A genetic condition known as Duchenne muscular dystrophy (DMD) results in gradual muscle weakening. Boys are more likely to have DMD, with symptoms first appearing in early childhood. DMD has no known treatment. Medical professionals use physical therapy, steroids, and assistive technology (wheelchairs, braces, etc.) to treat symptoms. Targeting the aberrant gene, new medications are being researched to help reduce the progression of DMD. A newly developed gene therapy medication called Elevidys helps maintain muscular strength in people with DMD. [Read more: What is Duchenne Muscular Dystrophy?]
Under the FDA’s expedited approval procedure, which authorizes drugs for illnesses where they are critically needed based on evidence indicating a high likelihood of providing clinical benefits, Elevidys was authorized in 2023. Following that approval, the medication has been keenly watched. Results from a confirmatory trial were published in October by Sarepta Therapeutics, indicating that while the medicine did not meet its primary objective of improving children’s mobility, it did well on several secondary metrics.
In 2024, the FDA said that Elevidys had received traditional approval for ambulatory individuals 4 years of age and older with a verified mutation in the DMD gene, and accelerated approval for non-ambulatory individuals 4 years of age and older with the same mutation. According to the EPA, there is insufficient data on safety to justify its usage in children younger than four.
Things to Know About Elevidys
Cost of Elevidys Gene Therapy
One of the priciest medications on the planet, elevidys costs around $2,91 million per patient when administered as a single intravenous infusion. The fact that the drug, which does not completely eliminate Duchenne Muscular Dystrophy, is so expensive stresses families because it does not seem possible for families to cover such a large cost.
Moreover, it is known that Sarepta has not yet applied for a license for gene therapy in many countries.
Even if families with children with Duchenne Muscular Dystrophy somehow manage to cover the cost, they are forced to travel to countries like the USA or Dubai. Families who have to stay abroad for 3-4 months for treatment are also crushed under the weight of additional travel expenses.
It doesn’t end there! Families also need to go to the USA or Dubai for 1 or 2 days to perform the Antibody test to see if the Elevidys gene therapy is suitable for their children.
Except for some insurance companies in the US, Elevidys is not free in any other country. Families do not want to wait for their children to die.
How Does Elevidys Work?
Dystrophin is a protein that is necessary for muscles to function properly and maintain their strength. A hereditary mutation that results in the body producing this protein incorrectly is the cause of DMD. A mutation is an error in the code that the body employs to build its components. Muscles gradually deteriorate if dystrophin levels are too low. Starting with the legs and pelvis, there is weakness. It is difficult to run, climb stairs, or get off the ground as a result. DMD can eventually impact your heart, lungs, and arms.
DMD is a progressive condition that is typically identified in young infants. This indicates that as the child gets older, the symptoms become more apparent. Since DMD has no known cure, medical professionals use medication to treat the symptoms and physical therapy to maintain strong muscles.
Novel therapeutics have been licensed to address particular regions of these genetic errors or to supply the muscle cells directly with a dystrophin protein analogous to that found in the body. This enables the body to begin producing a dystrophin protein that is comparable. More dystrophin allows the muscles to maintain their strength over time.
One of these medications, commonly known as gene therapy, is called Elevidys. Elevidys delivers a dystrophin protein variant to the muscle cells via a unique virus known as a vector. It aids in the body’s synthesis of a truncated form of the dystrophin protein, which may impede the disease’s advancement.
How Should I Use This Medicine?
Elevidys is an isolated, one-time intervention. A healthcare professional administers it as an infusion, which is a direct vein delivery of the medication. In order to ensure close monitoring, the infusion is administered at a hospital. The procedure of infusion may require several hours. To ensure you are prepared for the infusion, your healthcare professional may do blood tests before to the procedure.
To help avoid infusion-related adverse effects, your healthcare provider will begin administering a corticosteroid medication. Before beginning Elevydis, make sure all of your vaccinations are current.
How Was It Studied for DMD?
The effectiveness and safety of Elevidys for the treatment of DMD have been examined in three studies. A placebo-controlled design, used in studies 1 and 3, allows researchers to compare the effects of a therapy to no treatment in order to see any changes in benefit or harm. Individuals in the study with particular gene mutations were diagnosed with DMD. All of the research shared the same information.
All of the patients (100%) were male, ranging in age from 4 to 8 years, with an average age of 6 years and an average weight of 22,6 kg.
