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Trial record 8 of 1028 for:    BMD

Study of Ataluren (PTC124®) in Nonambulatory Patients 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. Identifier: NCT01009294
Recruitment Status : Terminated
First Posted : November 6, 2009
Last Update Posted : April 8, 2019
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
PTC Therapeutics

Brief Summary:
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 will enroll boys with nonsense mutation DMD/BMD who have lost independent mobility due to the disease. This study will evaluate the safety and tolerability of ataluren (PTC124) and will also evaluate efficacy outcomes in this patient population.

Condition or disease Intervention/treatment Phase
Duchenne Muscular Dystrophy Becker Muscular Dystrophy Drug: Ataluren (PTC124) Phase 2

Detailed Description:

It is planned that this Phase 2a, open-label, safety and efficacy study will be performed at 5 sites in the US and 1 site in the UK.

The study will enroll ~30 boys with nonsense mutation DMD/BMD who have been nonambulatory for at least one year. Enrollment will be stratified to ensure evaluation of ~15 participants who are receiving chronic corticosteroid therapy and of ~15 participants who are not receiving chronic corticosteroid therapy. Subjects will take ataluren 3 times per day (at breakfast, lunch, and dinner) for 48 weeks (~1 year). Study assessments will be performed at clinic visits during screening, every 6 weeks for 2 visits and then every 12 weeks until the end of the study. Additional safety laboratory testing is required 4 times during the course of the study; this may be performed at the investigational site, at an accredited local laboratory or clinic, or in the subject's home using a nursing service.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 6 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Phase 2a Study of Ataluren (PTC124) in Nonambulatory Patients With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy
Actual Study Start Date : November 30, 2009
Actual Primary Completion Date : March 31, 2010
Actual Study Completion Date : May 31, 2010

Arm Intervention/treatment
Experimental: Ataluren (PTC124)
Experimental Ataluren (PTC124) PO 20-,20-,40-mg/kg TID
Drug: Ataluren (PTC124)
Oral powder for suspension taken 3 times per day (20 mg/kg with breakfast, 20 mg/kg with lunch, and 40 mg/kg with dinner) for up to 48 weeks.

Primary Outcome Measures :
  1. Safety and tolerability of ataluren (PTC124) in non ambulatory subjects with nmDMD/BMD [ Time Frame: 48 weeks ]

Secondary Outcome Measures :
  1. Upper extremity function [ Time Frame: 48 weeks ]
  2. Upper extremity range of motion [ Time Frame: 48 weeks ]
  3. Upper extremity muscle strength in subjects who are able to perform myometry [ Time Frame: 48 weeks ]
  4. Hand fine-motor coordination and dexterity [ Time Frame: 48 weeks ]
  5. Pulmonary function [ Time Frame: 48 weeks ]
  6. Cardiac function [ Time Frame: 48 weeks ]
  7. Cognitive ability [ Time Frame: 48 weeks ]
  8. Health-related quality of life [ Time Frame: 48 weeks ]
  9. Activities of daily living [ Time Frame: 48 weeks ]
  10. Muscle fragility as determined by serum CK levels [ Time Frame: 48 weeks ]
  11. Muscle dystrophin expression [ Time Frame: 48 weeks ]
  12. Ataluren compliance [ Time Frame: 48 weeks ]
  13. Ataluren plasma exposure [ Time Frame: 48 weeks ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   7 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Diagnosis of DMD or BMD
  • Presence of a nonsense mutation in the dystrophin gene
  • Unable to ambulate independently for ≥1 year due to DMD/BMD
  • Presence of sufficient shoulder and elbow function to perform study-related functional procedures (eg, 9-hole peg test)
  • Adequate hepatic, renal, and adrenal function
  • Ability to provide evaluable pretreatment echocardiogram and lung function assessments
  • Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions
  • Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if <18 years of age)

Exclusion Criteria:

  • Initiation of systemic corticosteroid therapy within 6 months prior to start of study treatment or use of systemic aminoglycoside antibiotic within 3 months prior to start of study treatment
  • Use of any intermittent systemic corticosteroid therapy regimen (eg, 10 days on followed by 10 days off, weekend dosing, every-other-day dosing); note that patients must either be receiving a daily dosing regimen of prednisone, prednisolone, or deflazacort at the time of enrollment into the study or must not be receiving any systemic corticosteroids
  • Any change in treatment for congestive heart failure within 3 months prior to start of study treatment
  • Ongoing warfarin or phenytoin therapy
  • Prior therapy with ataluren
  • Known hypersensitivity to any of the ingredients or excipients of ataluren (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], magnesium stearate).
  • Exposure to another investigational drug within 2 months prior to start of study treatment
  • History of major surgical procedure within 1 month prior to start of study treatment or expectation of major surgical procedure (eg, scoliosis surgery) during the 48-week treatment period of the study
  • Ongoing immunosuppressive therapy (other than corticosteroids)
  • Ongoing participation in any other clinical trial
  • Requirement for daytime ventilator assistance
  • Uncontrolled clinical symptoms and signs of congestive heart failure
  • Prior or ongoing medical condition (eg, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow up would be completed, or could impair the assessment of study results.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01009294

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United States, California
University of California-Davis
Davis, California, United States, 95616
United States, Massachusetts
Children's Hospital of Boston
Boston, Massachusetts, United States, 02115
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
United States, Missouri
Washington University Medical School
Saint Louis, Missouri, United States, 63110
United States, Ohio
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
United Kingdom
University of Newcastle
Newcastle upon Tyne, United Kingdom, NE1 3BZ
Sponsors and Collaborators
PTC Therapeutics
Genzyme, a Sanofi Company
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Study Director: Leone Atkinson, MD, PhD PTC Therapeutics

Additional Information:
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Responsible Party: PTC Therapeutics Identifier: NCT01009294    
Other Study ID Numbers: PTC124-GD-008-DMD
First Posted: November 6, 2009    Key Record Dates
Last Update Posted: April 8, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by PTC Therapeutics:
Duchenne muscular dystrophy
Becker muscular dystrophy
Nonsense mutation
Premature stop codon
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked