Treatments are making a difference in SMA

With the approval of disease-modifying treatments, such as ZOLGENSMA® (onasemnogene abeparvovec-xioi), for spinal muscular atrophy (SMA), the past few years have rapidly changed the outcomes for people with SMA. Historically, SMA Type 1 was likely fatal for a child within the first 2 years of life without treatment.

Today, the SMA community is seeing children who were diagnosed with SMA Type 1 and received treatment reaching more milestones and birthdays than ever expected.

Download the Facts About SMA guide
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Treatments are making a difference in SMA

With the approval of disease-modifying treatments, such as ZOLGENSMA® (onasemnogene abeparvovec-xioi), for spinal muscular atrophy (SMA), the past few years have rapidly changed the outcomes for people with SMA. Historically, SMA Type 1 was likely fatal for a child within the first 2 years of life without treatment.

Today, the SMA community is seeing children who were diagnosed with SMA Type 1 and received treatment reaching more milestones and birthdays than ever expected.

Download the Facts About SMA guide

Four main types of SMA classified by severity

Doctors and families commonly use the types of SMA to classify the severity of the disease. Historically, doctors classify a person’s type of SMA based on when symptoms first appear and which motor milestones have been reached.

There are 4 main types of SMA (Types 1-4). SMA Type 1 is the most common and is very serious. The fifth type is SMA Type 0. This is the most severe type and can be fatal before the child is born.

A chart displaying the range of severity in patients affected by SMA, from Type 0 to Type 4 A chart displaying the range of severity in patients affected by SMA, from Type 0 to Type 4

The number of SMN2 backup genes plays a role in severity

The severity of SMA is usually related to the number of SMN2 backup genes a person has, so the fewer SMN2 copies, the more severe the SMA is likely to be. The number of SMN2 backup genes can be an important reference point for people because it can help anticipate the possible progression of the disease.

Treatments are changing the typical progression of SMA

The availability of disease-modifying treatments is further changing how SMA affects people. For example, a child diagnosed with SMA Type 1 who receives early treatment may reach milestones typically achieved by children with SMA Type 2 or Type 3, such as sitting or standing independently. Additionally, children with SMA Type 2 or Type 3 who do not receive treatment may lose the ability to maintain those milestones achieved. Today's approved treatments can affect outcomes, especially when given earlier. Every child responds differently to treatment, and milestones a child may achieve depend on how SMA affects a child before treatment.

Learn about the milestones achieved by the children in the clinical studies of ZOLGENSMA.

SMA Type 1: Disease progression without treatment

SMA Type 1 is the most common type of SMA and affects about 6 of every 10 children with SMA. SMA Type 1 is severe, and signs and symptoms usually begin to appear at less than 6 months of age. Most children with SMA Type 1 have 2 copies of the SMN2 backup gene. In some cases, children may have more than 2 copies or fewer than 2 copies. SMA Type 1 is a life-threatening condition that needs immediate attention. SMA Type 1 can quickly lead to the need for breathing and eating support and, without treatment, is likely to be fatal within the first 2 years of life.


Symptoms and progression of SMA Type 1

Children with SMA Type 1 rapidly decline in the natural history of SMA

Motor neuron cell icon

At or before birth

SMN protein deficiency and loss of motor neurons begins

Lung icon

About 5 months of age

Respiratory support is often needed

Baby bottle icon

About 6 months of age

Nutritional support is added

50% icon

About 10.5 months

Only 50% of children survive

8% icon

About 2 years old

Only 8% of children are alive and free of continuous breathing support

Continuous breathing support means that children need a machine to help them breathe for at least 16 hours every day for 2 weeks or more. Natural history of SMA refers to the progression of a disease in a person over time without treatment.

SMA Type 1 signs and symptoms

Signs and symptoms may vary at first, which means caregivers may not see them right away. Knowing what signs and symptoms to look for is critical in getting a diagnosis and starting a treatment.

Signs and symptoms may include:

  • A “floppy” baby, or hypotonia
  • Small or weak muscles
  • Difficulty breathing/belly breathing
  • Feeding issues, like choking or trouble swallowing
  • Weak sucking and labored breathing during feeding
  • Tongue fluttering
  • Bell-shaped chest (a result of muscle weakness)
  • Weak cough
  • Lack of reflexes
  • “Frog legs,” or the inability to kick while lying on back
  • Lack of motor development, like being unable to lift head or roll over
  • Inability to sit
  • Weak Cry

If you think your child has any of these symptoms, trust your instincts and immediately contact your child’s doctor for a referral to a pediatric neurologist.


SMA Type 2: Disease progression without treatment

Children with SMA Type 2 commonly have 3 copies of the SMN2 backup gene, show symptoms between 6 and 18 months of age, and have a shortened life span.


