How sad do you feel as a mother or father when your little one has difficulty running, jumping, climbing stairs, or getting up from a sitting position? Duchenne Muscular Dystrophy (DMD) is a genetic disease that gradually weakens the muscles and mainly affects boys. Although there is still no permanent cure for this, new treatments have now been introduced to the world to control the disease and make the child's life easier. Today, we are going to talk about the gene therapy called Elevidys, which has brought such new hope.
How does this medicine called Elevidys actually work?
To understand this, let's first look at how DMD develops. Think of the muscles in our body as a strong building. To keep this building strong and not collapsing, we need a special protein called 'dystrophin'. It's like the cement that holds the bricks together in a building.
In children with DMD, due to a genetic mutation, this 'cement' called dystrophin is not produced properly. This causes the building blocks called muscles to gradually weaken and fall apart. First, the muscles in the legs and hips begin to weaken. This makes it difficult to run, jump, and climb stairs. Over time, this weakness can also affect the arms, heart, and lungs.
Elevidys is a gene therapy. Simply put, it involves delivering a short copy of a gene that contains the instructions for making dystrophin into muscle cells via a special virus (vector).
This helps the child's body produce a shorter, but more functional, form of the dystrophin protein. Doctors hope that this 'new cement' will slow down the rate at which the muscles weaken.
How is this treatment given?
This is not a daily pill. Elevidys is a once-in -a-lifetime treatment.
This is given as an infusion, like saline, into a vein. But this cannot be done at home. It is given in a hospital, under the full supervision of doctors . Because the child needs to be carefully monitored for several hours while the treatment is being given.
Before treatment, a corticosteroid-type steroid medication is started to reduce the risk of side effects. The doctor will also make sure that the child has completed all of his or her vaccinations.
What are the results of the research?
Several studies have been conducted on the effectiveness and safety of this drug. These studies have studied the differences between children who were given Elevidys and those who were not given it (placebo group). Accordingly, here are some of the main benefits that were found.
| Benefit | Simple explanation |
|---|---|
| Increased mobility (NSAA Score) | On the North Star Ambulatory Assessment (NSAA), a test that measures children's mobility, children who took Elevidys scored about 2 points higher on average than children who didn't take the medication. This means that their ability to perform daily activities improved slightly. |
| Increased dystrophin in muscles | In the research, when a small portion of the children's muscles was taken and examined (biopsy), the amount of dystrophin protein in the muscle cells of the children who received Elevidys was significantly increased. |
| Increased speed of activities | When measuring the time it takes to get up from a lying position, run 10 meters, and climb 4 stairs, children who received Elevidys were able to do these tasks a little faster. |
But remember this. Not every child will get the same results. You and your doctor should discuss the results together to determine how successful the treatment is.
Are there any cases when this treatment should not be given?
Yes, absolutely. Not all children with DMD can be given this medicine. There are some special cases where Elevidys treatment should not be given.
- Specific genetic defects: Children with certain specific defects in the gene that causes DMD (for example , deletions in exon 8 or exon 9 ) are not given this treatment. This can be detected by genetic testing before treatment.
- Elevated antibody levels: Elevidys should not be given to children who have high levels of antibodies against the virus (AAVrh74 vector) that carries it. This is because those antibodies can prevent the medicine from reaching the muscles properly and can cause serious side effects. This can also be detected early with a blood test.
- Active Infection: If the child has any infection such as fever, cold, cough, or stomach ache at the time of starting treatment, treatment will not begin until it is completely cured.
Side effects and how to manage them?
As with any treatment, Elevidys can cause side effects. The most common side effects are nausea and vomiting . These usually occur in the first few weeks. If your child has any of these symptoms, tell your doctor. They will give you medicine to help with the vomiting. It is also important to drink plenty of fluids to prevent dehydration.
In addition, it is good to be aware of other possible side effects and their symptoms.
| Side effect | Features to look out for |
|---|---|
| Fever | Fever can be a sign of an infection, so if you develop a fever, let your doctor know. |
| Low blood platelet count (Thrombocytopenia) | Platelets help blood clot when you bleed. If these are low,
|
| Effects on the liver | If the whites of the eyes or skin are turning yellow, it could be a sign of a liver problem. Your doctor will regularly check for this by doing blood tests (LFTs). |
| Effects on the heart | If you experience chest pain or difficulty breathing, it could be a sign of inflammation of the heart muscle. Tell your doctor immediately. |
The most important thing is to talk to your doctor without hesitation about any symptoms that you think are unusual.
What tests will be done before and after treatment?
Yes, because this is a complex treatment, several tests are performed to get a better understanding of the child's health condition.
- Gene tests: Confirm whether the child has DMD itself and whether there are any genetic defects that would make Elevidys ineligible.
- Antibody tests: Check the level of antibodies against the AAVrh74 virus we talked about earlier.
- Complete blood count (CBC): Check for infections or other blood abnormalities.
- Liver function tests (LFT): Monitor liver health before and after treatment.
- Heart muscle health (Troponin test): Find out if the heart has been affected.
- Blood platelet levels: Monitor for a decrease in blood platelet levels after treatment.
All of these tests are done to ensure the child's safety to the fullest extent possible.
Take-Home Message
- Elevidys is a once-in-a-lifetime gene therapy for Duchenne Muscular Dystrophy (DMD). It is not a cure for the disease, but it offers hope of slowing the rate of muscle weakness.
- It works by helping the body produce a shorter, functional form of the dystrophin protein .
- This treatment is not suitable for every child with DMD. It requires specific genetic testing and blood tests to determine eligibility.
- This treatment is given as an injection into a vein in a hospital, under medical supervision .
- Side effects such as vomiting and nausea may occur. You should also be aware of serious conditions such as low blood platelets. In case of any discomfort, tell your doctor immediately.
- This is a very complex and new treatment, so be sure to discuss all the details with your child's doctor and get them explained.
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