 abilities of a participant, such as ability to stand, rise from the floor, get from lying to sitting, get from sitting to standing, raise one's head, stand on one's heels, hop, jump, and run. For each activity, a score of 0, 1, or 2 was recorded, with 0 = "unable to achieve independently," 1 = "modified method but achieves goal independent of physical assistance from another," or 2 = "normal- achieves goal without any assistance." The sum of these scores (except for 'raise one's head' activity score) was reported as the ordinal total score, which was transformed to a linear total score ranging from 0 (worst) to 100 (best). Participants with confirmed loss of ambulation at a particular visit were assigned a score of 0.
Change From Baseline in PUL Total Score at Week 144
The PUL was used to assess motor performance of the upper limb. The PUL scale includes 22 items; an entry item defining the starting functional level, and 21 items subdivided into shoulder level (4 items), elbow level (9 items), and distal level (8 items) dimensions. Scoring options per item may not be uniform and may vary from 0-1 and 0-6, according to the performance, with higher values corresponding to better performance. Each dimension was scored separately with a maximum score of 16 for shoulder level, 34 for elbow level, and 24 for distal level. Total score was calculated by adding the 3 level scores, with a maximum global score of 74 (total score range = 0-74). Higher score = better outcome.
Change From Baseline in Percent Predicted FVC as Measured by Spirometry at Week 144
FVC is a standard pulmonary function test. FVC was defined as the volume of air that can forcibly be blown out after full inspiration in the upright position, measured in liters. Percent predicted FVC (in %) = [(observed FVC)/(predicted FVC)]*100.
Change From Baseline in Percent Predicted FEV1 as Measured by Spirometry at Week 144
FEV1 is a standard pulmonary function test. FEV1 was defined as the volume of air that can forcibly be blown out in 1 second, after full inspiration in the upright position, measured in liters. Percent predicted FEV1 (in %) = [(observed FEV1)/(predicted FEV1)]*100.
Change From Baseline in PEF as Measured by Spirometry at Week 144
PEF was defined as the maximum airflow during a forced expiration beginning with the lungs fully inflated.
Change From Baseline in PCF as Measured by Spirometry at Week 144
PCF measures an individual's maximum speed of expiration during cough.
Change From Baseline in PODCI Transfers/Basic Mobility Score at Week 144
Changes in health-related quality of life (HRQL) were measured via the PODCI questionnaire that has been shown to correlate with disease progression and clinical outcome measures in DMD. PODCI includes a Global Functioning Scale and 5 core scales: Upper Extremity and Physical Function,Transfer/Basic Mobility, Sports/Physical Functioning, Pain/Comfort,and Happiness. The following PODCI domain was prespecified in the protocol for analysis:Transfers/Basic Mobility domain assesses difficulty experienced in performing routine motor activities in daily life. Each domain was scored from 0 to 100, with 0 representing a poor outcome/worse health, while 100 representing the highest level of functioning and least pain.
Number of Participants With Change From Baseline in Activities of Daily Living and Disease Status at Week 144, as Assessed by a Standardized Survey Administered by Site Personnel
Changes in activities of daily living and disease symptoms were captured via a DMD-specific survey administered by Site personnel. At screening or baseline, the participant and/or parent/caregiver were asked to identify any activities of daily living (for example, ambulation, balance, personal hygiene/grooming, dressing and undressing, self-feeding, using the bathroom, handwriting, school performance, behavior or energy level) or symptoms that were affected by the participant's DMD. At post-baseline visit (Week 144), the same participant and/or parent/caregiver was asked to describe any changes from baseline in those activities of daily living/symptoms, within the following categories: physical functioning; general energy level; cognition/school function; emotional/social functioning; and sleep. Changes from baseline were reported on a 5-point Likert scale: 1 (much better), 2 (slightly better), 3 (unchanged), 4 (slightly worse), or 5 (much worse).
Ataluren Plasma Concentration
Pre-dose ataluren plasma concentrations prior to morning ataluren administration at each clinic visit was assessed using a validated high performance liquid chromatography with tandem mass spectrometry (HPLC/MS-MS) method.
Change From Baseline in Systolic and Diastolic Blood Pressure at Week 144
Blood pressure determination was performed with the participant in a sitting position after a 5-minute rest.
Change From Baseline in Pulse Rate at Week 144
Pulse rate determination was performed with the participant in a sitting position after a 5-minute rest.
Change From Baseline in Body Temperature at Week 144

