Eteplirsen Brand Name– Exondys 51
What is Eteplirsen
Eteplirsen is an antisense oligonucleotide specifically indicated for the treatment of patients with Duchenne muscular dystrophy (DMD) who have a confirmed mutation of the dystrophin gene that makes them more likely to respond to exon 51 skipping.
Approximately 13% of the DMD population has this mutation.
DMD is a rare, X-chromosome-linked disease characterized by progressive muscle deterioration and weakness; it affects approximately 1 in 3,500 to 5,000 male births.
Affected children typically develop symptoms in early childhood that quickly progress to a loss of ambulation in adolescence and ultimately, life-threatening heart and respiratory conditions that limit life expectancy to early adulthood.
Eteplirsen is the first drug to receive FDA-approval for the treatment of DMD.
This approval was based on the surrogate endpoint of increased dystrophin production in skeletal muscle, which the FDA has stated is reasonably likely to predict clinical benefit (e.g., improved motor function).
However, small clinical trials failed to demonstrate statistically significant clinical benefit compared to placebo, and the amount of protein produced was only a small fraction of the normal level.
In one study, the median increase in truncated dystrophin was 0.1%; the average dystrophin protein level was 0.16% of normal (i.e., 0.16% of the dystrophin level in healthy subjects) before treatment and 0.44% of normal after 48 weeks of treatment. In another study, the average dystrophin protein level in muscle tissues was 0.93% of normal after 180 weeks of treatment.
Nonetheless, eteplirsen offers a low-risk treatment option for patients with a rare, debilitating, and life-threatening genetic disorder. The most common adverse effects reported during clinical trials were balance disorder and vomiting.
Eteplirsen was FDA-approved in September 2016.
Indications
- Duchenne muscular dystrophy
For the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation of the DMD gene that is amenable to exon 51 skipping
Side Effects
- arthralgia
- bronchospasm
- contact dermatitis
- cough
- dyspnea
- ecchymosis
- fever
- flushing
- hypotension
- infection
- injection site reaction
- rash
- urticaria
- vertigo
- vomiting
Monitoring Parameters
- laboratory monitoring not necessary
Contraindications
- breast-feeding
- geriatric
- pregnancy
Interactions
There are no drug interactions associated with Eteplirsen products.
