Exploring the Role of Neurofilament Light Chain in Spinal Muscular Atrophy
By
Arlene D'Silva
Karen Herbert
Lakshmi Balaji
Jia Mei He
Tejaswi Kandula
Hugo A. Sampaio
Hooi-Ling Teoh
Esther Tantsis
Jihee Sohn
Nancy Briggs
Nickson Ning
Matthew C. Kiernan
Didu S. Kariyawasam
Michelle A. Farrar
July 1, 2026
Clinical Scorecard: Exploring the Role of Neurofilament Light Chain in Spinal Muscular Atrophy
At a Glance
Category Detail
Condition Spinal Muscular Atrophy (SMA) Key Mechanisms Neurofilament light chain (NfL) levels reflect disease activity and correlate with disease severity. Target Population Individuals with biallelic deletions of exon 7 on survival motor neuron 1 (SMN1), including neonates and children. Care Setting Tertiary neuromuscular service
Key Highlights
NfL levels are significantly higher in children with SMA compared to typically developing peers. NfL is considered a surrogate endpoint in clinical trials and for clinical care. There is a need for further investigation of NfL in neonates identified through newborn screening. High NfL levels are observed in individuals with a 2 SMN2 copy genotype. The study evaluates pretreatment NfL levels against disease characteristics and longitudinal changes. Guideline-Based Recommendations
Diagnosis
NfL levels can aid in the diagnosis and monitoring of SMA. Management
Consideration of NfL as a biomarker for treatment response and disease progression. Monitoring & Follow-up
Longitudinal tracking of NfL levels is crucial for assessing disease activity. Risks
Variability in NfL levels among individuals with different SMN2 copy numbers may complicate prognostication. Patient & Prescribing Data
Individuals with SMA, particularly those identified through newborn screening.
NfL suppression is associated with SMN protein repletion from disease-modifying treatments.
Clinical Best Practices
Utilize NfL levels for prognostication and treatment monitoring in SMA. Incorporate NfL analysis in clinical trials for SMA therapies. Related Resources & Content
