What treatments can help children with SMA?
May 24, 2019 · Connect with a specialist: http://bit.ly/2ZSoCz1How Gene Therapy works: http://bit.ly/2VpxIjaMore about Jerry Mendell, MD: http://bit.ly/2ZJEp2SMeet Jerry Me...
How can I learn more about SMA’s support and care publications?
Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller). SMA can affect a child's ability to crawl, walk, sit up, and control …
How does SMA affect a child's development?
One way of treating SMA is to increase the amount of survival motor neuron protein in the body. These ways of treating SMA are often called “SMN-based” or “SMN-enhancing” approaches. All …
Will SMN-based treatments work for SMA?
Aug 11, 2020 · Spinal muscular atrophy (SMA) is an inherited neurodegenerative disorder characterized by progressive muscle weakness.Currently, no cure is available for SMA, but …
How to test for SMA?
genetic testing: This is the most common way to test for SMA. Testing checks for a deletion or variation in the SMN1 gene. a muscle biopsy: This is when doctors take a small sample of muscle to check under a microscope.
How often do you give SMA?
Four doses are given over 2 months, and then every 4 months after that. Studies have shown significant improvement in breathing, motor function, and survival. gene therapy trials. These are ongoing and have shown promising results in improving overall function in SMA.
What is the cause of SMA?
Most kinds of SMA are caused by a problem with a gene called the SMN1 gene. The gene does not make enough of a protein needed for the motor neurons to work normally. The motor neurons break down and can't send signals to the muscles. A child with SMA gets one copy of the SMN1 gene from each parent.
How do you know if you have SMA?
The signs of SMA can vary. Some babies with SMA are "floppy" and don't learn to roll or sit at the expected age. An older child might fall more often than kids of the same age or have trouble lifting things. Kids with SMA can develop scoliosis (a curved spine) if the back muscles are weak.
What are the different types of SMA?
The four types of SMA are categorized by the disease's severity and the age when symptoms begin: 1 Type I, sometimes called infantile onset SMA or Werdnig-Hoffmann disease. Type I begins to affect infants from birth up to 6 months of age, with most babies showing signs of the disease by 3 months. This is the most severe form of SMA. 2 Type II begins to affect children between 7 and 18 months old. Children can sit independently, but cannot walk. This form can be moderate to more severe. 3 Type III, also called Kugelberg-Welander syndrome or juvenile SMA, begins to affect kids as early as 18 months of age or as late as adolescence. Children can walk independently, but have weakness in their arms and legs and may fall often. This is the mildest form of SMA in children. 4 Type IV is the adult form of SMA. Symptoms usually begin after age 35 and slowly get worse over time. Because it develops slowly, many people with type IV SMA don't know that they have it until years after symptoms begin.
What is the most severe form of SMA?
Type I , sometimes called infantile onset SMA or Werdnig-Hoffmann disease. Type I begins to affect infants from birth up to 6 months of age, with most babies showing signs of the disease by 3 months. This is the most severe form of SMA. Type II begins to affect children between 7 and 18 months old.
When does SMA start?
This is the mildest form of SMA in children. Type IV is the adult form of SMA. Symptoms usually begin after age 35 and slowly get worse over time. Because it develops slowly, many people with type IV SMA don't know that they have it until years after symptoms begin.
How to treat SMA?
One way of treat ing SMA is to increase the amount of survival motor neuron protein in the body. These ways of treating SMA are often called “SMN-based” or “SMN-enhancing” approaches. All individuals with SMA have at least one, and often multiple, copies of a second gene, called survival motor neuron gene 2 ( SMN2 ), or the “SMA back-up gene.”.
How early can you start treatment for SMA?
Beginning therapy as early as possible is the only way to prevent this motor neuron loss. For babies identified through newborn screening, treatment should begin even before the infant shows symptoms of SMA. In clinical trials of SMN-based therapies, individuals who began treatment earlier had better results than those who began treatment later.
Why do motor neuron cells shrink?
Due to a mutation in the survival motor neuron gene 1 ( SMN1 ), individuals with spinal muscular atrophy (SMA) don’t produce survival motor neuron (SMN) protein at high enough levels. Without this protein, the motor neuron cells shrink and eventually die. This causes debilitating and potentially fatal muscle weakness.
When do SMA neurons die?
This is especially important for SMN-enhancing therapies. When SMN levels are low , motor neuron cells shrink and eventually die. In infants with SMA Type 1, 90% of motor neurons have been lost by 6 months of age. And once these neurons are lost, they cannot be regenerated.
Can SMN be used to treat SMA?
Increasing the amount of SMN protein in the body is not the only way to treat SMA. The loss of SMN protein also impacts other systems, pathways, and processes, and other treatments target these systems. These approaches are often called “non-SMN” approaches. Many of these non-SMN approaches target the muscles or nerves.
Can you take two non-SMN drugs together?
Many of these non-SMN approaches target the muscles or nerves. Many researchers believe that it will take a combination of SMN-based and non-SMN treatments to provide the most benefit for those with SMA. This could mean that individuals with SMA will take two drugs together.
Can you be on SMN therapy?
Generally, you cannot be on an approved therapy and participate in a clinical trial, though there are some exceptions. For example, certain muscle drugs may be tested in individuals who are also on an approved SMN-enhancing therapy.
Why do SMA patients not produce enough of a protein?
SMA patients do not produce enough of a protein called survival motor neuron (SMN), due to a mutation in the SMN1 gene. Another gene, SMN2, also can produce some SMN protein, but it is less stable. The type of treatments a patient needs depends on the severity of symptoms and should be determined by a team of healthcare professionals.