The research found that 76% of the participants getting Elevidys were White, while 12% identified as Asian, 7% as other, 2% as African American or Black, 2% as “not reported,” and 1% as mixed racial groups. Before receiving the infusion, every participant in the study took a corticosteroid medication, and their antibody levels were below the threshold that was found to be safer for the Elevidys infusion.
In the first study’s two phases, participants got a single infusion of either a placebo or Elevidys. There was no medication present in the placebo infusion. For 48 weeks, the participants were watched for changes and adverse consequences. Following the first 48 weeks of the trial, participants were randomized to receive either placebo or Elevidys, which was the reverse of what they had gotten during the first phase. Everyone in the study was ambulatory, or able to walk on their own without assistance.
Every participant in trial 2 received an Elevidys. No placebo was present. Just 17% of the participants were non-ambulatory, meaning they were no longer able to walk on their own.
In research 3, participants were given an Elevidys or a placebo infusion.
Elevidys’ efficacy in the research was determined by analyzing alterations in the NSAA (North Star Ambulatory Assessment) score and/or the amount of micro-dystrophin proteins present in the skeletal muscles. A test called NSAA is used to gauge how well a person with DMD can move and do daily tasks. A score of 34 is the highest possible. A lower score indicates a person with weak muscular health or limited movement.
Across all trials, the average NSAA score was between 21 and 23, indicating some movement limitations but still being able to perform most everyday activities. More findings measured movement capacity by timing tasks such as sprinting or walking a certain distance, climbing four flights of stairs, and getting up from a horizontal position.
Does Elevidys work?
We are trying to reach out to the families of children who have received Elevidys gene therapy. We reached out to some of them and asked them to share with us their experiences before and after the therapy.
Families of children who received Elevidys gene therapy report a noticeable difference in their children. They say that children who had difficulty climbing stairs can now overcome obstacles quickly and without support.
However, the biggest concern for families is how long gene therapy will remain effective.
A review of Elevidys in the Washington Post newspaper expressed hesitations about gene therapy.
“A follow-up randomized trial of 125 patients was designed to show that this change was meaningful and that the therapy could improve patients’ scores on a 34-point scale called the North Star Ambulatory Assessment. [Source: Sarepta] But the drug did not demonstrate a clear benefit for patients in this randomized trial: While the gene therapy group’s scores improved on average by 2.57 points, the placebo group’s scores improved by 1.92 points, which was not statistically different.” [Read more: Washington Post]
Which Advantages Were Found in the Research?
In the studies, people who took Elevidys experienced improvements in their timed movements, increases in dystrophin levels in their muscles, and improvements in their NSAA scores. This indicates that, in comparison to those who received a placebo, their muscles were slightly stronger and they were able to move more freely.
Variation in NSAA ratings. At the conclusion of the experiments, the NSAA scores of those who took Elevidys improved by an average of two points, while those who got a placebo had a slight decline in scores. This indicates that Elevidys enhanced their muscle mass, facilitating more effortless mobility during their everyday routines. The younger children (ages 4-7) who got Elevidys showed a larger change in their scores.
Dystrophin proteins have changed. Elevidys stimulates the body to produce natural dystrophin by delivering a form of the dystrophin protein. The quantity of dystrophin in the muscle cells rose in two investigations. The values were consistent with those of healthy muscles. This suggests that a higher level of dystrophin in the muscle cells may shield the muscles from additional harm. To find out how long this effect would persist, more research is required.
The results of the study showed that those taking Elevidys showed improvements in timing for these activities compared to those taking a placebo. Those taking Elevidys were able to do these exercises slightly faster. More research is needed to find out how long this effect lasts.
It is possible that your results may not match the results of the clinical trials. Whether the benefits outweigh the potential risks will be determined at a later date.
When Will the Medicine Start Working?
It can take several years to observe Elevidys’ advantages. Muscle strength may gradually increase when the body begins to produce dystrophin for the muscles. Your ability to walk, climb stairs, and get up off the ground may noticeably improve. Monitoring your development and discussing it with your healthcare practitioner are crucial. If you don’t notice any improvements, get in touch with your doctor.
Are There Reasons This Medicine Should Not Be Used?
If you have certain genetic mutations, such as any deletion of exon 8 or exon 9 in the DMD gene, you shouldn’t use elevidys. A screening for these particular genetic alterations may be performed by your healthcare practitioner prior to prescribing Elevidys.
Elevidys vector AAVrh74 antibodies can be highly immunogenic, hence some people may not be able to utilize Elevidys. These antibodies have the potential to seriously impair Elevidys’ ability to reach muscle cells. Before beginning the infusion, your healthcare professional might do a blood test to determine the quantity of antibodies. Elevidys shouldn’t be used if the antibody count is excessively high.
