Duchenne Treatments

Available Sarepta Therapies

Explore classes of therapy for Duchenne muscular dystrophy (DMD).

Treatments

Gene therapy
EXONDYS 51
VYONDYS 53
AMONDYS 45

EXONDYS 51 (eteplirsen)

Prescribing Information

EXONDYS 51 is indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping. This indication is approved under accelerated approval based on an increase in dystrophin in skeletal muscle observed in some patients treated with EXONDYS 51. Continued approval for this indication may be contingent upon verification of a clinical benefit in confirmatory trials.1

Designed to Skip Exon 51

EXONDYS 51 is designed to skip exon 51, correcting the out-of-frame mutation that causes a lack of functional dystrophin and intended to allow for the production of an internally truncated dystrophin protein in patients living with DMD.1-3

The effect of EXONDYS 51 on dystrophin production was evaluated in three studies in patients with a confirmed mutation of the DMD gene that is amenable to exon 51 skipping.1

EXONDYS 51 modified gene expression in all patients evaluated, as measured by RT-PCR

100% (N=36)

of patients biopsied demonstrated exon skipping with EXONDYS 511

RT-PCR=reverse transcription polymerase chain reaction.

Overview of patients treated with EXONDYS 51 in clinical trials4,a

EXONDYS 51 Clinical Trials Table

aAll patients in clinical trials have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping.

bAll 12 patients who participated in Study 1 continued treatment with EXONDYS 51 weekly for an additional 4 years in Study 2.

PK = pharmacokinetics.

Some Patients Had an Increase in Dystrophin Over Baseline With EXONDYS 511

Patients showed an average dystrophin increase of 2.8x the baseline level (range: -0.19 to +8.40)

EXONDYS 51 Dystrophin Levels

cFold change in dystrophin=change from baseline, percent normal dystrophin/baseline, percent normal dystrophin.

  • Dystrophin levels measured via western blot can be affected by differences in sample processing, analytical technique, reference materials, and quantification methodologies1
  • Comparing dystrophin results from different assay protocols will require a standardized reference material and additional bridging studies1

Dystrophin Production With EXONDYS 511

Average Dystrophin Protein Level in Muscle Tissue

EXONDYS 51 Dystrophin Levels in Muscle Tissue
EXONDYS 51 Dystrophin Levels in Muscle Tissue
  • Dystrophin levels measured via western blot can be affected by differences in sample processing, analytical technique, reference materials, and quantification methodologies1
  • Comparing dystrophin results from different assay protocols will require a standardized reference material and additional bridging studies1
  • Study 2 failed to provide evidence of a clinical benefit of EXONDYS 51 compared to the external control group1

Hypersensitivity Reactions

Hypersensitivity reactions, including bronchospasm, chest pain, cough, tachycardia and urticaria, have occurred in patients who were treated with EXONDYS 51. If a hypersensitivity reaction occurs, institute appropriate medical treatment and consider slowing the infusion or interrupting the EXONDYS 51 therapy.1

Adverse Reactions

EXONDYS 51 was studied in a double-blind, placebo-controlled study for 24 weeks (Study 1), followed by an open-label extension (Study 2). In Study 1, 12 patients were randomized to receive weekly intravenous infusions of EXONDYS 51 (N=8) or placebo (N=4) for 24 weeks. All 12 patients continued in Study 2 and received open-label EXONDYS 51 weekly for up to 208 weeks.1

The following adverse reactions were observed in patients with DMD treated for 24 weeks with 30 or 50 mg/kg/week EXONDYS 51 with incidence at least 25% more than placebo.1

EXONDYS 51 Safety
  • Because of the small number of patients, these represent crude frequencies that may not reflect the frequencies observed in practice1
  • The 50 mg/kg weekly dosing regimen of EXONDYS 51 is not recommended1

In open-label observational studies, 163 patients received at least one intravenous dose of EXONDYS 51, with doses ranging between 0.5 mg/kg (0.017 times the recommended dosage) and 50 mg/kg (1.7 times the recommended dosage). All patients were male and had genetically confirmed Duchenne muscular dystrophy. Age at study entry was 6 months to 19 years. Most (85%) patients were Caucasian.1

The most common adverse reactions seen in greater than 10% of the study population were headache, cough, rash, and vomiting. Postmarketing adverse reactions that occurred during infusion include bronchospasm, cyanosis of the lips, and malaise. The following adverse reactions have also been reported in patients receiving EXONDYS 51: pyrexia, flushing, protein urine present, and dehydration.1

Please see the full Prescribing Information for EXONDYS 51 (eteplirsen).

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IMPORTANT SAFETY INFORMATION

EXONDYS 51 (eteplirsen) is indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping. This indication is approved under accelerated approval based on an increase in dystrophin in skeletal muscle observed in some patients treated with EXONDYS 51. Continued approval for this indication may be contingent upon verification of a clinical benefit in confirmatory trials.

IMPORTANT SAFETY INFORMATION

Hypersensitivity:
Hypersensitivity reactions, including bronchospasm, chest pain, cough, tachycardia and urticaria, have occurred in patients who were treated with EXONDYS 51. If a hypersensitivity reaction occurs, institute appropriate medical treatment and consider slowing the infusion or interrupting the EXONDYS 51 therapy.

Adverse Reactions:
Adverse reactions in DMD patients (N=8) treated with EXONDYS 51 30 or 50 mg/kg/week by intravenous (IV) infusion with an incidence of at least 25% more than placebo (N=4) (Study 1, 24 weeks) were (EXONDYS 51, placebo): balance disorder (38%, 0%), vomiting (38%, 0%) and contact dermatitis (25%, 0%). The most common adverse reactions were balance disorder and vomiting. Because of the small numbers of patients, these represent crude frequencies that may not reflect the frequencies observed in practice. The 50 mg/kg once weekly dosing regimen of EXONDYS 51 is not recommended.

The most common adverse reactions from observational clinical studies (N=163) seen in greater than 10% of patients were headache, cough, rash, and vomiting.

Please see the full Prescribing Information for EXONDYS 51 (eteplirsen).

INDICATION

EXONDYS 51 (eteplirsen) is indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping. This indication is approved under accelerated approval based on an increase in dystrophin in skeletal muscle observed in some patients treated with EXONDYS 51. Continued approval for this indication may be contingent upon verification of a clinical benefit in confirmatory trials.

References: 1. EXONDYS 51 [package insert]. Cambridge, MA: Sarepta Therapeutics, Inc. 2022. 2. Aartsma-Rus A, Van Deutekom JCT, Fokkema IF, et al. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 2006;34(2):135-144. 3. Wood MJA, Gait MJ, Yin H. RNA-targeted splice-correction therapy for neuromuscular disease. Brain. 2010;133(pt 4):957-972. 4. Data on File. Sarepta Therapeutics, Inc.