Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol

Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems, with a prevalence of 1:6,760–1:13,520 live births in Germany. On the molecular level, TSC is caused by heterozygous loss-of-function variants in either of the genes TSC1 o...

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Bibliographic Details
Main Authors: Jan H. Driedger, Julian Schröter, PROTECT-Study Group, Steffen Syrbe, Afshin Saffari
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Tuberous sclerosis complex
Precision medicine
mTOR inhibitor therapy
Multicenter clinical trial
Online Access:https://doi.org/10.1186/s13023-024-03495-1
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https://doi.org/10.1186/s13023-024-03495-1

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