What do you need to know about DMD care?
Duchenne Muscular Dystrophy Care Considerations. Duchenne muscular dystrophy (DMD) is a rare genetic (inherited) disease defined by muscle weakness that gets worse over time and ultimately affects the heart and lungs. People born with DMD will see many healthcare providers throughout their lives.
Which medications are approved by the FDA for the treatment of Duchenne muscular dystrophy?
The medications below have been approved by the FDA for the treatment of Duchenne muscular dystrophy: Amondys 45 is an antisense oligonucleotide for the treatment of patients with Duchenne muscular dystrophy (DMD) who have genetic mutations that are amenable to skipping exon 45 of the Duchenne gene.
What does the FDA’s approval of amondys 45 mean for DMD patients?
“Today’s approval of Amondys 45 provides a targeted treatment option for Duchenne muscular dystrophy patients with this confirmed mutation.” DMD is a rare genetic disorder characterized by progressive muscle deterioration and weakness.
What's new in the DMD supplement?
The supplement provides new resources, including a toolkit to help individuals with DMD transition into adult medical care. These articles and resources can help families and providers manage DMD care. Also included is an article on evaluation of the care considerations, with key elements of care that clinics can measure.
What treatments are available for DMD?
Corticosteroids: prednisone and deflazacort. Glucocorticoids, more precisely prednisone and deflazacort, are the main drug treatment for DMD. They have been used for over two decades and the benefits are well known now. They are the only medication that has been shown to increase muscular strength.
Is Gene Therapy Used for DMD?
So far, there is no effective treatment for deteriorating muscle function in DMD patients. A promising approach for treating this life-threatening disease is gene transfer to restore dystrophin expression using a safe, non-pathogenic viral vector called adeno-associated viral (AAV) vector.
Do people with DMD do physical therapy?
A physical therapy program is usually part of the treatment for DMD. Your MDA Care Center physician will refer you to a physical therapist for a thorough evaluation and recommendations. The primary goals of physical therapy are to allow greater motion in the joints and to prevent contractures and scoliosis.
Why is there no cure for DMD?
There is currently no cure for the disease, and patients with DMD have an average life expectancy of just 26 years old. A mutation in the dystrophin gene, which is important for maintaining muscle fibers, causes DMD. Muscle fibers in people with DMD are highly susceptible to injury and are also unable to regenerate.
Can muscular dystrophy be cured by gene therapy?
So far, there is no effective treatment but new gene-based therapies are currently being developed with particular noted advances in using conventional gene replacement strategies, RNA-based approaches, or cell-based gene therapy with a main focus on Duchenne muscular dystrophy (DMD).
Can Crispr cure muscular dystrophy?
Using an advanced gene editing technology called CRISPR, our team of scientists at UT Southwestern has been able to stop the progression of Duchenne muscular dystrophy in animals and human cells – a breakthrough that could ultimately change the prognosis for the most common fatal genetic disease in boys.
What happens in DMD?
DMD is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve additional muscles of the body.
Does physical therapy work for muscular dystrophy?
Physical therapists help children with muscular dystrophy maintain function by managing complications of the disorder's progression, such as muscle weakness and contractures. Each child with muscular dystrophy has unique needs based on age, the type of dystrophy, and the progression of symptoms.
What does Duchenne muscular dystrophy do?
Duchenne [doo-SHEN] muscular dystrophy (DMD) is a rare genetic condition that weakens your child's muscles. It is the most common muscular dystrophy, a kind of inherited muscle disease. DMD causes weakness and muscle loss that spreads throughout your child's body.
What are the FDA approved drugs for Duchenne muscular dystrophy DMD )?
The new drugs approved by the FDA for the treatment of Duchenne muscular dystrophy (DMD) are:Amondys 45 (casimersen)Viltepso (viltolarsen)Vyondys 53 (golodirsen)Exondys 51 (eteplirsen)Emflaza (deflazacort)
Does stem cell therapy work for muscular dystrophy?
Stem cell based therapies. Stem cell based therapy is considered to be one of the most promising methods for treating muscular dystrophies. Stem cells are defined by certain features and, foremost, an ability for long-term self-renewal and the capacity to differentiate into multiple cell lineages.
Can you cure DMD by repairing single cell?
If we found a way to repair a single cell with the DMD gene in a 2-year old child, could we cure DMD by repairing that single cell? No because every cell will have that gene and you can't change a gene that was inherited from your parents.
What gene is mutated in Duchenne muscular dystrophy?
DMD is caused by changes (mutations) of the DMD gene on the X chromosome. The gene regulates the production of a protein called dystrophin that is found in association with the inner side of the membrane of skeletal and cardiac muscle cells.
How is DMD diagnosed?
Diagnosis of DMD is based on the symptoms, clinical exam, and the result of a biopsy to remove a small piece of muscle for examination under a microscope. The result of genetic testing may also help confirm the diagnosis.
What type of therapy is Eteplirsen?
Eteplirsen is an exon-skipping therapeutic. Notes: Eteplirsen (green bar) specifically recognizes exon 51 of the DMD gene.
How Does gene therapy work?
With gene therapy, doctors deliver a healthy copy of a gene to cells inside the body. This healthy gene may replace a damaged (mutated) gene, inactivate a mutated gene or introduce an entirely new gene. Carriers, called vectors, transport these healthy genes into cells.
What is the best treatment for MD?