Symptoms and progression of SMA Type 2

Muscle weakness is very common and affects the ability to stand or walk without assistance. Children with muscle weakness typically have respiratory and nutritional difficulties that require additional support. Typically, these children first start losing abilities before 2 years of age.

Can achieve

  • Sitting independently
  • Maintaining head control
  • Rolling over or side to side

Cannot achieve

  • Walking
  • Running
  • Climbing
  • Self-dressing

Typical support needed

  • Non-invasive ventilation support (BiPAP)
  • Cough assist
  • Feeding tube
  • Assistive device (wheelchair)
  • Bracing

SMA Type 3: Disease progression without treatment

Symptoms can begin after 18 months of age, usually in early childhood. Children with SMA Type 3 usually have 3 or 4 copies of the SMN2 backup gene and lose many functions as they grow older, including walking and climbing.


Symptoms and progression of SMA Type 3

As children with SMA Type 3 grow, they may lose motor functions and muscle strength and may require help with mobility later in life. While the majority of these children do not have breathing issues, scoliosis can cause problems that affect breathing and may require respiratory support.

Can achieve

  • Walking with help
  • Climbing with help
  • Self-dressing
  • Eating with utensils

Cannot achieve

  • Running
  • Jumping
  • Climbing without help

Typical support needed

  • Assistive device (wheelchair)
  • Bracing
  • Physical and occupational therapy

SMA Type 4

This is a very rare type of SMA. Adults with SMA Type 4 usually have 4 copies or more of the SMN2 backup gene. Symptoms of SMA Type 4 can start around 18 years of age but typically don’t begin until after 20 or 30 years of age. People with SMA Type 4 usually only experience mild muscle weakness.

SMA Type 0

This is the most severe type of SMA and affects a baby that is still in the womb. SMA Type 0 can be fatal before birth and is almost always fatal within the first year of life.

Download Explaining SMA and ZOLGENSMA® (onasemnogene abeparvovec-xioi) to Others

Does my child have SMA?

The Facts About SMA provides you with easy-to-understand information about what causes SMA, signs and symptoms of SMA, and how quickly SMA can progress to a life-threatening condition. Learn more about SMA and bring this PDF to your doctor’s office to determine next steps.

Download the facts

Important Safety Information

What is the most important information I should know about ZOLGENSMA?

  • ZOLGENSMA can cause acute serious liver injury. Liver enzymes could become elevated and may reflect acute serious liver injury in children who receive ZOLGENSMA.
  • Patients will receive an oral corticosteroid before and after infusion with ZOLGENSMA and will undergo regular blood tests to monitor liver function.

Important Safety Information

What is the most important information I should know about ZOLGENSMA?

  • ZOLGENSMA can cause acute serious liver injury. Liver enzymes could become elevated and may reflect acute serious liver injury in children who receive ZOLGENSMA.
  • Patients will receive an oral corticosteroid before and after infusion with ZOLGENSMA and will undergo regular blood tests to monitor liver function.
  • Contact the patient’s doctor immediately if the patient’s skin and/or whites of the eyes appear yellowish, or if the patient misses a dose of the corticosteroid or vomits it up.

What should I watch for before and after infusion with ZOLGENSMA?

  • Viral respiratory infections before or after ZOLGENSMA infusion can lead to more serious complications. Contact the patient’s doctor immediately if you see signs of a possible viral respiratory infection such as coughing, wheezing, sneezing, runny nose, sore throat, or fever.
  • Decreased platelet counts could occur following infusion with ZOLGENSMA. Seek immediate medical attention if a patient experiences unexpected bleeding or bruising.

What do I need to know about vaccinations and ZOLGENSMA?

  • Talk with the patient’s doctor to decide if adjustments to the vaccination schedule are needed to accommodate treatment with a corticosteroid.
  • Protection against respiratory syncytial virus (RSV) is recommended.

Do I need to take precautions with the patient’s bodily waste?

Temporarily, small amounts of ZOLGENSMA may be found in the patient’s stool. Use good hand hygiene when coming into direct contact with bodily waste for 1 month after infusion with ZOLGENSMA. Disposable diapers should be sealed in disposable trash bags and thrown out with regular trash.

What are the possible or likely side effects of ZOLGENSMA?

The most common side effects that occurred in patients treated with ZOLGENSMA were elevated liver enzymes and vomiting.

Indication

What is ZOLGENSMA?
ZOLGENSMA is a prescription gene therapy used to treat children less than 2 years old with spinal muscular atrophy (SMA). ZOLGENSMA is given as a one-time infusion into a vein. ZOLGENSMA was not evaluated in patients with advanced SMA.

The safety information provided here is not comprehensive. Talk to the patient’s doctor about any side effects that bother the patient or that don’t go away.

You are encouraged to report suspected side effects by contacting the FDA at 1-800-FDA-1088 or www.fda.gov/medwatch, or AveXis at 833-828-3947.

Please see the Full Prescribing Information.