Publications by authors named "Valerie Trommsdorff"
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
Orphanet J Rare Dis
September 2024
Article Synopsis
- Spinal muscular atrophy type 1 (SMA1) is a severe genetic disease affecting motor neurons, and onasemnogene abeparvovec gene transfer therapy (GT) has significantly impacted its treatment, although real-world data is limited.
- A study in France identified 95 SMA1 patients between June 2019 and June 2022, focusing on 29 who received GT and had over a year of follow-up.
- Results indicated positive motor development and maintenance of respiratory and feeding functions in treated infants, although many developed spinal deformities, and two patients sadly passed away shortly after treatment.
Article Synopsis
- Spinal muscular atrophy (SMA) is a genetic disorder leading to muscle atrophy due to a mutation in the SMN1 gene, and this study followed children treated with nusinersen over 36 months to assess their progress.
- 93% of the patients improved their motor skills, with those having three copies of the SMN2 gene achieving significant milestones like standing and walking, while none with two copies could.
- The findings suggest that nusinersen is effective in promoting motor development in SMA, especially for children with three SMN2 copies, who also face fewer complications compared to those with two copies.
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017. The aim of this article is to report results after 1 year of treatment with intrathecal nusinersen in children with SMA types 1 and 2 in France.
View Article and Find Full Text PDFObjective: Rasmussen's encephalitis (RE) is a severe chronic inflammatory brain disease affecting one cerebral hemisphere and leading to drug-resistant epilepsy, progressive neurologic deficit, and unilateral brain atrophy. Hemispherotomy remains the gold standard treatment but causes permanent functional impairment. No standardized medical treatment protocol currently exists for patients prior to indication of hemispherotomy, although some immunotherapies have shown partial efficacy with functional preservation but poor antiseizure effect.
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