Drug Therapy. Certain medications can help delay damage to muscles or minimize the symptoms of MD. These can include the following: Glucocorticoids 4, 5 such as prednisone or deflazacort , which was approved by the U.S. Food and Drug Administration (FDA) for treating DMD in 2017.
Why do MD patients have difficulty breathing?
Respiratory Therapy. Because the body relies on muscles such as the diaphragm to breathe, weakened muscles from MD may affect breathing. Many people with MD do not realize they have lost respiratory strength until they have difficulty coughing or an infection leads to pneumonia.
How to help MD with facial weakness?
MD patients who experience weakness in the facial and throat muscles may benefit from speech therapy to teach them how to maximize their muscle strength. Some methods include slowing the pace of their speech, pausing more between breaths, 3 and using specialized communication equipment.
Does exon skipping cure DMD?
In exon skipping, more muscle protein is available and usable, even though it is shorter than the normal protein. FDA approved eteplirsen for treatment of DMD in 2016, 8 golodirsen in 2019, 9 and viltolarsen in 2020. 10 These treatments require weekly intravenous injection and do not cure DMD.
Duchenne Muscular Dystrophy: Our Approach to Care
We take a comprehensive approach to caring for children with Duchenne muscular dystrophy. Each child's symptoms and treatment needs are unique, and we tailor our care plan to address your child's specific situation.
Duchenne Muscular Dystrophy Treatment at Stanford
The Neuromuscular Program at Stanford provides comprehensive care in one location for Duchenne muscular dystrophy patients.
Duchenne Muscular Dystrophy Clinical Trials
Stanford investigators are participating in studies to increase their understanding of genes that may cause Duchenne muscular dystrophy and to investigate new treatment approaches for DMD.
Who develops care considerations based on current evidence for optimal care reported in the literature and their own clinical experiences?
Clinicians who specialize in treating people with DMD developed these care considerations based on current evidence for optimal care reported in the literature and their own clinical experiences.
What is the disease of Duchenne muscular dystrophy?
Duchenne muscular dystrophy (DMD) is a rare genetic (inherited) disease defined by muscle weakness that gets worse over time and ultimately affects the heart and lungs. People born with DMD will see many healthcare providers throughout their lives.
What is the Pediatrics Supplement?
The Pediatrics supplement, also funded by the CDC, is a set of 13 articles that expands on the clinical care for each subspecialty outlined in the Lancet Neurology articles. The supplement provides new resources, including a toolkit to help individuals with DMD transition into adult medical care.
What is the cause of DMD?
DMD is caused by mutations in the DMD gene. When a gene exon is missing (for example, exon 51 or 53), cells do not have the proper instructions to make dystrophin, which leads to a type of muscle damage that causes DMD. Dystrophin helps to strengthen and protect muscles.
What is the drug for Duchenne muscular dystrophy?
The new drugs approved by the FDA for the treatment of Duchenne muscular dystrophy (DMD) are: Amondys 45 (casimersen) Viltepso (viltolarsen) Vyondys 53 (golodirsen) Exondys 51 (eteplirsen) Emflaza (deflazacort) Duchenne muscular dystrophy (DMD) is a genetic disease that causes progressive weakness and loss of skeletal and heart muscles.
What is the name of the enzyme that covers up the exons of the dystrophin protein?
Newer agents called antisense oligonucleotides are now approved by the FDA. Antisense oligonucleotides are small pieces of DNA that are used to "mask" (cover up) the exon that needs to be skipped when making the dystrophin protein. This allows the rest of the gene to be be pieced together correctly.
Can antisense oligonucleotides cure DMD?
Not all patients respond to, or are candidates for antisense oligonucleotides. They are not a cure for DMD, but may help improve muscle symptoms. Many of these drugs received accelerated approval by the FDA and still require clinical trials to confirm their clinical benefit in DMD. The medications below have been approved by the FDA for ...
How many babies have DMD?
The first symptoms are usually seen between three and five years of age and worsen over time. DMD occurs in approximately one out of every 3,600 male infants worldwide; in rare cases, it can affect females.
What is the most common type of muscular dystrophy?
DMD is a rare genetic disorder characterized by progressive muscle deterioration and weakness. It is the most common type of muscular dystrophy. DMD is caused by mutations in the DMD gene that results in an absence of dystrophin, a protein found in muscle fiber.
What is the FDA approved pathway for Amondys 45?
Amondys 45 was approved using the Accelerated Approval pathway, under which the FDA may approve drugs for serious conditions where there is unmet medical need and a drug is shown to have certain effects that are reasonably likely to predict a clinical benefit to patients.
Is improved motor function a clinical benefit?
A clinical benefit of the drug, including improved motor function, has not been established. In making this decision, the FDA considered the potential risks associated with the drug, the life-threatening and debilitating nature of the disease, and the lack of available therapy.
What is the treatment for DMD?
Today, the U.S. Food and Drug Administration granted accelerated approval to Viltepso (viltolarsen) injection for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping.
How many babies have DMD?
The first symptoms are usually seen between three and five years of age and worsen over time. DMD occurs in approximately one out of every 3,600 male infants worldwide; in rare cases, it can affect females.
What is the most common type of muscular dystrophy?
DMD is a rare genetic disorder characterized by progressive muscle deterioration and weakness. It is the most common type of muscular dystrophy. DMD is caused by mutations in the DMD gene that results in an absence of dystrophin, a protein that helps keep muscle cells intact.
What is the FDA?
The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices.