Biosens

bSens.SMA

Spinal muscular atrophy (SMA)

RoadmapTechnology readiness level 4 of 9

A point-of-care strip test with single-domain antibodies, in development for spinal muscular atrophy.

  • Intended use and result: not defined yet. The test is in development.

TRL, or technology readiness level, is a scale from 1 to 9 that shows a technology's stage of development. It does not indicate how a test performs.

Talk to Biosens

Scientific context

What the studies say.

Data from scientific papers and books. They describe the condition, the field and the technology, not bSens products.

  • 1 in 10,000

    Spinal muscular atrophy (SMA) is estimated to occur in about 1 in 10,000 live births, based mostly on European studies. Type I, with onset before 6 months of age, accounts for around 60% of cases. 1

  • 12 to 15 kDa

    Single-domain antibodies derive from antibodies without light chains, described in camel serum in 1993. They weigh 12 to 15 kDa, against 150 kDa for a monoclonal antibody, and are very stable and heat-resistant. 2,3

  • 226 of 229

    In 1995, a study identified the SMN gene as an SMA-determining gene: it was missing or interrupted in 226 of 229 patients. In 1997, the same group showed a marked deficiency of the SMN protein in the disease. 4,5

  • 1 in 13,908

    In a newborn screening pilot for SMA in the state of São Paulo, using a genetic test on dried blood spots, 194,714 newborns were tested over two years and three months, and 14 had the disease confirmed, about 1 in 13,908. Treatment started at a median of 28 days of life, and 4 of the 14 babies were treated before symptoms. 6

  • Brazilian Law 14.154/2021 provides for expanding the newborn heel-prick test in Brazil's public health system (SUS) in five stages, from 6 to about 53 diseases. Spinal muscular atrophy is in the fifth stage; a 2024 review notes that the expansion was not yet in place in every state. 7

  • In the NURTURE study, open-label and without a comparison group, 25 children with a genetic diagnosis of SMA started nusinersen before symptoms. After about 5 years all were alive, and the authors highlight the value of early treatment. 8,9

References

  1. 1.Verhaart IEC, Robertson A, Wilson IJ, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017;12:124. doi:10.1186/s13023-017-0671-8
  2. 2.Hamers-Casterman C, Atarhouch T, Muyldermans S, et al. Naturally occurring antibodies devoid of light chains. Nature. 1993;363:446-448. doi:10.1038/363446a0
  3. 3.Pillay TS, Muyldermans S. Application of Single-Domain Antibodies ("Nanobodies") to Laboratory Diagnosis. Ann Lab Med. 2021;41:549-558. doi:10.3343/alm.2021.41.6.549
  4. 4.Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155-165. doi:10.1016/0092-8674(95)90460-3
  5. 5.Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet. 1997;16:265-269. doi:10.1038/ng0797-265
  6. 6.Nani D, Mendonça RH, da Graça FF, et al. Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation. Int J Neonatal Screen. 2026;12:50. doi:10.3390/ijns12030050
  7. 7.Romanelli Tavares VL, Mendonça RH, Toledo MS, et al. Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening. Genes (Basel). 2024;15:858. doi:10.3390/genes15070858
  8. 8.Crawford TO, Swoboda KJ, De Vivo DC, et al. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. Muscle Nerve. 2023;68:157-170. doi:10.1002/mus.27853
  9. 9.De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscul Disord. 2019;29:842-856. doi:10.1016/j.nmd.2019.09.007

Contact

Results at the Point of Care

Get in touch to learn about the bSens system.

Please do not send health information by e-mail. Biosens does not interpret test results or guide treatment.

E-mail

contact@biosens.tech

Address

Av. Theodomiro Porto da Fonseca 3101, Building 3, Room 1, 93022-715, São Leopoldo, RS, Brazil