Diagnosis and treatment

Early diagnosis and treatment can stop disease progression1

Treatment for spinal muscular atrophy (SMA) has undergone a major paradigm shift. Previously, SMA care focused on management; today, with disease-modifying treatment options, patients can see significant improvement over the natural history.1,2

Without treatment, SMA Type 1 has historically been a leading cause of infant death, with a life expectancy of under 2 years. Initiating treatment early—even before the appearance of clinical signs—may lead to better patient outcomes, as SMA is progressive and loss of motor neurons is irreversible.1,2

See how patients compare to natural history

Now implemented in 48 states, newborn screening for SMA captures 99% of births in the US3

As of February 22, 2023.3

Newborn screening enables identification of patients with SMA before signs appear. With a few drops of blood from a newborn’s heel, the test screens for multiple genetic and metabolic disorders. Early detection, diagnosis, and intervention through screening can prevent death or disability.2,4

Check the status of your state
Map of the United States showing newborn screening states for SMA in purple

2 states still have progress to make in implementing newborn screening for SMA. 3 For the latest updates, visit curesma.org/newborn-screening-for-sma

Path to diagnosis 

There are 3 ways to identify SMA: 

  • Genetic testing: Newborn screening and other genetic testing options are the standard for SMA diagnosis5,6
  • Identifying signs: If a healthcare professional recognizes the signs of SMA, they should refer the patient to a neuromuscular specialist immediately. In states where SMA is not included in newborn screening tests or in older infants born before screening implementation, vigilance is essential1,6
  • Prenatal and carrier testing: Families with a history of SMA or carriers for the SMN1 mutation may consider testing for SMA in utero. Prenatal testing and screening can help families prepare for treatment as early as possible, and genetic counselors can help them navigate the current landscape of SMA treatment6

After talking with a genetic counselor and understanding more about the disease… we were able to take steps before [our daughter] was born to ensure she got treatment as fast as possible.”

Emily, SMA caregiver

Early treatment is essential no matter how SMA is identified.1

CARE TEAMS PLAY A KEY ROLE

States with newborn screening6

Once SMA has been identified, confirm a diagnosis as soon as possible with genetic testing. Don’t wait, refer urgently to a specialist while results are pending

States without newborn screening2,6

SMA is identified through the different signs or prenatal screening

A genetic test is performed to confirm a diagnosis of SMA

Refer patients to a treatment center or neuromuscular specialist with urgency. Early treatment can improve patient outcomes

The Novartis Gene Therapies Laboratory Testing Program can support in assisting genetic testing. For more information, please contact your Novartis Gene Therapies Regional Account Associate Director or call the OneGene Program® at 1-855-441-GENE (4363)

After diagnosis, immediate treatment is recommended

For patients with SMA with up to 4 copies of the SMN2 gene, immediate treatment is recommended by SMA experts in order to maximize response to treatment. Delivering treatment before significant motor weakness or loss occurs may lead to better patient outcomes; presymptomatic patients with SMA Type 1 can also benefit from early treatment.1,7

Learn about ZOLGENSMA treatment in symptomatic and presymptomatic SMA Type 1 patients in the STR1VE and SPR1NT trials.

Symptomatic: STR1VE
Presymptomatic: SPR1NT

I would tell [caregivers] not to be afraid to ask questions. Do your research ahead of time and come prepared to ask questions.”

Victoria, SMA caregiver