Long-term outcomes of mTOR inhibitor treatment in infants with tuberous sclerosis
Author Information
Author(s): Driedger Jan H., Schröter Julian, Hertzberg Christoph, Weschke Bernhard, Kaindl Angela M., Lücke Thomas, Thiels Charlotte, Klotz Kerstin Alexandra, Fazeli Walid, Rostásy Kevin, Wiethoff-Ubrig Lucia, Kaiser Olaf, Trollmann Regina, Mammadova Dilbar, Schubert-Bast Susanne, Bach Alexia, Eckenweiler Matthias, Schönberger Jan, Martakis Kyriakos, Hahn Andreas, Brockmann Knut, Dreha-Kulaczewski Steffi, Weiss Deike, Denecke Jonas, Muhle Hiltrud, Arelin Maria, Merkenschlager Andreas, Borggräfe Ingo, Roser Timo, Ebrahimi-Fakhari Daniel, Fiedler Barbara, Schlump Jan-Ulrich, Köster Ilka, Korenke Christoph, Alber Michael, Ruf Susanne, Feucht Martha, Scholl Theresa
Primary Institution: Heidelberg University, Heidelberg, Germany
Hypothesis
The critical time window for mTOR inhibitors may lie in early infancy, before TSC-related symptoms occur.
Conclusion
This study aims to improve neuropsychological outcomes in young TSC patients through pre-emptive mTOR inhibitor therapy.
Supporting Evidence
- Sirolimus has shown efficacy in treating TSC-related manifestations.
- Neuropsychologic deficits in TSC significantly impact quality of life and lifespan.
- Early initiation of mTOR inhibitors may offer a potential preventive strategy.
Takeaway
This study is looking at how a medicine can help babies with a condition called tuberous sclerosis before they show any symptoms.
Methodology
This is a two-arm, randomized, observer-blind, phase IIb national multicenter clinical trial assessing neuropsychological outcomes in infants with TSC receiving mTOR inhibitors.
Potential Biases
Potential bias in randomization due to age stratification.
Limitations
Limited safety data in neonates and young infants; no placebo administered to control group.
Participant Demographics
Infants diagnosed with TSC under four months of age.
Digital Object Identifier (DOI)
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