Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
September 14, 2026Brain and Development Case ReportsOpen Access

Rapid in-house dPCR establishes definitive SMA diagnosis within 11 hours to enable ultra-early treatment.

View Full Paper
Ask AI
Bookmark
Share

Why the study?

Does a rapid in-house dPCR diagnostic system facilitate ultra-early treatment in infants with spinal muscular atrophy?

Population

1 male infant with spinal muscular atrophy referred at 8 days of age after a positive newborn screening…

Design

Case_report

Follow-up

25 days

Key result

A rapid in-house dPCR workflow established a definitive SMA diagnosis within 11 hours, enabling ultra-early treatment at 9 days of age and an increase in CHOP INTEND score from 53 to 56 at 25 days.

Authors

KMKotaro MoriMIMasato IsonoKTKozue Takano

Discussion

Loading...

Member takes

Overview

Hypothesis-generating for rapid SMA diagnostics; prospective studies needed before broader adoption.

Key Points

  • To establish a rapid in-house digital PCR workflow that minimizes diagnostic delays following newborn screening and enables ultra-early, pre-symptomatic treatment for spinal muscular atrophy.
  • Assessed an 8-day-old male infant referred after a positive newborn screening result using an ISO 15189-accredited in-house digital PCR assay to determine SMN1 and SMN2 copy numbers.
  • Initiated oral risdiplam followed by onasemnogene abeparvovec gene therapy, monitoring motor outcomes using the CHOP INTEND scale.
  • The in-house digital PCR assay diagnosed homozygous SMN1 deletion and three SMN2 copies within 11 hours of sample receipt, demonstrating complete concordance with certified controls and inter-assay CV below 4%.
  • Risdiplam was initiated at 9 days of age and onasemnogene abeparvovec at 27 days, with CHOP INTEND scores increasing from 53 at baseline to 56 at 25 days.

Study Design

Type

Case Report (n=1)

Structured PICO

Does a rapid in-house dPCR diagnostic system facilitate ultra-early treatment in infants with spinal muscular atrophy?

P
Population
1 male infant referred at 8 days of age after a positive newborn screening result for spinal muscular atrophy.
I
Intervention
Rapid in-house digital PCR (dPCR) diagnostic system followed by ultra-early treatment with risdiplam at 9 days of age and onasemnogene abeparvovec at 27 days.
O
Outcome
Time to definitive diagnosis and treatment initiation, and motor function assessed by CHOP INTEND scores.surrogate

A rapid in-house dPCR workflow can significantly shorten the time to definitive diagnosis of SMA, enabling ultra-early treatment initiation within the critical therapeutic window.

Cite This Study

Mori et al. (2026) conducted a case report in Spinal muscular atrophy (SMA) (n=1). Rapid in-house digital PCR (dPCR) diagnostic system and ultra-early treatment was evaluated on Time to definitive diagnosis and CHOP INTEND score. A rapid in-house dPCR workflow established a definitive SMA diagnosis within 11 hours, enabling ultra-early treatment at 9 days of age and an increase in CHOP INTEND score from 53 to 56 at 25 days.

synapsesocial.com/papers/6aa7afef79e9260bc85aad1ahttps://doi.org/10.1016/j.bdcasr.2026.100159
View Full Paper
Ask AI
Bookmark
Share