Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD)

NCT01247207 | Completed Phase 3

• 1 other identifier: PTC124-GD-016 DMD
• Study Type: interventional
• Target: 270
• Locations: 2 countries
• Sites: 34

Brief Summary

The objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC sponsored clinical trial or treatment plan, and siblings of those participants (provided those participants have completed the placebo-controlled portion of the trial). The treatment will continue under this protocol until consent withdrawal by participants, withdrawal due to worsen condition after initiating ataluren treatment, withdrawal by investigator, withdrawal due to participant unable to tolerate ataluren, participant is eligible to participate in another ataluren nmDBMD clinical trial program initiated by sponsor, study is discontinued by the relevant regulatory authority and/or sponsor, or until ataluren becomes commercially available.

Conditions

Duchenne Muscular Dystrophy

Keywords

Duchenne muscular dystrophy; Becker muscular dystrophy; Nonsense mutation; Premature stop codon; DMD; BMD; nmDBMD; DBMD; Ataluren; PTC124

Outcome Measures

Primary Outcomes (3)

• Number of Participants With Adverse Events

  Baseline up to end of study (up to approximately 8 years)

• Number of Participants With Laboratory Parameters Abnormalities

  Laboratory parameters include hematological, serum biochemistry, adrenal laboratories, and urine data.

  Baseline up to end of study (up to approximately 8 years)

• Number of Participants With Abnormal Physical Findings

  Physical findings include weight, physical examination data, systolic and diastolic blood pressure, radial pulse rate, and body temperature.

  Baseline up to end of study (up to approximately 8 years)

Study Arms (1)

Ataluren

EXPERIMENTAL

Participants will receive 3 doses of ataluren oral suspension per day (10 mg/kg in the morning, 10 mg/kg at mid-day and 20 mg/kg in the evening).

Drug: Ataluren

Interventions

Ataluren DRUG

Ataluren will be administered as per the dose and schedule specified in the arm.

Also known as: PTC124, Translarna

Ataluren

Eligibility Criteria

• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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 one or both parents must provide consent and the appropriate ages for obtaining consent and assent from the participant should be followed.
• History of exposure to ataluren in a prior PTC study or treatment plan and effected nmDBMD siblings of those participants (provided those participants have completed the placebo-controlled portion of the trial).
• Fertile men, who are sexually active with women of childbearing potential and who have not had a vasectomy, must agree to use a barrier method of birth control during the study and for up to 50 days after the last dose of study drug.
• Willingness and ability to comply with scheduled visits, drug administration and return plan, study procedures, laboratory tests, and study restrictions Note: Psychological, social, familial, or geographical factors that might preclude adequate study participation should be considered.

You may not qualify if:

• Exposure to another investigational drug within 1 month prior to start of study treatment.
• Eligibility for another ataluren clinical trial that is actively enrolling study participants.
• Positive for Hepatitis B core antibody or Hepatitis C antibody at screening for ataluren naïve participants (siblings) or participants who have a temporary treatment gap of 1 year before entering study
• Known hypersensitivity to any of the ingredients or excipients of ataluren (refined polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, colloidal silica, magnesium stearate).
• Ongoing intravenous (IV) aminoglycoside or IV vancomycin therapy.
• Ongoing uncontrolled medical/surgical condition, electrocardiogram (ECG) findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant or make it unlikely that follow-up would be completed.

Sponsors & Collaborators

• PTC Therapeutics: lead

Study Sites (34)

Phoenix Childrens Hospital

Phoenix, Arizona, 85016, United States

Location

Children's Hospital of Los Angeles

Los Angeles, California, 90027, United States

Location

UCLA

Los Angeles, California, 90095, United States

Location

Stanford University

Palo Alto, California, 94304, United States

Location

University of California-Davis

Sacramento, California, 95817, United States

Location

University of CA, San Francisco-Benioff Children's Hospital

San Francisco, California, 94158, United States

Location

Children's Hospital Colorado - Center for Cancer and Blood Disorders

Aurora, Colorado, 80045, United States

Location

Child Neurology Center of NW Florida NW

Gulf Breeze, Florida, 32561, United States

Location

Rare Disease Research, LLC

Atlanta, Georgia, 30329, United States

Location

Rush Univ Medical Center

Chicago, Illinois, 60612, United States

Location

University of Iowa Children's Hospital

Iowa City, Iowa, 52242, United States

Location

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

Children's Hospital of Boston/Harvard Medical School

Boston, Massachusetts, 02115, United States

Location

University of Michigan

Ann Arbor, Michigan, 48109, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

Washington University Medical School

St Louis, Missouri, 63110, United States

Location

Columbia University Pediatric Neuromuscular Center

New York, New York, 10032, United States

Location

Duke University Medical Center

Durham, North Carolina, 27710, United States

Location

Cincinnati Childrens Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Shriners Hospital for Children-Portland

Portland, Oregon, 97239, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

University of Pittsburgh Medical Center

Pittsburgh, Pennsylvania, 16148, United States

Location

Childrens Medical Center Dallas

Dallas, Texas, 75207, United States

Location

Texas Children's Hospital

Houston, Texas, 77030, United States

Location

University of Texas Health Science Center at San Antonio

San Antonio, Texas, 78229, United States

Location

University of Utah

Salt Lake City, Utah, 84112, United States

Location

Children's Hospital of the King's Daughters

Norfolk, Virginia, 23507, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

Alberta Children's Hospital

Calgary, Alberta, Canada

Location

British Columbia Children's Hospital

Vancouver, British Columbia, Canada

Location

London Health Sciences Centre

London, Ontario, Canada

Location

Children's Hospital of East Ontario

Ottawa, Ontario, Canada

Location

CHU de Québec - Université Laval

Québec, Canada

Location

Related Publications (2)

• Hirawat S, Welch EM, Elfring GL, Northcutt VJ, Paushkin S, Hwang S, Leonard EM, Almstead NG, Ju W, Peltz SW, Miller LL. Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol. 2007 Apr;47(4):430-44. doi: 10.1177/0091270006297140.

  PMID: 17389552 RESULT

• Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S, Wilde RG, Karp G, Takasugi J, Chen G, Jones S, Ren H, Moon YC, Corson D, Turpoff AA, Campbell JA, Conn MM, Khan A, Almstead NG, Hedrick J, Mollin A, Risher N, Weetall M, Yeh S, Branstrom AA, Colacino JM, Babiak J, Ju WD, Hirawat S, Northcutt VJ, Miller LL, Spatrick P, He F, Kawana M, Feng H, Jacobson A, Peltz SW, Sweeney HL. PTC124 targets genetic disorders caused by nonsense mutations. Nature. 2007 May 3;447(7140):87-91. doi: 10.1038/nature05756. Epub 2007 Apr 22.

  PMID: 17450125 RESULT

Related Links

• PTC Therapeutics, Inc website
• Protocol V7.0

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Interventions

ataluren

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Vinay Penematsa, MD

  PTC Therapeutics, Inc.

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 22, 2010
• First Posted: November 24, 2010
• Study Start: November 30, 2010
• Primary Completion: February 10, 2026
• Study Completion: February 10, 2026
• Last Updated: March 9, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (29); CA (5)