Risdiplam, marketed under the brand name Evrysdi, is a groundbreaking oral medication specifically developed for the treatment of Spinal Muscular Atrophy (SMA). This genetic disorder primarily affects motor neurons, leading to severe muscle weakness and atrophy. Approved by the FDA in August 2020, Risdiplam is the first oral therapy for SMA, offering a more convenient alternative to existing treatments that require injections or infusions. This blog will help you understand the medication better, and we will also get into the Risdiplam cost, uses, price, mechanism of action, side effects and more.
Risdiplam Mechanism of Action
When it comes to the Risdiplam drug class, it is classified as an SMN2 Splicing Modifier. It works by enhancing the production of the survival motor neuron (SMN) protein, which is deficient in patients with SMA. Specifically, Risdiplam promotes the inclusion of exon 7 in the SMN2 pre-mRNA, thereby increasing the levels of functional SMN protein. This action is crucial because the SMN protein is essential for the health and survival of motor neurons. By improving SMN protein levels, Risdiplam helps alleviate the symptoms associated with SMA, potentially leading to better motor function and quality of life for patients.
How Do You Have Risdiplam?
Risdiplam is administered orally, making it more accessible than other SMA treatments. The medication is available in a liquid form and must be taken once daily after a meal. The dosage varies based on the patient’s age and weight:
For patients aged two months to less than two years: 0.2 mg/kg once daily.
For patients two years and older weighing less than 20 kg: 0.25 mg/kg once daily.
For patients two years and older weighing 20 kg or more: 5 mg once daily.
It is important to note that Risdiplam should not be mixed with formula or milk, and patients should ensure they take it consistently at the same time each day.
Risdiplam Uses
When it comes to Risdiplam uses, it is important to know that it is used to treat Spinal Muscular Atrophy in patients aged two months and older. Clinical studies have shown that Risdiplam is effective for various SMA types, including types 1, 2, and 3. In clinical trials, patients receiving Risdiplam demonstrated significant enhancement in motor function compared to those who did not receive treatment. This includes the ability to sit without support and improved motor scores over time, making Risdiplam a vital option for managing SMA.
Risdiplam Side Effects
1. Diarrhea
Diarrhoea is one of the most frequently reported side effects of Risdiplam. It can occur in up to 17% of patients and may vary in severity. Diarrhoea can lead to dehydration, especially in younger patients, and may require medical attention if persistent or severe. Patients are advised to stay hydrated and consult their healthcare provider if they experience significant gastrointestinal disturbances. In some cases, diarrhoea may improve as the body adjusts to the medication.
2. Fever
Fever is another common side effect, affecting up to 54% of patients during treatment. This can manifest as a mild increase in body temperature or more pronounced fever. While fever may be a normal response to the body’s immune reaction, it is important for patients to monitor their temperature and report any persistent or high fevers to their healthcare provider. Fever can also be indicative of an underlying infection, which may require further evaluation.
3. Rash
Risdiplam can cause various skin reactions, including rash, which has been reported in up to 17% of patients. The rash may present as a maculopapular rash, dermatitis, or allergic reactions. In most cases, these rashes are mild and resolve over time. However, if a rash appears along with other symptoms, such as difficulty breathing or oedema, immediate medical attention is necessary as it may indicate an allergic reaction.
4. Fatigue
Fatigue is a common and non-specific side effect that can affect patients taking Risdiplam. It may be related to the body’s adjustment to the medication or the underlying condition of SMA itself. Patients experiencing excessive fatigue should discuss their symptoms with their healthcare provider, as this would affect their quality of life and ability to engage in daily activities. Managing fatigue may involve lifestyle adjustments, including adequate rest and nutrition.
5. Respiratory Infections
Respiratory infections, including upper respiratory tract infections, are frequently reported in patients taking Risdiplam. These infections could lead to symptoms such as cough, nasal congestion, and difficulty breathing. In clinical trials, respiratory infections were reported in a significant number of patients, with some experiencing pneumonia. Patients should be vigilant for signs of respiratory distress and seek medical attention if they experience worsening symptoms or difficulty breathing.
