Primary objective To analyze rate of Thai SMA patients identified by melting curve-based assay of 20,000 Dried Blood Spot (DBS) samples collected in Expanded Newborn Screening from hospitals in Bangkok area sent to Siriraj hospital. Primary endpoint Incidence of Thai patients with positive screening test for SMA Newborn screening, Spinal muscular atrophy, SMA newborn screenings, NBS
Conditions
Interventions
NBS samples will be collected following the instructions of the ENS project . In summary, NBS samples will be collected on filter paper Whatman S&
S 903 after 48 hours of life and will be breastfed for 4-6 meals. If mother is discharged before 48 hours, NBS samples could be collected. Blood sampling could be taken from heel or dorsal hand vein.
Screening
Thai newborns screening
Sponsors
Faculty of Medicine Siriraj Hospital, Mahidol University
Eligibility
Sex/Gender
All
Age
24 Hours to 48 Hours
Inclusion criteria
Inclusion criteria: Thai newborns in participating hospitals during the inclusion period.
Exclusion criteria
Exclusion criteria: Newborns whose parents or legally acceptable representatives do not sign informed consent form to participate in the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| SMN1 exon 7 deletion and SMN2 copy number (where performed) The DBS cards will be sent to and analyzed at Siriraj Hospital within 2 days. NBS samples will be collected following the instructions of the ENS | — |
Secondary
| Measure | Time frame |
|---|---|
| N/A N/A N/A | — |
Countries
Thailand
Contacts
Public ContactSurachai Likasitwattanakul
Faculty of Medicine Siriraj Hospital, Mahidol University
Outcome results
None listed