What is SMA news?
SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
What is Zolgensma gene therapy?
Zolgensma, a gene therapy developed by AveXis, a Novartis company, uses a genetically engineered virus to deliver a healthy copy of the SMN1 gene to the body to increase the levels of functional SMN protein. The FDA approved Zolgensma in 2019 to treat all types of SMA in patients up to age 2.
What is Spinraza used for?
Spinraza (nusinersen), by Biogen, was the first disease-modifying therapy for SMA that the FDA approved in December 2016 to treat SMA in both infants and adults. The treatment also boosts the ability of the SMN2 gene to produce more functional SMN protein.
What is the effect of SMA on the lungs?
SMA weakens the muscles between the ribs that help the chest expand so air can enter the lungs during breathing. As a result, patients rely solely on the diaphragm for breathing, which is not very effective and causes difficulties. This weakness can worsen as other muscles also deteriorate with time.
Why is swallowing difficult?
Chewing and swallowing can be difficult if the jaw and throat muscles have deteriorated. As a result, patients may struggle to get enough nutrition, which can cause weight loss and affect growth in children. Other issues may include aspiration, when food or liquid goes down the windpipe and causes lung infections.
Can a brace help with SMA?
Scoliosis treatments. Patients with SMA sometimes develop scoliosis — an abnormally curved spine. If spotted early, a special brace for the back may be able to encourage the spine to develop correctly. However, if this does not work, surgery may be necessary to straighten the spine.
What is SMA in children?
Spinal muscular atrophy (SMA), a genetic condition, can affect all aspects of your child’s day-to-day life. Your child not only will have a harder time getting around, but also will be at risk for complications. Staying informed about the condition is important to give your child what they need to live a fulfilling and healthy life.
What is the best treatment for SMA?
Treatment. There are two pharmaceutical treatments now available for people with SMA. Nusinersen (Spinraza) is approved by the Food and Drug Administration (FDA) for use in children and adults. The medication is injected into the fluid surrounding the spinal cord.
What is the most severe type of SMA?
Type 1 (Werdnig-Hoff man disease) Type 1 SMA, or Werdnig-Hoffman disease, is usually diagnosed within the first six months of life. It’s the most common, and the most severe, type of SMA. SMA is caused by a deficiency of the survival of motor neuron (SMN) protein. People with SMA have mutated or missing SMN1 genes and low levels of SMN2 genes.
How old is a SMA?
Type 2 SMA, or intermediate SMA, is usually diagnosed between the ages of 7 and 18 months. People with type 2 SMA typically have three or more SMN2 genes. Children with type 2 SMA won’t be able to stand on their own and will have weakness in the muscles of their arms and legs.
What is the risk of a child with SMA?
A child with SMA is also at a higher risk of developing severe respiratory infections.
What are some devices that help children with muscle weakness stand?
There are many devices to help young children with muscle weakness stand and get around, such as powered or manual wheelchairs and braces. Some families even design custom wheelchairs for their child.
Why is it important to stay informed about a child's condition?
Staying informed about the condition is important to give your child what they need to live a fulfilling and healthy life.
What is SMA in children?
Motor neurons in the brain and spinal cord control muscle movement throughout the body. If there is not enough functional SMN protein, then the motor neurons die, leading to debilitating and often fatal muscle weakness. SMA caused by mutations in the SMN1 gene is generally classified into several subtypes, based on the age of onset and severity; infantile-onset SMA is the most severe and most common subtype. Children with this condition have problems holding their head up, swallowing and breathing. These symptoms may be present at birth or may present by the age of 6 months.
Who approved Zolgensma?
The FDA granted the approval of Zolgensma to AveXis Inc.
What is the FDA's approval for gene therapy?
FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality.
What is the FDA's priority review voucher?
The FDA also awarded the manufacturer a rare pediatric disease priority review voucher, under a program intended to encourage the development of new drugs and biological products for the prevention and treatment of certain rare pediatric diseases.
What is the best treatment for SMA?
To date, there is one FDA-approved injection for SMA in both children and adults: nusinersen (Spinraza). This treatment works by increasing the production of SMN proteins — something that people with SMA don’t produce enough of on their own — which are critical in preventing skeletal muscle weakness and wasting.
What is Zolgensma used for?
It’s a gene therapy that’s used for children ages 2 and under.
Is infusion therapy effective for SMA?
Infusion therapy is an effective treatment for SMA, especially when treatment starts at a young age.
Does insurance cover SMA?
Some insurance companies do cover the cost of SMA therapies. The exact coverage depends on your policy, so it’s important to check the details with your carrier before starting any treatment for SMA. You may also talk with your doctor about the possibility of participating in clinical trials, if interested.
Is Zolgensma approved for children?
Zolgensma, which is only approved for children under age 2, is a gene therapy used to treat infantile-onset SMA. There are also infusion therapy options for teens and adults with SMA, including Spinraza, as well as other types of injections that prevent complications from SMA. Last medically reviewed on February 24, 2021.
Is there a cure for SMA?
While there’s no cure for SMA, infusion therapies can help manage symptoms, and prevent progressive weakness and deterioration of your skeletal muscles.
Can you use Zolgensma in adults?
So far, it has shown encouraging results, increasing the survival rate of those patients. While Spinraza injections can be used in adults, the effects aren’t well understood in SMA type IV.
Other Clinical Care Evidence
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool
Additional Resources
There are a number of additional resources available on our Cure SMA website: