No-charge genetic testing for spinal muscular atrophy (SMA)
Biogen, together with Invitae, is offering no-charge genetic testing to patients suspected of having or clinically diagnosed with SMA.
The SMA Identified program facilitates access to genetic testing to help accelerate or confirm the diagnosis of SMA. This genetic test detects SMN1 whole-gene deletions and sequence variants. The test also quantifies SMN2 copy number, which, along with SMN1 deletion, may be useful for prognosis. Genetic testing is a key diagnostic step for individuals suspected of having SMA. Positive results from genetic testing are typically required to initiate treatment.1 Participation in the SMA Identified program does not guarantee access to treatment.
While Biogen provides financial support for this program, at no time does Biogen receive identifiable patient information.
SMA is a neuromuscular disease characterized by2,3:
- Degeneration of spinal cord motor neurons
- Skeletal muscular atrophy
- Weakness commonly involving the limbs
SMA results from insufficient survival motor neuron (SMN) protein in motor neurons. The SMN1 gene is the primary producer of SMN protein, which is critical for the survival of motor neurons. Patients with SMA lack the SMN1 gene and rely on a closely related gene called SMN2. SMN2 is present in all individuals with SMA and has the ability to produce functional, full-length SMN protein. Although disease severity may not always be predicted by the number of SMN2 copies, there is a strong correlation in many cases.1,3