Exondys 51: Treatment For Duchenne muscular dystrophy (DMD)

In the realm of rare genetic disorders, Duchenne muscular dystrophy (DMD) poses a formidable challenge, relentlessly weakening muscles and impacting lives. Families grappling with DMD’s limitations yearned for a breakthrough. In 2016, hope emerged with Exondys 51, a groundbreaking medication offering promise.

Understanding Duchenne Muscular Dystrophy

DMD, a X-linked genetic disorder, primarily affects males, robbing them of the dystrophin protein, a crucial element for muscle integrity. Without dystrophin, muscle cells become fragile and susceptible to damage, leading to progressive muscle weakness and loss of function. The condition typically manifests in early childhood, gradually robbing individuals of their ability to walk, run, and perform everyday tasks.

The Genesis of Exondys 51

Exondys 51 (Eteplirsen), developed by Sarepta Therapeutics, represents a novel approach to treating DMD, known as exon skipping therapy. It functions by targeting the dystrophin gene, specifically exon 51, which is often mutated in DMD patients. By temporarily masking exon 51, Exondys 51 allows the body to produce a shorter, but still functional, form of dystrophin.

Manufacturing Exondys 51

Exondys 51 is a manufactured oligonucleotide, a synthetic molecule that mimics the structure of DNA. It is produced through a sophisticated process involving chemical synthesis, purification, and quality control measures. The manufacturing process ensures the consistency and purity of Exondys 51, guaranteeing its safety and efficacy.

FDA Approval 

On 19^th September 2016, the U.S. Food and Drug Administration (FDA) granted Exondys 51 accelerated approval, marking a significant milestone in DMD treatment. This approval was based on clinical trials demonstrating Exondys 51’s ability to increase dystrophin production in muscle cells and improve motor function in DMD patients.

Mechanism of Action: Restoring Dystrophin Function

Exondys 51 works by selectively binding to exon 51 within the dystrophin gene, effectively masking it during the RNA processing step. This masking prevents the splicing out of exon 51, allowing the production of a shorter dystrophin protein. While this protein lacks a portion of the full dystrophin sequence, it retains some functional capacity, providing a measure of protection against muscle damage.

Benefits of Exondys 51

Clinical trials have demonstrated the potential benefits of Exondys 51 in DMD patients: 

• Increased Dystrophin Production: Studies indicate that Exondys 51 has shown the ability to increase dystrophin production in individuals with DMD.

• Improved Motor Function: The use of Exondys 51 has been associated with improvements in motor function among DMD patients.

• Slowed Decline of Muscle Strength: Research suggests that Exondys 51 may contribute to slowing down the decline of muscle strength in individuals with Duchenne Muscular Dystrophy.

• Enhanced Mobility: The benefits of Exondys 51 include the potential for enhanced mobility, allowing patients to experience improved movement capabilities.

• Increased Independence: By positively impacting muscle function, Exondys 51 may contribute to increased independence for individuals with DMD.

• Enhanced Overall Quality of Life: The observed improvements in dystrophin production, motor function, and muscle strength may collectively result in an enhanced overall quality of life for Duchenne Muscular Dystrophy patients using Exondys 51.

Side Effects and Potential Risks

As with any medication, Exondys 51 comes with potential side effects, including 

• Pain, bruising, itching, skin rash, or other irritation at the injection site
• Vomiting
• Joint pain
• Problems with balance
• Cold symptoms such as stuffy nose, sneezing, sore throat
• Headache
• Nausea
• Abdominal pain

Some patients may experience allergic reactions or infusion-related reactions. It is crucial for patients to discuss potential side effects with their healthcare provider and to be vigilant in monitoring their health during treatment.

Who Should Take Exondys 51?

Exondys 51 is approved for the treatment of DMD patients who are amenable to exon 51 skipping therapy. This means that the patient must have a specific mutation in the dystrophin gene that can be targeted by Exondys 51. Genetic testing is essential to determine if a patient is a suitable candidate for Exondys 51 therapy.

Administration and Dosage

Exondys 51 injection is administered as an intravenous infusion, typically given weekly in a healthcare setting. The dosage is calculated based on the patient’s weight. Careful monitoring during and after infusion is crucial to ensure patient safety and minimize potential side effects.

• Administer a weekly dose of 30 milligrams per kilogram of body weight as an intravenous infusion lasting 35 to 60 minutes, with necessary dilution before administration.

Application in Special Population

Exondys 51’s safety during pregnancy is uncertain; consult healthcare providers for risk-benefit discussions. Limited data on breastfeeding exist, warranting consultation for nursing individuals. Approved for those under 18, its safety in geriatric patients is unknown. Guidance for renal or hepatic patients is limited, requiring personalized healthcare provider consultations based on individual health conditions. Transparent communication about medical history is crucial for safe and effective use of Exondys 51.

Conclusion

Exondys 51 marks a pivotal stride in DMD treatment, instilling hope for patients and families. Though long-term effects warrant ongoing research, its innovation underscores progress. As the fight against DMD persists, Exondys 51 symbolizes a beacon of hope, lighting the way to a future with reduced impact and enriched possibilities for those affected.

FAQs: 

How does Exondys 51 work?

Exondys 51 increases dystrophin production, improves motor function, and slows the decline of muscle strength in DMD patients.

How should Exondys 51 (eteplirsen) be stored?

Exondys 51 should be stored under refrigeration at 2°C to 8°C (36°F to 46°F), avoiding freezing or shaking, and protected from light.

How can I buy Exondys 51 online?

The process of acquiring Exondys 51 online has become more accessible. To obtain this medication, available exclusively in the US and Europe, you can reach out to the SANSFRO team or similar companies specializing in importing medicines from these regions.

What factors determine the price of Exondys 51?

The cost of Exondys 51 varies based on product specifications and other factors. For precise pricing details, contact our Patient Support Team at ‎(+91) 93157 05373 or email us at help@sansfro.com. Our team can provide accurate and up-to-date cost information for Exondys 51 in the Indian market.

Reference: 

1. https://www.accessdata.fda.gov/drugsatfda_docs/label/2016/206488lbl.pdf 
2. https://www.drugs.com/mtm/exondys-51.html#side-effects