Predictive Clinical-Biological Markers Over the First 3 Years of Nusinersen Treatment in SMA Type 1 Patients

Balneo and PRM Research Journal, Год журнала: 2024, Номер 15(Vol.15, no. 4), С. 754 - 754

Опубликована: Дек. 22, 2024

Werdnig-Hoffmann disease, or type 1 Spinal Muscular Atrophy (SMA), is caused by insufficient SMN protein synthesis due to a genetic defect. Symptoms appear within the first 6 months of life, and without ventilatory support, life expectancy averages 2 years. This study aimed monitor pNF-H neurofilament levels in cerebrospinal fluid (CSF) serum, serum creatinine, motor performance during nusinersen treatment evaluate as predictor outcomes. Biological samples clinical outcomes from 34 participants were analyzed at months, year, years, 3 years post-treatment initiation. Most patients showed favorable outcomes, with improved assessment scores, increased decreased CSF serum. Higher baseline was linked fewer SMN2 gene copies. The largest decrease occurred loading period, stabilizing low through maintenance. Smaller changes correlated better higher creatinine Nusinersen reduced levels, reflecting neuronal degradation, enhanced muscle activity, function. High SMA may indicate poorer prognosis for improvement.

Язык: Английский

Evolution of Functional and Paraclinical Markers as Predictive Factors in Pediatric Late-Onset SMA Under Nusinersen Treatment: The Role of CSF pNF-H

Balneo and PRM Research Journal, Год журнала: 2024, Номер 15(Vol.15, no. 4), С. 755 - 755

Опубликована: Дек. 22, 2024

Spinal Muscular Atrophy (SMA) is a rare neurodegenerative disease caused by insufficient synthesis of SMN protein, characterized progressive muscle weakness, atrophy, and complications affecting the respiratory digestive systems. Disease severity tends to be greater when symptoms manifest at an earlier age. Since 2016, FDA-approved drug nusinersen has provided disease-modifying treatment option. Identifying predictive factors for patient outcomes over time remains essential. This retrospective study analyzed clinical biological parameters in 42 patients (ages 13–215 months) with SMA types 2 3 first three years treatment. We assessed pNF-H levels CSF serum—neuronal proteins associated neurodegeneration—as well as serum creatinine levels, marker activity, motor skill scores evaluate pNF-H’s potential predictor development. Elevated were lower SMN2 gene copy number more recent onset. Following treatment, stabilized low values, likely due basal metabolic activity. In 3, higher baseline correlated improved performance time. Additionally, smaller changes during loading phase or various periods maintenance better development two

Язык: Английский

Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS

The Analyst, Год журнала: 2024, Номер unknown

Опубликована: Янв. 1, 2024

A MALDI-TOF MS-based method for gene testing in spinal muscular atrophy enables precise quantification of SMN copies, while also being capable simultaneously detecting pathogenic and polymorphic variants.

Язык: Английский