If we didn’t screen for spinal muscular atrophy (SMA), imagine what they might miss.

Every parent wants a future bright and rich with endless imaginative possibilities for their baby. Through the eyes of a child, magical adventures are endless. But children with the most severe forms of SMA, if left untreated, may not live long enough to experience them.  

SMA is a rare, devastating genetic disease that leads to progressive muscle weakness, paralysis, and, when left untreated in its most severe forms, permanent ventilation or death in 90% of cases by age two.1,2

Many clinicians may not initially recognize the early signs of SMA, which leads to delays in diagnosis and treatment. As such, Novartis Gene Therapies recognizes the critical importance of newborn screening for SMA and advocates for its implementation globally, alongside patient advocacy organizations and others in the healthcare industry. 

See the Unseen is an unbranded disease awareness campaign that has been designed by Novartis Gene Therapies to raise awareness of the importance of newborn screening in rare, yet treatable, genetic diseases, like SMA.

For information about newborn screening in your region, please see here.

Newborn screening for SMA

Acknowledgment around the significant unmet need for newborn screening for SMA is gaining momentum globally through the implementation of pilot programs.

Many countries have not implemented newborn screening for SMA due to the lack of effective treatments for SMA in the past. The SMA community calls for newborn screening for SMA due to:

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development of life-saving interventions
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early treatment having a major influence on outcomes
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introduction of screening in U.S. and other countries




Surveys have found that 70% of the SMA community and 84% of the general public favor newborn screening. In one pilot study, over 90% of parents agreed to participate in newborn screening for SMA.3,4

What can you do?

Access to newborn screening for SMA varies globally. In some countries, newborn screening for SMA is already available and performed as standard when a baby is born. In other instances, it can be harder to get access.

Talk to your doctor. They will be able to inform you of the process of newborn screening in your country or region and how to have your baby screened for SMA.

Show your support by downloading and sharing the campaign imagery across your social media channels, using the hashtag #SeeTheUnseen. Campaign visuals can be downloaded here.

Understanding SMA

What is SMA?

SMA affects approximately one in 10,000 live births worldwide, and roughly one in 54 people carry the genetic defect that causes the disease.5,6

SMA—a leading genetic cause of infant death when untreated1—is caused by a lack of a functional survival motor neuron 1 (SMN1) gene, resulting in the progressive and irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement.1,2,7,8  SMN1 is responsible for the production of survival motor neuron (SMN) protein, essential to the survival of motor neurons.1

The severity of SMA varies across a spectrum of types that, in general, each correspond to the number of copies of the SMN2 gene, which produces a small fraction (~10%) of functional SMN protein compared with SMN1.2,5 

Learn more about why it is imperative to diagnose SMA and begin treatment, including proactive supportive care, as early as possible to halt irreversible motor neuron loss and disease progression.8,9 

Newborn screening

What is newborn screening?

Newborn screening is a simple blood test performed at birth with the aim of detecting treatable conditions in infants that are not clinically evident during the newborn period in order to intervene as early as possible.10 The detection of disease through newborn screening allows for timely access to treatment and effective care, resulting in improved clinical outcomes. Read more about the critically important role newborn screening plays in detecting diseases like SMA. 
 

Our commitment to newborn screening

We recognize the global importance of local implementation of newborn screening programs to
ensure early diagnosis of SMA. 

Our commitment:

  • Provide best practices, resources and support for implementation of newborn screening initiatives at the region, country and local level.
  • Help establish frameworks and develop resources for future newborn screening initiatives.
  • Engage directly with policy makers in countries to educate and advocate for newborn screening.
  • Track and provide updates on global newborn screening efforts.
  • Set the foundation for the future of early diagnosis for other rare genetic disorders.
  • Form and join alliances with patient advocacy organizations to further align and advance newborn screening efforts.

Novartis Gene Therapies has launched the “See the Unseen” campaign to raise awareness of the importance of newborn screening in rare, yet treatable, genetic diseases, like spinal muscular atrophy (SMA).

  1. Anderton RS and Mastaglia FL. Advances and challenges in developing a therapy for spinal muscular atrophy. Expert Rev Neurother. 2015;15(8):895-908.
  2. Finkel RS, McDermott MP, Kaufmann P, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83(9):810–817.
  3. Boardman FK, Sadler C, Young PJ. Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population. Mol Genet Genomic Med. 2018;6:99–108.
  4. Kraszewski JN, Kay DM, Stevens CF, et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet Med. 2018;20(6):608–613.
  5. Verhaart IEC, Robertson A, Leary R, et al. A multi-source approach to determine SMA incidence and research ready population. J Neurol. 2017; 264(7):1465-1473.
  6. Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377(18):1713-1722.
  7. National Organization for Rare Disorders (NORD). Spinal muscular atrophy. https://rarediseases.org/rare-diseases/spinal-muscular-atrophy. Accessed October 2022.
  8. Lin CW, Kalb SJ, Yeh WS. Delay in diagnosis of spinal muscular atrophy: a systematic literature review. Pediatr Neurol. 2015;53(4):293-300.
  9. European Parliament (2020). Priority question for written answer P-004487/2020 to the Commission. https://www.europarl.europa.eu/doceo/document/P-9-2020-004487_EN.docx. Accessed October 2022.
  10. Watson MS. Current status of newborn screening: decision-making about the conditions to include in screening programs. Ment Retard Dev Disabil Res Rev. 2006;12(4):230–235.