Full Information

First Posted
March 17, 2014
Last Updated
August 10, 2020
Sponsor
PTC Therapeutics
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1. Study Identification

Unique Protocol Identification Number
NCT02090959
Brief Title
An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
Official Title
A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy
Study Type
Interventional

2. Study Status

Record Verification Date
August 2020
Overall Recruitment Status
Terminated
Why Stopped
Sponsor decision due to commercial availability of ataluren.
Study Start Date
March 20, 2014 (Actual)
Primary Completion Date
June 12, 2018 (Actual)
Study Completion Date
June 12, 2018 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
PTC Therapeutics

4. Oversight

Data Monitoring Committee
Yes

5. Study Description

Brief Summary
The primary objective of this study is to obtain long term safety data of ataluren in male participants with nonsense mutation dystrophinopathy (who participated and completed a previous Phase 3 study of ataluren [PTC124-GD-020-DMD {NCT01826487}]) to augment the overall safety database. Screening and baseline procedures are structured to avoid a gap in treatment between the double-blind study (PTC124-GD-020-DMD) and this extension study. This study may be further extended by amendment until either ataluren becomes commercially available or the clinical development of ataluren in duchenne muscular dystrophy (DMD) is discontinued.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases, Musculoskeletal Diseases, Neuromuscular Diseases, Nervous System Diseases, Genetic Diseases, X-Linked, Genetic Diseases, Inborn
Keywords
Duchenne muscular dystrophy, Dystrophinopathy, Nonsense mutation, Premature stop codon, Becker muscular dystrophy, DMD/BMD, PTC124, Ataluren

