Picture a little boy bursting with energy, exploring the world with curiosity. Now, imagine watching that same child gradually lose the ability to walk, run, and play. That’s the harsh reality of Duchenne Muscular Dystrophy Treatment or DMD, a progressive muscular condition that begins in early childhood. By their early teens, most Duchenne boys become wheelchair-bound.

This was just a ‘life’ example. It is also important to note that Duchenne Muscular Dystrophy is not only life-altering but also life-shortening.

What Is Duchenne Muscular Dystrophy/DMD

Duchenne Muscular Dystrophy (DMD) is a genetic disorder caused by changes (mutation) in the gene responsible for giving instructions to a protein called dystrophin. 

What is Dystrophin?

Dystrophin is a critical component of the dystrophin-glycoprotein complex (DGC) protein that maintains the structural integrity of muscle cells. Both dystrophin and DGC are made of exons.

In boys with Duchenne Muscular Dystrophy (DMD), due to exon deletion in dystrophin and DGC proteins, muscle cells wear out and die (necrosis). 

With less than 5% of optimum dystrophin levels at birth, Duchenne boys lose body function over time, making walking, climbing, or doing everyday things difficult. Even breathing and the heart rate are compromised as the body needs muscles to maintain every body function.

Read More – What Is Becker Muscular Dystrophy (BMD)?

Why Duchenne Muscular Dystrophy Affects Boys/ Male Child

Duchenne Muscular Dystrophy (DMD) is an X-chromosome-linked disorder. Boys are born with XY chromosomes. Boys/ male children inherit the X chromosomes from the mothers and Y chromosomes from the fathers.

As the mutation in dystrophin and DGC protein comes from the X chromosomes, a boy child inherits the mutation at conception and is born with exons missing from dystrophin. 

While girls inherit X chromosomes from the mother and X chromosomes from the father, even if there is a mutation in the X chromosome inherited from the mother, the girl child doesn’t suffer from severe complexities. She becomes the carrier of Duchenne Muscular Dystrophy (DMD) for the next generation. 

Treatment for Duchenne Muscular Dystrophy

Recently, the FDA has approved 4 drugs to treat Duchenne Muscular Dystrophy (DMD) that use exon skipping therapy: Exondys 51, Vyondys 53, and Amondys 45 from Sarepta Therapeutics, and Viltepso from NS Pharma.

In June 2023, the FDA approved Elevidys from Sarepta Therapeutics, the first-of-its-kind, gene replacement therapy drug.

Gene Replacement Therapy with Elevidys

Elevidys is a new gene replacement therapy that can help slow down the effects of Duchenne Muscular Dystrophy (DMD). It costs approximately ₹29 crore but gives families a chance to hold on to hope of a better future for their son(s).

Elevidys works by targeting the specific genetic mutations that cause Duchenne Muscular Dystrophy (DMD). The drug helps produce a partially functional version of dystrophin – a key protein for muscle strength. While it’s not a cure, it’s a step forward, potentially giving families the precious time they thought they’d lost with their child.
Also, this is a one-time drug that can be given to boys who are at least 4 years old and have a confirmed mutation in the Duchenne Muscular Dystrophy (DMD) gene. 

Elevidys Cost And Availability

Elevidys, developed by Sarepta Therapeutics, received approval from the U.S. Food and Drug Administration (FDA) in June 2023. The U.S. drug is imported to India for pediatric patients aged 4 years and older with a confirmed mutation in the DMD gene. However, here’s the critical part: Elevidys comes with a hefty price of ₹29 crore, approximately.

In addition to Elevidys’ whopping cost, there is also the issue of its availability. While a one-week estimate might be optimistic, actual timelines could vary based on regulatory approvals, customs procedures, and other factors.

Elevidys is administered only once in a lifetime. It creates a partially functioning replacement gene (dystrophin).

Exon Skipping Therapy

Exon-skipping therapy allows cells to skip faulty/mutated sections of the genetic code (exon). It has emerged as another promising treatment choice. Patients with specific genetic mutations, particularly those with exon deletions, find meaningful improvement in muscle function through this therapy. Exon-skipping also slows disease progression.

Exon-skipping therapy involves intravenous infusions (IV) that need weekly administration.

How Exon Skipping Therapy Works

Imagine the Duchenne Muscular Dystrophy (DMD) gene as a long train with many bogies each carrying elements that produce dystrophin. If the connection (exons) between the bogies is damaged or missing, only a part of the train will reach its destination or derail. An engineer can fix the problem by skipping the faulty connectors. The train would then reach its destination, even with a few bogies missing.

Exon-skipping therapy takes on the same approach. The treatment allows the muscle cells to skip a defective set of exons. While as in the train’s example, skipping the faulty bits might not be perfect, the therapy can still deliver most of the dystrophin to the Duchenne boy, and improve his muscle function.

Exon-skipping therapy is a life-long treatment plan for Duchenne Muscular Dystrophy boys.

Doctors For Duchenne Muscular Dystrophy

The Indian Association of Muscular Dystrophy (IAMD) is a registered society that works in the field of muscular dystrophy and is spreading the word about the seriousness, rarity, and fatality of Duchenne Muscular Dystrophy (DMD) along with the possible/available treatment.
For early diagnosis and medical care after diagnosis, families must seek the best hospitals for Duchenne Muscular Dystrophy (DMD) in India that have experienced specialists.

