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Safety Study of Eteplirsen to Treat Advanced Stage Duchenne Muscular Dystrophy

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ClinicalTrials.gov Identifier: NCT02286947
Recruitment Status : Active, not recruiting
First Posted : November 10, 2014
Last Update Posted : October 4, 2017
Information provided by (Responsible Party):

Study Description
Brief Summary:
The primary objective of this study is to explore safety and tolerability of eteplirsen in patients with advanced stage Duchenne muscular dystrophy (DMD) who are amenable to exon 51 skipping. The exploratory objectives are to evaluate the effect of eteplirsen on pulmonary function tests (PFTs) and other functional clinical measures.

Condition or disease Intervention/treatment Phase
Muscular Dystrophy, Duchenne Drug: eteplirsen Phase 2

Detailed Description:

This is an open-label, multi-center study to explore the safety and tolerability of eteplirsen injection in patients with advanced stage DMD with confirmed genetic mutations amenable to treatment by exon 51 skipping.

Patients will be evaluated for inclusion during a Screening/Baseline period of up to 4 weeks. Eligible patients will receive once weekly intravenous (IV) infusions of 30 mg/kg eteplirsen for 96 weeks, followed by a safety extension (not to exceed 48 weeks).

Safety will be regularly assessed throughout the study via the collection of adverse events (AEs), laboratory tests, electrocardiograms (ECGs), echocardiograms (ECHOs), vital signs, and physical examinations. Exploratory efficacy assessments, including PFTs, upper extremity testing, and other measurements of functional status, will occur at functional assessment visits every 12 weeks over the first year of treatment and approximately every 24 weeks over the second year of treatment.

Study Design

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 20 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: An Open-Label, Multi-Center Study to Evaluate the Safety and Tolerability of Eteplirsen in Patients With Advanced Stage Duchenne Muscular Dystrophy
Study Start Date : November 2014
Primary Completion Date : April 2017
Estimated Study Completion Date : December 2017

Arms and Interventions

Arm Intervention/treatment
Experimental: Advanced Stage Intervention Group
Approximately 20 patients will receive weekly infusions of eteplirsen 30 mg/kg.
Drug: eteplirsen
Eteplirsen 30 mg/kg will be administered as an IV infusion once a week for 96 weeks, followed by a safety extension (not to exceed 48 weeks).
Other Names:
  • AVI-4658
  • EXONDYS 51®

Outcome Measures

Primary Outcome Measures :
  1. Number of patients with treatment emergent adverse events. [ Time Frame: up to 144 weeks ]

Secondary Outcome Measures :
  1. Number of patients with clinical laboratory abnormalities. [ Time Frame: up to 144 weeks ]
  2. Number of patients with abnormalities in vital signs and ECG [ Time Frame: up to 144 weeks ]
  3. Mean Change from baseline tin maximum inspiratory pressure (MIP) % predicted [ Time Frame: Baseline to Week 96 ]
  4. Mean Change from baseline in maximum expiratory pressure (MEP) % predicted [ Time Frame: Baseline to Week 96 ]

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   7 Years to 21 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Male 7 - 21 years of age
  • Diagnosis of DMD with a mutation that is amenable to exon 51 skipping, confirmed by a genetic report
  • Stable dose of oral corticosteroids for at least 24 weeks or has not received corticosteroids for at least 24 weeks
  • Non-ambulatory, or incapable of walking ≥300 meters on the 6-Minute Walk Test (6MWT).
  • Score of ≤4 on the Brooke Score for Arms and Shoulders.
  • Stable cardiac and pulmonary function
  • Use of contraceptives for sexually active males throughout the study
  • Willing to provide consent and comply with the study

Exclusion Criteria:

  • Use of any pharmacologic treatment (other than corticosteroids) within 12 weeks that may have an effect on muscle strength or function (e.g., growth hormone, anabolic steroids).
  • Previous treatment with SMT C1100/BMN 195 at any time.
  • Previous treatment with drisapersen (PRO051) within the last 6 months.
  • Participation in any other DMD interventional clinical study within 12 weeks
  • Major change in physiotherapy regimen within the past 3 months
  • Major surgery within 3 months
  • Presence of other clinically significant illness
  • Use of an aminoglycoside antibiotic within 12 weeks or the need for this antibiotic or statin during study
  • Forced vital capacity % predicted [FVC % predicted] <40%, or requiring daytime ventilation.
  • Require antiarrhythmic and/or antidiuretic therapy for heart failure.
  • Have a left ventricular ejection fraction (LVEF) of <40%.
  • Prior or ongoing medical condition that could adversely affect the safety of the patient, make it unlikely that the course of treatment would be completed, or impair the assessment of study results.
Contacts and Locations

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 ClinicalTrials.gov identifier (NCT number): NCT02286947

United States, California
Ronald Reagan UCLA Medical Center
Los Angeles, California, United States, 90095
University of California, Davis Medical Center
Sacramento, California, United States, 95817
United States, Iowa
University of Iowa Children's Hospital
Iowa City, Iowa, United States, 52242
United States, Maryland
Kennedy Krieger Institute
Baltimore, Maryland, United States, 21205
United States, Massachusetts
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
United States, Missouri
St. Louis Children's Hospital
Saint Louis, Missouri, United States, 63110
United States, New York
University of Rochester Medical Center
Rochester, New York, United States, 14642
United States, Ohio
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
United States, Washington
Seattle Children's Hospital
Seattle, Washington, United States, 98105
Sponsors and Collaborators
Sarepta Therapeutics
Study Director: Chris Mix, MD Sarepta Therapeutics
Study Director: Catherine Stehman-Breen, MD, MS Sarepta Therapeutics
More Information

Responsible Party: Sarepta Therapeutics
ClinicalTrials.gov Identifier: NCT02286947     History of Changes
Other Study ID Numbers: 4658-204
First Posted: November 10, 2014    Key Record Dates
Last Update Posted: October 4, 2017
Last Verified: September 2017

Keywords provided by Sarepta Therapeutics:
exon 51

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked