1. Long-Term Outcome of Gene Therapy for MLD and Prospective Newborn Screening: The Tübingen Experience.
- Author
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Gröschel, S., Fumagalli, F., Calbi, V., Zambon, A., Gallo, V., Reupero, S., Baldoli, C., Laugwitz, L., Essing, M., Chanson, C., Richardson, A., Brooks, J., Janzen, N., Kasper, D., Lang, P., and Aiuti, A.
- Subjects
NEWBORN screening ,GENE therapy ,LYSOSOMAL storage diseases ,COGNITION disorders ,EARLY diagnosis - Abstract
This article discusses the long-term outcomes of gene therapy for metachromatic leukodystrophy (MLD) and the potential benefits of newborn screening for early diagnosis and treatment. MLD is a lysosomal storage disorder caused by ARSA deficiency. The study presents data from a clinical trial program conducted in Milan, which included 39 patients with early-onset MLD. The results show that the gene therapy, ARSA-cel, has a favorable safety profile and sustained efficacy in preventing severe motor and cognitive impairment in early-onset MLD patients, particularly in the pre-symptomatic phase. The article also mentions a pilot study for newborn screening, which has identified and treated two patients with MLD. The authors emphasize the importance of early diagnosis and treatment through newborn screening to achieve the best possible outcomes for MLD patients. [Extracted from the article]
- Published
- 2023
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