The treatment of Duchenne Muscular Dystrophy (DMD) requires a multidisciplinary approach led by experienced specialists in 

• Neurology– A neurologist is a medical specialist who diagnoses and treats disorders affecting the brain, spinal cord, peripheral nerves, and muscles.
• Paediatrics – A paediatrician is a doctor who treats newborns, children, adolescents and young adults.
• Orthopaedics – An orthopedist treats injuries and diseases of muscles, bones, joints, ligaments, and tendons.
• Pulmonology – A pulmonologist treats breathing problems and lung conditions.
• Physiotherapy – A physiotherapist is a specialist who helps people recover from injuries, reduce pain, and improve movement through exercises and stretches.
• Occupational therapy – An occupational therapist helps people build skills and adapt to handle daily activities, like school, work, or hobbies, especially when they have challenges from an injury, illness, or disability.
• Medical genetics– A medical geneticist is a doctor who specializes in diagnosing and treating genetic disorders or conditions.

The best hospitals for Duchenne Muscular Dystrophy in India

The best hospitals for Duchenne Muscular Dystrophy (DMD) in India cover every aspect of Duchenne Muscular Dystrophy (DMD), guiding the child, the family and the caregivers, supporting them through treatment and counselling, sharing medical updates/research findings, guiding the family to choose the right kind of therapy for the child and making the treatment accessible for him. 

It becomes the duty of the team of medical experts to make the family aware of how to access gene therapy for Duchenne in India.

With medical advances in the country, several health centres are committed to treating Duchenne muscular dystrophy. 

• Apollo Hospitals 
• Max Hospitals
• Medicover Hospitals 
• Elantis Hospital 
• Manipal Hospital Delhi
• BGS Gleneagles Global Hospitals
• BLK-Max Super Speciality Hospital
• Ruby Hall Clinic
• Fortis Malar Hospital Adyar Chennai
• Rainbow Children’s Hospital
• MIOT International
• NeuroGen Hospital

As discussed before, gene replacement therapy and exon-skipping therapy are the main treatments for Duchenne Muscular Dystrophy (DMD). They slow the onset and progression of this rare condition.

Although both Elevidys and exon-skipping have brought hope to patients with Duchenne Muscular Dystrophy (DMD), the cost of both gene replacement therapy with Elevidys and exon-skipping with Exondys 51, Vyondys 53, Amondys 45, and Viltepso is an expensive affair. 

For the DMD-affected families, the journey to Duchenne Muscular Dystrophy (DMD) gene therapy is tough but not impossible. Patient advocacy groups, such as Duchenne Muscular Dystrophy (DMD) support organisations, are stepping in with financial assistance and guidance.

On top of the high cost, getting these drugs can also be a struggle. Since they’re imported from the U.S.A. they must go through customs checks and other procedures. 

Government healthcare schemes exist but there is a lack of awareness. This blog attempts to decode DMD for families in India and show them some light in the dark.

Fundraising for Duchenne Muscular Dystrophy

Most families cannot wrap their heads around the massive funds’ requirement for Elevidys and exon skipping therapy, let alone afford it.

That is why fundraising has become critical for families facing the staggering costs of Duchenne Muscular Dystrophy (DMD) treatments like Elevidys and exon-skipping therapies. With treatment costs ranging into crores of rupees, many families find themselves in a seemingly impossible financial situation.

These aren’t just medical expenses, they’re dreams hanging in the balance. A single treatment could cost more than what most families will earn in their entire lifetime. 

That is where crowdfunding platforms like ImpactGuru come in and make fundraising for DMD treatment a vital pathway for families to access life-changing treatment.

What is crowdfunding?

Crowdfunding is the magic where people known to the campaigner or unknown to them, donate to their cause on an online platform because the cause resonates with them. The more the number of donors and social media shares, the sooner the goal amount is reached. 

Crowdfunding is heaven-sent when it comes to medical fundraising where families may lack sufficient funds or may have exhausted their savings while catering to their loved ones’ treatment. So, when a loved one’s life is on the line, crowdfunding on a reputed online platform like ImpactGuru can prove helpful.

ImpactGuru is the crowdfunding platform in India that has emerged as a crucial medium for families raising crores worth of treatment for rare illnesses like DMD. Here’s how families can effectively use ImpactGuru to raise funds for DMD treatment:

How can you start a fundraiser with ImpactGuru?

1. Visit ImpactGuru’s website and select the ‘Start a fundraiser’ option.
2. Create a detailed profile by filling in your details and explaining the child’s condition.
3. Set a fundraising goal based on treatment costs.
4. Upload medical reports and treatment.
5. Add high-quality, emotional photographs.

Fundraising Strategies

• Share the fundraiser on social media platforms.
• Engage family, friends, and networks.
• Give updates for the fundraiser regularly with the child’s progress and treatment journey.

Benefits of starting a fundraiser with ImpactGuru

• ImpactGuru’s platform provides tax benefits for donors.
• Offers secure payment gateways and multiple payment methods.
• Provides support in campaign management.

More To Know –

Here are some of the drugs that were approved recently –

• Amondys 45: Approved in February 2021 for patients amenable to exon 45 skipping.  
• Viltepso: Approved in August 2020 for patients amenable to exon 53 skipping.  
• Vyondys 53: Approved in December 2019 for patients amenable to exon 53 skipping.
• Exondys 51: Approved in September 2016 for patients amenable to exon 51 skipping.

According to the Ministry of Health and Family Welfare, Government of India, based on the current prices of these drugs and the patient’s weight, the cost of treatment with these newer disease-specific therapies can range from approximately ₹5 to ₹10 crores per year.

Research Source:

Duchenne Muscular Dystrophy (DMD)

PTC Therapeutics

Duchenne muscular dystrophy

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