Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation

Area of Science:

• Genetics
• Neurology
• Public Health

Background:

• 5q spinal muscular atrophy (5q SMA) is a prevalent autosomal recessive disorder in the Russian Federation.
• Recent advancements include the registration of three medications for 5q SMA treatment between 2019 and 2021.
• The implementation of newborn screening (NBS) is crucial for early diagnosis and intervention.

Purpose of the Study:

• To evaluate the feasibility and initial outcomes of a pilot newborn screening program for 5q SMA in Moscow.
• To determine the birth prevalence of 5q SMA in the screened population.
• To assess the effectiveness of NBS in identifying infants eligible for gene therapy.

Main Methods:

• Conducted a pilot NBS program for 5q SMA in Moscow, screening 23,405 neonates.
• Utilized the SALSA® MC002 SMA Newborn Screen Kit to detect homozygous deletions of SMN1 exon 7.
• Employed restriction fragment length polymorphism (RFLP) for validation and MLPA to determine SMN2 exon 7 copy number for treatment eligibility.

Main Results:

• Identified three newborns with homozygous deletion of the SMN1 gene.
• Calculated a birth prevalence of 1:7801, consistent with European findings.
• Detected infants showed no immediate respiratory or bulbar symptoms, highlighting the benefit of presymptomatic diagnosis.

Conclusions:

• The pilot NBS program successfully identified 5q SMA cases in Moscow.
• The birth prevalence is comparable to other European populations, supporting the need for widespread screening.
• Early detection through NBS facilitates prompt initiation of gene therapy, potentially improving patient outcomes.