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Safety Study of Eteplirsen to Treat Advanced Stage Duchenne Muscular Dystrophy

Phase 2
Completed
Conditions
Muscular Dystrophy, Duchenne
Interventions
Registration Number
NCT02286947
Lead Sponsor
Sarepta Therapeutics, Inc.
Brief Summary

The primary objective of this study is to explore safety and tolerability of eteplirsen in participants with advanced stage Duchenne muscular dystrophy (DMD) who are amenable to exon 51 skipping.

Detailed Description

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

Participants will be evaluated for inclusion during a Screening/Baseline period of up to 4 weeks. Eligible participants 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.

Recruitment & Eligibility

Status
COMPLETED
Sex
Male
Target Recruitment
24
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.

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
Eteplirsen 30 mg/kgEteplirsenParticipants will receive eteplirsen 30 mg/kg/week intravenous (IV) infusions, weekly, for up to 96 weeks.
Primary Outcome Measures
NameTimeMethod
Number of Participants With Treatment Emergent Adverse EventsFrom first dose of drug up to 100 weeks

An adverse event (AE) was any untoward medical occurrence in a participant that did not necessarily have a causal relationship with the study drug. A serious adverse event (SAE) was an AE resulting in any of the following outcomes: death; Life-threatening event; Required or prolonged inpatient hospitalization; persistent or significant disability/incapacity; congenital anomaly. Treatment-emergent AEs were events that developed or worsened during the on-treatment period (defined as time from first dose of study drug and up to 28 days after last dose of study drug (up to 100 weeks) that were absent before treatment or that worsened relative to pretreatment state. AEs included both serious and non-serious adverse events.

Secondary Outcome Measures
NameTimeMethod
Number of Participants With Potentially Clinically Significant Laboratory AbnormalitiesBaseline up to 100 weeks

Laboratory parameters included hematology, clinical chemistry, urinalysis and coagulation. Data is only reported for parameters in which at least 1 participant had potentially clinically significant abnormal findings.

Incr=increase; LLN=lower limit of normal; ULN=upper limit of normal; GGT=gamma glutamyl transferase

Number of Participants With at Least One Potentially Clinically Significant Abnormalities in Physical ExaminationsBaseline up to 100 weeks

Physical examinations, full and brief, were performed by the Investigator, a physician Sub-Investigator, or a Nurse Practitioner (if licensed in the state or province to perform physical examinations). Full physical examinations included examination of general appearance; head, ears, eyes, nose, and throat; heart; lungs; chest; abdomen; skin; lymph nodes; and musculoskeletal and neurological systems. Brief physical examinations included examination of general appearance; head, ears, eyes, nose, and throat; heart; lungs; chest; abdomen; and skin.

Number of Participants With Abnormalities in Echocardiograms (ECHO)Baseline up to 100 weeks

Standard, 2-dimensional ECHOs were performed at a consistent time of day throughout the study. The ECHO was reviewed and interpreted by medically qualified personnel using a central vendor according to prespecified criteria. Ejection fraction was noted. The Investigator reviewed the results of the ECHO report and determined if the findings were clinically significant.

LEVF=left ventricular ejection fraction

Number of Participants With Potentially Clinically Significant Abnormalities in Vital SignsBaseline up to 100 weeks

Vital sign parameters included systolic blood pressure (SBP), diastolic blood pressure (DBP), heart rate (HR), and body temperature. Data is only reported for parameters in which at least 1 participant had potentially clinically significant abnormal vital sign findings.

Number of Participants With Abnormalities in Electrocardiograms (ECGs)Baseline up to 100 weeks

Twelve-lead ECGs and Holter ECGs were performed at a consistent time of day throughout the study. Electrocardiograms were performed only after the patient was in the supine position, resting, and quiet for a minimum of 15 minutes. The ECG was manually reviewed and interpreted by medically qualified personnel using a central vendor according to prespecified criteria. The Investigator reviewed the results of the centrally read ECG report and determined if the findings were clinically significant. Data is only reported for parameters in which at least 1 participant had potentially clinically significant abnormal ECG findings.

msec=milliseconds; QTcF=QT interval corrected with Fridericia's method

Trial Locations

Locations (9)

Massachusetts General Hospital

🇺🇸

Boston, Massachusetts, United States

University of Rochester Medical Center

🇺🇸

Rochester, New York, United States

Nationwide Children's Hospital

🇺🇸

Columbus, Ohio, United States

Seattle Children's Hospital

🇺🇸

Seattle, Washington, United States

University of California, Davis Medical Center

🇺🇸

Sacramento, California, United States

Ronald Reagan UCLA Medical Center

🇺🇸

Los Angeles, California, United States

Kennedy Krieger Institute

🇺🇸

Baltimore, Maryland, United States

University of Iowa Children's Hospital

🇺🇸

Iowa City, Iowa, United States

St. Louis Children's Hospital

🇺🇸

Saint Louis, Missouri, United States

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