7. Study Design

Primary Purpose
Treatment
Study Phase
Phase 3
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
219 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Ataluren
Arm Type
Experimental
Arm Description
Participants will receive ataluren suspension orally 3 times a day (TID), 10 milligrams/kilogram (mg/kg) at morning, 10 mg/kg at midday, and 20 mg/kg at evening (total daily dose 40 mg/kg) for up to 144 weeks.
Intervention Type
Drug
Intervention Name(s)
Ataluren
Other Intervention Name(s)
PTC124
Intervention Description
Ataluren will be administered per the dose and schedule specified in the arm.
Primary Outcome Measure Information:
Title
Number of Participants With Treatment-Emergent Adverse Events (TEAEs)
Description
An adverse event (AE): any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Severity of AEs: graded per Common Terminology Criteria for AEs (CTCAE), Version 3.0 as Grade 1 (mild), 2 (moderate), 3 (severe), 4 (life-threatening), 5 (death). Drug-related AEs: AEs with possible, probable, unlikely relationship, or unrelated to study drug. Serious AEs (SAEs): death, a life-threatening AE, inpatient hospitalization or prolongation of existing hospitalization, persistent or significant disability or incapacity, a congenital anomaly or birth defect, or an important medical event that jeopardized participant and required medical intervention. TEAE: an AE that occurred or worsened in the period extending from first dose of study drug in this study to 6 weeks after last dose of study drug in this study. A summary of other non-serious AEs and all SAEs, regardless of causality is located in Reported AE section.
Time Frame
Baseline (Day 1) up to 6 weeks post-treatment (Week 150)
Title
Number of Participants With Abnormalities in Clinical Laboratory Parameters
Description
Abnormalities in laboratory variables as pre-defined in protocol for safety-monitoring were: Hepatic (Serum alanine aminotransferase [ALT]: increase of greater than [>] 150 units/liter [U/L] with stable or decrease of creatinine kinese [CK]; Serum glutamyl amino transferase [GGT] [U/L]: Grade 2 [>2.5 - 5.0 * upper limit of normal {ULN}]), renal (Serum cystatin C miiligrams/liter [mg/L] >1.33 - 2.00 mg/L; Serum blood urea nitrogen [UREAN] [millimoles/liter {mmol/L}] greater than or equal to [≥]1.5 - 3.0 * ULN; Urine occult blood: 2+ [Small], 3+ [Moderate], 4+ [Large]), and electrolytes (Serum sodium: low [mmol/L], Grade 3-4 [less than {<}130 mmol/L]; serum potassium: high [mmol/L], Grade 3-4 [>6.0 mmol/L]; and Serum bicarbonate [mmol/L]: Grade 2 [<16 - 11 mmol/L]).
Time Frame
Baseline (Day 1) up to 6 weeks post-treatment (Week 150)
Secondary Outcome Measure Information:
Title
Change From Baseline in 6MWD at Week 144
Description
The 6MWD test was performed in a 30 meters long flat corridor, where the participant was instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures by measuring the 6MWD in meters. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test.
Time Frame
Baseline, Week 144
Title
Change From Baseline in Time to Stand From Supine Position at Week 144
Description
If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.
Time Frame
Baseline, Week 144
Title
Change From Baseline in Time to Walk/Run 10 Meters at Week 144
Description
If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.
Time Frame
Baseline, Week 144
Title
Change From Baseline in Time to Climb 4 Stairs at Week 144
Description
If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.
Time Frame
Baseline, Week 144
Title
Change From Baseline in Time to Descend 4 Stairs at Week 144
Description
If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.
Time Frame
Baseline, Week 144
Title
Change From Baseline in Physical Function Total Score as Measured by NSAA at Week 144
Description
Physical function was assessed via the NSAA, a functional scale specifically designed for ambulant Duchenne muscular dystrophy (DMD) participants. The assessment comprised tests for 17 abilities of a participant, such as ability to stand, rise from the floor, get from lying to sitting, get from sitting to standing, raise one's head, stand on one's heels, hop, jump, and run. For each activity, a score of 0, 1, or 2 was recorded, with 0 = "unable to achieve independently," 1 = "modified method but achieves goal independent of physical assistance from another," or 2 = "normal- achieves goal without any assistance." The sum of these scores (except for 'raise one's head' activity score) was reported as the ordinal total score, which was transformed to a linear total score ranging from 0 (worst) to 100 (best). Participants with confirmed loss of ambulation at a particular visit were assigned a score of 0.
Time Frame
Baseline, Week 144
Title
Change From Baseline in PUL Total Score at Week 144
Description
The PUL was used to assess motor performance of the upper limb. The PUL scale includes 22 items; an entry item defining the starting functional level, and 21 items subdivided into shoulder level (4 items), elbow level (9 items), and distal level (8 items) dimensions. Scoring options per item may not be uniform and may vary from 0-1 and 0-6, according to the performance, with higher values corresponding to better performance. Each dimension was scored separately with a maximum score of 16 for shoulder level, 34 for elbow level, and 24 for distal level. Total score was calculated by adding the 3 level scores, with a maximum global score of 74 (total score range = 0-74). Higher score = better outcome.
Time Frame
Baseline, Week 144
Title
Change From Baseline in Percent Predicted FVC as Measured by Spirometry at Week 144
Description
FVC is a standard pulmonary function test. FVC was defined as the volume of air that can forcibly be blown out after full inspiration in the upright position, measured in liters. Percent predicted FVC (in %) = [(observed FVC)/(predicted FVC)]*100.
Time Frame
Baseline, Week 144
Title
Change From Baseline in Percent Predicted FEV1 as Measured by Spirometry at Week 144
Description
FEV1 is a standard pulmonary function test. FEV1 was defined as the volume of air that can forcibly be blown out in 1 second, after full inspiration in the upright position, measured in liters. Percent predicted FEV1 (in %) = [(observed FEV1)/(predicted FEV1)]*100.
Time Frame
Baseline, Week 144
Title
Change From Baseline in PEF as Measured by Spirometry at Week 144
Description
PEF was defined as the maximum airflow during a forced expiration beginning with the lungs fully inflated.
Time Frame
Baseline, Week 144
Title
Change From Baseline in PCF as Measured by Spirometry at Week 144
Description
PCF measures an individual's maximum speed of expiration during cough.
Time Frame
Baseline, Week 144
Title
Change From Baseline in PODCI Transfers/Basic Mobility Score at Week 144
Description
Changes in health-related quality of life (HRQL) were measured via the PODCI questionnaire that has been shown to correlate with disease progression and clinical outcome measures in DMD. PODCI includes a Global Functioning Scale and 5 core scales: Upper Extremity and Physical Function,Transfer/Basic Mobility, Sports/Physical Functioning, Pain/Comfort,and Happiness. The following PODCI domain was prespecified in the protocol for analysis:Transfers/Basic Mobility domain assesses difficulty experienced in performing routine motor activities in daily life. Each domain was scored from 0 to 100, with 0 representing a poor outcome/worse health, while 100 representing the highest level of functioning and least pain.
Time Frame
Baseline, Week 144
Title
Number of Participants With Change From Baseline in Activities of Daily Living and Disease Status at Week 144, as Assessed by a Standardized Survey Administered by Site Personnel
Description
Changes in activities of daily living and disease symptoms were captured via a DMD-specific survey administered by Site personnel. At screening or baseline, the participant and/or parent/caregiver were asked to identify any activities of daily living (for example, ambulation, balance, personal hygiene/grooming, dressing and undressing, self-feeding, using the bathroom, handwriting, school performance, behavior or energy level) or symptoms that were affected by the participant's DMD. At post-baseline visit (Week 144), the same participant and/or parent/caregiver was asked to describe any changes from baseline in those activities of daily living/symptoms, within the following categories: physical functioning; general energy level; cognition/school function; emotional/social functioning; and sleep. Changes from baseline were reported on a 5-point Likert scale: 1 (much better), 2 (slightly better), 3 (unchanged), 4 (slightly worse), or 5 (much worse).
Time Frame
Baseline, Week 144
Title
Ataluren Plasma Concentration
Description
Pre-dose ataluren plasma concentrations prior to morning ataluren administration at each clinic visit was assessed using a validated high performance liquid chromatography with tandem mass spectrometry (HPLC/MS-MS) method.
Time Frame
Pre-dose at Weeks 12, 24, 36, 48, 60, 72, 84, 96, 108, 120, 132, and 144
Title
Change From Baseline in Systolic and Diastolic Blood Pressure at Week 144
Description
Blood pressure determination was performed with the participant in a sitting position after a 5-minute rest.
Time Frame
Baseline, Week 144
Title
Change From Baseline in Pulse Rate at Week 144
Description
Pulse rate determination was performed with the participant in a sitting position after a 5-minute rest.
Time Frame
Baseline, Week 144
Title
Change From Baseline in Body Temperature at Week 144
Time Frame
Baseline, Week 144

