The excitement you feel until your child is born continues to increase until the day he/she is born. After birth, we may also experience some anxiety. There is nothing physically wrong with the child and he/she was born very healthy. However, if minor problems begin to appear in the child’s development in the future and the family does not follow these problems carefully, there may be a delay in the diagnosis of some diseases. The name of the disease that comes first in this situation is Duchenne Muscular Dystrophy (DMD). [Read More: What is Duchenne Muscular Dystrophy?]
Duchenne Muscular Dystrophy is the most common form of muscular dystrophy, affecting thousands of male children worldwide. It primarily affects boys as the problem appears in the X-chromosomes inherited from the mother. Appearing in one in every 5,000 boys, the disease is much rarer in girls, at one in 50 million. [Read More: First Girl in the World to Receive Elevidys Gene Therapy: Raniya Scott]
Early Signs of DMD
Duchenne Muscular Dystrophy (DMD) is a genetic disorder that causes progressive muscle weakness and degeneration. It primarily affects boys, although in rare cases, girls may also be affected. The early signs of DMD typically appear between the ages of 2 and 5. Here are some of the initial signs:
- Delayed walking: Children may take longer to begin walking compared to their peers.
- Difficulty running or jumping: These tasks may seem more challenging or impossible for the child, especially as they grow older.
- Children with DMD often experience frequent falls and difficulty getting up from the ground. This occurs due to weakening muscles, particularly in the lower limbs.
Learn More: How do I Know if My Child has Muscular Dystrophy?
Since DMD is a genetic disorder, there is no 100% cure; nevertheless, new research and therapeutic developments offer hope. The first step to controlling DMD if your child or someone you care about has it is to understand the disorder.
What is Muscular Dystrophy?
Muscular Dystrophy (MD) is a group of genetic disorders characterized by progressive muscle weakness and degeneration. It occurs due to defects in the genes responsible for producing proteins that are crucial for muscle function. Over time, these weakened muscles get progressively worse, leading to severe disabilities and, in some cases, death.
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy is the most common and severe form of muscular dystrophy, primarily affecting boys. It is caused by mutations in the DMD gene, which is responsible for the production of dystrophin, a protein that helps maintain muscle cell integrity. Without functional dystrophin, muscle cells break down, leading to muscle weakness.
Becker Muscular Dystrophy
Becker Muscular Dystrophy is similar to Duchenne but typically less severe. It is also caused by mutations in the DMD gene, but the mutations here lead to the production of a partially functional dystrophin rather than its complete absence.
Learn More: What are The Differences Between DMD and BMD?
Gene Therapy and Exon-Skipping
Duchenne Muscular Dystrophy (DMD) is a severe form of muscular dystrophy caused by mutations in the dystrophin gene, which leads to a lack of dystrophin, a protein necessary for muscle function. As a result, individuals with DMD experience progressive muscle weakness and degeneration, often leading to loss of mobility and early death, usually in their late teens to early twenties.
Gene Replacement: This strategy involves introducing a functional copy of the dystrophin gene into the patient’s cells. However, due to the large size of the dystrophin gene, this has proven to be challenging. Researchers have used viral vectors, such as adeno-associated viruses (AAVs), to deliver smaller versions of the dystrophin gene (mini-dystrophin) to muscle cells. The mini-dystrophin can still provide some functionality, improving muscle strength and function.
Gene Editing: Techniques like CRISPR-Cas9 are being explored to directly correct mutations in the dystrophin gene. This involves using the CRISPR system to cut the DNA at specific locations and either correct the mutation or introduce a new sequence that restores the proper function of dystrophin. [Learn More: CRISPR-Cas13 Could Accelerate Studies on RNA-Targeted Therapies]
Exon-skipping is another promising therapeutic strategy for DMD. The goal of exon-skipping is to skip over faulty exons in the dystrophin gene, allowing the production of a shortened but functional version of the dystrophin protein.
Targeted RNA Modification: In patients with certain mutations, the coding sequence of the dystrophin gene is disrupted, preventing the proper assembly of the protein. Exon-skipping drugs, such as eteplirsen and golodirsen, work by binding to specific regions of the dystrophin gene’s RNA, effectively “skipping” the faulty exon. This allows for a functional portion of the protein to be produced.
Restoring Reading Frame: By skipping a faulty exon, the protein’s reading frame is restored, which allows the production of a truncated but functional form of dystrophin. This truncated version may not be as long or as functional as the full dystrophin protein, but it is still enough to partially restore muscle function.
Exon-skipping treatments can be tailored for specific mutations. For instance, eteplirsen targets exon 51, while golodirsen targets exon 53. However, this approach is only applicable for certain mutations within the dystrophin gene, and it does not work for all DMD patients.
Learn More: What is exon skipping and how does it work?
Discover More: Which exon skipping therapy is right for my son?
