Initial Screening of Spinal Muscular Atrophy in High-Risk Thai Pediatric Patients: Dried Blood Spot Testing with Multiplex Ligation-dependent Probe Amplification Confirmation

Initial Screening of SMA in High-Risk Thai Pediatric Patients: DBS PCR-Based Testing with Multiplex Ligation-dependent Probe Amplification Confirmation

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

TCTR

Registry ID

TCTR20250225003

Enrollment

175

Registered

2025-02-25

Start date

2023-06-14

Completion date

Unknown

Last updated

2026-08-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

High-risk Thai pediatric patients whose symptoms compatible with SMA Spinal muscular atrophy (SMA), initial diagnostic screening, dried blood spot (DBS), Multiplex Ligation-Dependent Probe Amplification (MLPA)

Interventions

High-risk Thai pediatric patients whose symptoms compatible with SMA got screened using DBS method and the ones with positive results would be confirmed with MLPA

Diagnostic

High-risk Thai pediatric patients whose symptoms compatible with SMA

Eligibility

Sex/Gender

All

Age

No minimum to 21 Years

Inclusion criteria

Inclusion criteria: High-risk Thai pediatric patients whose symptoms compatible with SMA according to each age group 1. Neonates GA 34 weeks born to 6 months with any of the following symptoms - Hypotonia - Muscle weakness - Floppy infant - Areflexia - Gross motor delay 2. Infant aged 6 - 18 months with any of the following symptoms - Unable to walk or stand - Hypotonia - Muscle weakness - Areflexia - Gross motor delay 3. Pediatric patients age 18 months - 21 years old - Walking difficulty - Frequently fall - Hypotonia - Muscle weakness - Areflexia - Gross motor delay

Exclusion criteria

Exclusion criteria: 1. Patients with brain lesion, or CNS anomaly 2. Patients with congenital malformation/anomaly 3. Other underlying diseases or known etiology of hypotonia

Design outcomes

Primary

Measure	Time frame
Turn around time between Dried blood spot method and Multiplex Ligation-dependent Probe Amplification time from analysis to reporting result of each method The median turnaround time from analysis to reporting using the Dried blood spot method compared with that of Multiplex Ligation-dependent Probe Amplification	—

Secondary

Measure	Time frame
The prevalence of Spinal muscular atrophy found using Dried blood spot method at the time of diagnosis using Multiplex Ligation-dependent Probe Amplification The prevalence of Spinal muscular atrophy found using Dried blood spot method with Multiplex Ligation-dependent Probe Amplification confirmation	—

Countries

Thailand

Contacts

Public ContactNeera Sarapee

Faculty of Medicine Siriraj Hospital, Mahidol University

Neera.sarapee@gmail.com66892452600

Outcome results

None listed

Source: TCTR (via WHO ICTRP) · Data processed: Aug 10, 2026