While most side effects are mild to moderate, patients should be observed for any reactions, especially during the initial stages of treatment. Additionally, there are potential risks associated with Risdiplam, including effects on male fertility and fetal harm in pregnant women. Therefore, it is essential for patients to discuss any concerns with their healthcare provider.
Preventive Measures To Be Taken
Patients prescribed Risdiplam should follow certain preventive measures to ensure safe and effective treatment:
- Regular Monitoring: Patients should have regular follow-ups to check their response to the medication and any potential side effects.
- Counselling on Pregnancy: Women of childbearing age should discuss contraceptive options and pregnancy plans with their healthcare provider before starting Risdiplam.
- Dietary Considerations: Risdiplam should be taken after meals to enhance absorption, and it should not be mixed with formula or milk.
Efficacy of Risdiplam
The efficacy of Risdiplam has been demonstrated in several clinical trials. In the FIREFISH trial, infants treated with Risdiplam showed significant improvements in motor function, with many achieving developmental milestones not typically seen in untreated patients. Similarly, the SUNFISH trial confirmed that patients aged 2-25 years with SMA types 2 or 3 experienced meaningful improvements in motor function scores. These results highlight Risdiplam’s potential as a transformative treatment option for individuals with SMA.
Risdiplam Price in India
Risdiplam price can be a significant concern for patients and their families. In the United States, Risdiplam is priced at approximately $340,000 per year, which can be a barrier to access for many patients. However, Risdiplam is expected to be substantially cheaper than other available SMA therapies, making it a more accessible option.
The Risdiplam price in India is generally lower, but it can still vary depending on the pharmacy and location. Patients should check with local pharmacies for the Risdiplam cost in India and explore potential financial assistance programs that may be available to help mitigate costs.
Note: For personalised advice and the most current details, contact your healthcare professional or the Risdiplam manufacturer.
Risdiplam and Long-Term Outcomes
While Risdiplam has shown promising results in clinical trials, ongoing research evaluates its long-term effects. Researchers are studying how Risdiplam can impact the overall quality of life for patients with SMA, including their ability to achieve milestones such as walking, talking, and breathing independently. Additionally, studies are exploring the potential benefits of early intervention with Risdiplam, especially for infants with SMA type 1.
As more data becomes available, it will help us better understand the long-term benefits as well as risks associated with the medication. This information can help patients and their families make informed decisions about their healthcare options.
Conclusion
Risdiplam (Evrysdi) represents a significant advancement in the treatment of Spinal Muscular Atrophy, offering a novel oral therapy that enhances the production of essential SMN protein. Its unique mechanism of action, ease of administration, and demonstrated efficacy make it a great option for patients with SMA.
While the rising cost may pose challenges, ongoing efforts to improve access and affordability are crucial for ensuring that all patients can benefit from this innovative treatment. As research explores the long-term effects and potential benefits of Risdiplam, it stands as a beacon of hope for individuals and families plagued by Spinal Muscular Atrophy.
The Risdiplam price in India can be prohibitively high, but medical crowdfunding has emerged as a promising solution to help patients access this life-changing medication. Platforms like Ketto, an Indian crowdfunding platform, help patients and their loved ones raise funds for their medical treatments online. Ketto allows users to create personalised fundraising campaigns, share their stories, and reach out to their communities for support. Ketto has established itself as a trusted platform for medical crowdfunding, helping individuals raise funds for various causes, including expensive treatments like Risdiplam.
The platform’s user-friendly interface streamlines the campaign creation process. People can contribute directly to the campaign, fostering a sense of community and shared purpose. Additionally, Ketto supports a wide range of payment options, making it accessible for contributors from different backgrounds.
As the Risdiplam cost remains a significant barrier for many families, crowdfunding through platforms like Ketto helps people, regardless of their financial or economic background, get access to life-saving treatments. By sharing their stories and mobilising support, patients can overcome financial hurdles and focus on what truly matters: their health and well-being. Crowdfunding not only provides a viable financial solution but also strengthens community ties, illustrating the collective effort to support those affected by Spinal Muscular Atrophy.
Disclaimer: This article is intended to provide information about Risdiplam, but it cannot replace the advice of a qualified medical professional. Please consult with a doctor for personalised guidance.