Challenges of Treatment for Duchenne Muscular Dystrophy (DMD)
Research on DMD has advanced, but much more work has to be done. There are sophisticated treatments like gene therapy and exon-skipping. Specialized training is necessary for these kinds of treatments. Thus, the primary difficulties are:
- The novelty of the treatments that are now available
- The expensive price of the medications
- The absence of enough medical professionals
Serious research is being conducted in the United States, Canada, China and other developed countries for Duchenne treatments. The drugs developed in these countries will of course first be applied to children with DMD in their own countries. But what about the children in other countries? Will they be allowed to die?
Discover More: All Treatments and Researches for Duchenne
Duchenne Cost of Treatment in the World
Gene therapy and other cutting-edge exon skipping treatments cost millions of dollars worldwide.
Due to differences in healthcare systems, available treatments, and insurance coverage, the cost of treating Duchenne muscular dystrophy varies greatly between nations. It’s crucial to remember that Elevidys, the sole gene therapy medication, costs $3.2 million.
Learn More: Frequently Asked Questions About Elevidys
Families may still have to pay a sizable amount out of pocket, even though insurance may cover some of these expenditures. Let’s examine the difficulties families face in obtaining the medication worldwide:
Treatment Cost: United States
This cutting-edge treatment is very expensive in the United States. The FDA has approved Elevidys, a $3.2 million gene therapy medication, for DMD patients four years of age and older.
The US Bureau of Labor Statistics reports that the median yearly income in the nation is roughly $60,000. A family with DMD will therefore need to save up for 53 years without spending anything to access the gene therapy called Elevidys.
But most private health insurance in the United States covers DMD gene therapy and exon skipping treatments and medications.
Treatment Cost: Europe
Through their public healthcare systems, European nations including Germany, Italy, and the United Kingdom provide treatment for Duchenne muscular dystrophy. Although the sums appear to be rather acceptable, they are seven to sixteen times greater than the typical per capita health expenditures for these European nations.
In contrast, Elevydis would cost approximately 2.5 million euros, and given that the average family in the UK makes 40,000 pounds a year, it would take them almost 62.5 years to obtain the medication.
Additionally, if the average income in the other European countries is £37,900, the cost and time required for one family to arrange for the medicine is 79 years.
Elevidys has applied for marketing authorization from the EMA. If the EMA approves Elevidys, many countries in Europe will likely cover the cost of this new gene therapy. [Read More: Desperate family aim to raise £3m for miracle “one time” treatment for son, 6]
Treatment Cost: Brazil
According to a study conducted in Brazil, home care expenses accounted for a sizable amount of the median yearly cost per Duchenne patient, which was R$17,121.
Despite the availability of public healthcare services, Eleyvidis is expensive at R$19,826,880.00.
It will take 415 years for an ordinary Brazilian household earning R$48000 a year to obtain the medication.
Learn More: Elevidys has been approved in Brazil to treat children aged 4 to 7 years
Treatment Cost: Turkiye
The minimum wage in Turkiye in 2025 will be 625 USD. If only one person in a family of 4 works, the annual income will be 7500 USD. This means they will need 427 years to receive Elevidys gene therapy.
None of the FDA-approved treatments in Turkiye are covered by the state. But nearly all families of children eligible for Elevidys gene therapy are organizing campaigns to cover the cost of treatment.
Families with DMD protested in front of the Ministry of Health for nearly 2-3 weeks in September. However, their demands have not yet been met. Families with children with DMD have begun to speed up their campaigns.
DMD Associations in Turkiye and similar countries need to put pressure on pharmaceutical companies and governments with different projects. [Learn More: The Story of Aziz, DMD Warrior from Turkey]
Treatment Cost: India
For Indians with an average income of ₹200,000, it takes 1,000 years for a family to afford medicine.
The price of gene therapy in India is costly and still out of reach for the majority of Indian families, underscoring the costs of treating rare diseases.
Affordability and Ready Access
When it comes to availability and affordability, the high expense of therapy for Duchenne muscular dystrophy presents substantial hurdles on a global scale.
The exorbitant prices of gene therapies and exon skipping treatments should be reviewed immediately. Pharmaceutical companies need to review their pricing policies, contact governments and apply for licensing without delay in order to provide health to children, not their stocks.
Future Plans for the Duchenne Boys
There has never been a more optimistic outlook for kids with Duchenne Muscular Dystrophy (DMD). Innovative gene therapy, enhanced supportive care, and advanced therapy are all being made possible by groundbreaking research. With every new scientific discovery, we get one step closer to turning DMD from a fatal illness into a treatable condition that will allow our kids to flourish.
It is essential that pharmaceutical companies work with governments. However, all countries should establish funds for Duchenne muscular dystrophy (DMD) either individually or jointly. Every lost time means that children lose muscle.
Remember, beyond individual campaigns, families really need to come together and demand access to treatments.
Together, we are stronger.
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