If you have an active illness, such as the common cold, the flu, the stomach flu, an ear infection, or a lung infection, the corticosteroid administered before and after Elevidys infusions may produce serious side effects. If you have an ongoing infection, you shouldn’t start the Elevidys infusion or the corticosteroid medication. If you have any of the following infection signs, let your doctor know:
- Fever or chills
- Body aches
- Coughing or trouble breathing
- Tiredness
- Sneezing
- Runny nose
- Sore throat
What Monitoring or Blood Tests Might I Need?
In order to monitor your health prior to the infusion and determine how your body reacts to the medication, your healthcare professional may order laboratory tests. Important components of that monitoring are the following.
Genetic testing. Before prescribing Elevidys, your doctor could do a blood test to check for the dystrophin gene. Additionally, they will check for certain mutations to determine whether Elevidys should be taken or not.
Antibodies to the vector of Elevidys. To determine the quantity of antibodies to the Elevidys vector (AAVrh74) in your blood, your doctor may do a blood test. This aids in determining the appropriate dosage and checks for any potential safety issues.
Infections. If you are infected, you should not start Elevidys. A blood test called a complete blood count (CBC) can be used to look for infections or other blood conditions.
Liver wellness. Your doctor might decide to postpone to start Elevidys until your liver issues are resolved if you have active liver disease or if you have yellowing of the skin or the whites of your eyes. Liver damage is detected via a liver function test (LFT). Your healthcare practitioner will review these tests following the infusion to monitor for any adverse effects on the liver.
Heart muscle wellness. Inflammation brought on by DMD has the potential to harm cardiac muscle cells. An intracellular protein known as troponin is released into your bloodstream by injured cardiac muscle cells. Before and after administering Elevidys, your doctor may measure your troponin levels to keep an eye on the condition of your heart muscle. If you have breathlessness or chest pain, it’s possible that your heart is inflamed and you should speak with your doctor.
Platelet counts. Your platelet count may drop if you have elevated symptoms. Platelets may be checked by your healthcare professional both prior to and following Elevidys infusion.
What Types of Interactions Can Happen?
Your healthcare professional will go over your vaccination history before beginning the corticosteroid medication prior to the Elevidys infusion. Because corticosteroids decrease the immune system, they may have an impact on how the body reacts to a vaccination. Any necessary vaccinations ought to be administered at least four weeks before corticosteroid medication is started.
The list of medications that could interact with Elevidys is not exhaustive. Inform your doctor or pharmacist about all of the prescription and over-the-counter (OTC) medications, vitamins, minerals, herbal remedies, and other supplements you currently use or have taken in the past. This will assist them in figuring out whether there are any interactions or whether your dosage needs to be changed.
Frequently Asked Questions About Elevidys
Some of the questions families are most curious about are how effective Elevidys gene therapy will be and how to reduce its costs. Here are some of the questions we receive from families:
Is Sarepta aware that the cost of this gene therapy is not covered in many countries?
As far as we know, the only country where gene therapy is currently covered by private health insurance is the USA. Will children of families living in other countries be expected to die?
Why is the cost of Elevidys treatment not reduced?
Of course, every product will have a cost. The low number of children with Duchenne disease increases drug costs. We are aware of this! So will children of families who will never be able to afford these costs be left to die? I would like to ask this to the decision-makers in the pharmaceutical company!
Elevidys should review its pricing policy! Why is it so expensive?
In some countries, purchasing power may be high or insurance companies may cover it. But what will families in countries with high inflation and low purchasing power do?
Sarepta must decide between money and the children’s lives?
Sarepta must decide between money and children’s lives? Share data with countries, explain that gene therapy works, and create multiple payment options!
Has Sarepta applied for regulatory approval for Elevidys?
Sarepta has announced an EMA application for Elevidys, but what is being done for children in other countries?
Why is antibody testing only available in the United States?
Is it not possible to make laboratory agreements for a simple antibody test? Is it fair to stress families out over antibody testing when gene therapy is so costly?
If the Elevidys gene therapy doesn’t work, will Sarepta reimburse patients for the cost of the drug?
An example of this was announced by Bluebird. The company will offer an up to 80% refund if the treatment, sold as Zynteglo, doesn’t work as expected. [Source: BlueBird]
After receiving Elevidys gene therapy, if its effectiveness decreases or stops completely, can a second therapy be administered? Will the cost of this be covered free of charge?
Families who can afford such a high cost or who have saved money through fundraising are most curious about this.