10. Eligibility

Sex
Male
Minimum Age & Unit of Time
7 Years
Maximum Age & Unit of Time
15 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria: Completion of study treatment in the previous Phase 3, double-blind study (PTC124-GD-020-DMD). Evidence of signed and dated informed consent/assent document(s) indicating that the participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial. Note: If the study candidate is considered a child under local regulation, a parent or legal guardian must provide written consent prior to initiation of study screening procedures and the study candidate may be required to provide written assent. The rules of the responsible Institutional Review Board/Independent Ethic Committee (IRB/IEC) regarding whether 1 or both parents must provide consent and the appropriate ages for obtaining consent and assent from the participant should be followed. In participants who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the period of study drug administration and 6-week follow-up period. Willingness and ability to comply with scheduled visits, ataluren administration plan, study procedures, laboratory tests, and study restrictions. Exclusion Criteria: Known hypersensitivity to any of the ingredients or excipients of the study drug (Litesse® UltraTM [refined polydextrose], polyethylene glycol 3350, Lutrol® micro F127 [poloxamer 407], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab-O-Sil® M5P [colloidal silica], and magnesium stearate). Ongoing participation in any other therapeutic clinical trial. Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, electrocardiogram (ECG) findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Francesco Bibbiani, M.D.
Organizational Affiliation
PTC Therapeutics
Official's Role
Study Director
Facility Information:
Facility Name
University of California, Los Angeles
City
Los Angeles
State/Province
California
ZIP/Postal Code
90095
Country
United States
Facility Name
UC Davis Medical Center
City
Sacramento
State/Province
California
ZIP/Postal Code
95817
Country
United States
Facility Name
Stanford University Medical Center
City
Stanford
State/Province
California
ZIP/Postal Code
94305
Country
United States
Facility Name
Children's Hospital Colorado - Center for Cancer and Blood Disorders
City
Aurora
State/Province
Colorado
ZIP/Postal Code
80045
Country
United States
Facility Name
Child Neurology Center of Northwest Florida
City
Gulf Breeze
State/Province
Florida
ZIP/Postal Code
32561
Country
United States
Facility Name
Rush University Medical Center
City
Chicago
State/Province
Illinois
ZIP/Postal Code
60612
Country
United States
Facility Name
University of Iowa
City
Iowa City
State/Province
Iowa
ZIP/Postal Code
52242
Country
United States
Facility Name
University of Kansas Medical Center
City
Kansas City
State/Province
Kansas
ZIP/Postal Code
66160
Country
United States
Facility Name
Children's Hospital Boston
City
Boston
State/Province
Massachusetts
ZIP/Postal Code
02115
Country
United States
Facility Name
University of Minnesota
City
Minneapolis
State/Province
Minnesota
ZIP/Postal Code
55455
Country
United States
Facility Name
Washington University School of Medicine, Division of Endocrinology, Metabolism and Lipid Research
City
Saint Louis
State/Province
Missouri
ZIP/Postal Code
63110
Country
United States
Facility Name
Columbia University College of Physicians & Surgeons
City
New York
State/Province
New York
ZIP/Postal Code
10032
Country
United States
Facility Name
Children's Hospital Cincinnati
City
Cincinnati
State/Province
Ohio
ZIP/Postal Code
45229
Country
United States
Facility Name
Nationwide Children's Hospital
City
Columbus
State/Province
Ohio
ZIP/Postal Code
43209
Country
United States
Facility Name
Oregon Health & Science University
City
Portland
State/Province
Oregon
ZIP/Postal Code
97239
Country
United States
Facility Name
The Children's Hospital of Philadelphia
City
Philadelphia
State/Province
Pennsylvania
ZIP/Postal Code
19104
Country
United States
Facility Name
Children's Hospital of Pittsburgh
City
Pittsburgh
State/Province
Pennsylvania
ZIP/Postal Code
15224
Country
United States
Facility Name
Childrens Medical Center Dallas, Texas
City
Dallas
State/Province
Texas
ZIP/Postal Code
75207
Country
United States
Facility Name
Texas Children's Hospital
City
Houston
State/Province
Texas
ZIP/Postal Code
77030
Country
United States
Facility Name
University of Utah
City
Salt Lake City
State/Province
Utah
ZIP/Postal Code
84112
Country
United States
Facility Name
Seattle Children's Hospital - Childhood Cancer and Blood Disorders
City
Seattle
State/Province
Washington
ZIP/Postal Code
98105
Country
United States
Facility Name
The Children's Hospital at Westmead
City
Westmead
State/Province
New South Wales
ZIP/Postal Code
2145
Country
Australia
Facility Name
The Royal Children's Hospital
City
Parkville
State/Province
Victoria
ZIP/Postal Code
3052
Country
Australia
Facility Name
UZ Leuven
City
Leuven
ZIP/Postal Code
3000
Country
Belgium
Facility Name
Universidade Federal do Rio de Janeiro - Instituto de Puericultura e Pediatria Martagao Gesteira
City
Rio de Janeiro
ZIP/Postal Code
21.941-912
Country
Brazil
Facility Name
Sao Paulo University -HC/FMUSP
City
São Paulo
ZIP/Postal Code
05403-900
Country
Brazil
Facility Name
Aleksandrovska Hospital
City
Sofia
ZIP/Postal Code
1431
Country
Bulgaria
Facility Name
Alberta Children's Hospital
City
Calgary
State/Province
Alberta
ZIP/Postal Code
T3B 6A8
Country
Canada
Facility Name
British Columbia Children's Hospital
City
Vancouver
State/Province
British Columbia
ZIP/Postal Code
V6H 3V4
Country
Canada
Facility Name
Children's Hospital of Western Ontario
City
London
State/Province
Ontario
ZIP/Postal Code
N6C 2RC
Country
Canada
Facility Name
Hospital Luis Calvo Mackenna
City
Santiago
State/Province
Región Metropolitana
Country
Chile
Facility Name
Hospital Clinico Universidad Catolica
City
Santiago
ZIP/Postal Code
8330073
Country
Chile
Facility Name
University Hospital Brno
City
Brno
ZIP/Postal Code
635 00
Country
Czechia
Facility Name
Motol University Hospital
City
Praha
ZIP/Postal Code
150 06
Country
Czechia
Facility Name
Hospital de la Timone
City
Marseille
ZIP/Postal Code
13385
Country
France
Facility Name
CHU de Nantes
City
Nantes Cedex 1
ZIP/Postal Code
44093
Country
France
Facility Name
Groupe Hospitalier Pitie-Salpetriere
City
Paris Cedex 13
ZIP/Postal Code
75651
Country
France
Facility Name
Hopital Necker - Enfants Malades
City
Paris
ZIP/Postal Code
75015
Country
France
Facility Name
Universitaetsklinikum Essen
City
Essen
ZIP/Postal Code
45122
Country
Germany
Facility Name
University Medical Center Freiburg
City
Freiburg
ZIP/Postal Code
79106
Country
Germany
Facility Name
Universitat Munchen - von Haunersche Kinder Clinic
City
Munchen
ZIP/Postal Code
80337
Country
Germany
Facility Name
Hadassah University Hospital
City
Jerusalem
ZIP/Postal Code
91240
Country
Israel
Facility Name
Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico di Milano
City
Milano
ZIP/Postal Code
20122
Country
Italy
Facility Name
Bambino Gesu Hospital
City
Rome
ZIP/Postal Code
00165
Country
Italy
Facility Name
U.O. Complessa di Neuropsichiatria Infantile
City
Rome
ZIP/Postal Code
00168
Country
Italy
Facility Name
Policlinico Universitario G. Martino
City
Sicily
ZIP/Postal Code
98125
Country
Italy
Facility Name
Seoul National University Hospital
City
Seoul
ZIP/Postal Code
110-744
Country
Korea, Republic of
Facility Name
Medical University of Warsaw
City
Warsaw
ZIP/Postal Code
502-097
Country
Poland
Facility Name
Hospital Sant Joan de Deu
City
Barcelona
ZIP/Postal Code
08950
Country
Spain
Facility Name
Hospital Universitari i Politecnic la Fe
City
Valencia
ZIP/Postal Code
46026
Country
Spain
Facility Name
Queen Silvia Children's Hospital
City
Goteburg
ZIP/Postal Code
SE-416 85
Country
Sweden
Facility Name
Astrid Lindgren Childrens Hospital
City
Stockholm
ZIP/Postal Code
17176
Country
Sweden
Facility Name
CHUV Lausanne
City
Lausanne
ZIP/Postal Code
1011
Country
Switzerland
Facility Name
Hacettepe Childrens Hospital
City
Ankara
ZIP/Postal Code
06100
Country
Turkey
Facility Name
Erciyes University Faculty of Medicine
City
Talas/Kayseri
ZIP/Postal Code
38039
Country
Turkey
Facility Name
University College London Institute of Child Health
City
London
ZIP/Postal Code
WC1N 3JH
Country
United Kingdom
Facility Name
Royal Manchester Children's Hospital
City
Manchester
ZIP/Postal Code
M13 9WL
Country
United Kingdom
Facility Name
The Newcastle upon Tyne Hospitals, NHS Foundation Trust
City
Newcastle upon Tyne
ZIP/Postal Code
NE1 3BZ
Country
United Kingdom

12. IPD Sharing Statement

Plan to Share IPD
No
Citations:
PubMed Identifier
30135256
Citation
Thangarajh M, Elfring GL, Trifillis P, McIntosh J, Peltz SW; Ataluren Phase 2b Study Group. The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy. Neurology. 2018 Sep 25;91(13):e1215-e1219. doi: 10.1212/WNL.0000000000006245. Epub 2018 Aug 22.
Results Reference
derived
Links:
URL
http://www.ptcbio.com
Description
Related Info

Learn more about this trial

An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy

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