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01-12-2022 | Tuberous Sclerosis | Review

Perfect match: mTOR inhibitors and tuberous sclerosis complex

Authors: Cong Luo, Wen-Rui Ye, Wei Shi, Ping Yin, Chen Chen, Yun-Bo He, Min-Feng Chen, Xiong-Bin Zu, Yi Cai

Published in: Orphanet Journal of Rare Diseases | Issue 1/2022

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that presents with diverse and complex clinical features and involves multiple human systems. TSC-related neurological abnormalities and organ dysfunction greatly affect the quality of life and can even result in death in patients with TSC. It is widely accepted that most TSC-related clinical manifestations are associated with hyperactivation of the mammalian target of rapamycin (mTOR) pathway caused by loss‑of‑function mutations in TSC1 or TSC2. Remarkable progress in basic and translational research has led to encouraging clinical advances. Although mTOR inhibitors (rapamycin/everolimus) demonstrate great potential in TSC management, two major concerns hamper their generalized application. One is the frequent manifestation of adverse events, such as stomatitis, infections, and menstrual disorders; and the other is the poor response in certain patients. Thus, indicators are required to effectively predict the efficacy of mTOR inhibitors. Herein, we have summarized the current utilization of mTOR inhibitors in the treatment of TSC and focused on their efficacy and safety, in an attempt to provide a reference to guide the treatment of TSC.

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Title: Perfect match: mTOR inhibitors and tuberous sclerosis complex
Authors: Cong Luo
Wen-Rui Ye
Wei Shi
Ping Yin
Chen Chen
Yun-Bo He
Min-Feng Chen
Xiong-Bin Zu
Yi Cai
Publication date: 01-12-2022
Publisher: BioMed Central
Keywords: Tuberous Sclerosis
Epilepsy
mTOR-Inhibitors
Everolimus
Published in: Orphanet Journal of Rare Diseases / Issue 1/2022
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-022-02266-0

At a glance: The STEP trials

Springer Medicine

Perfect match: mTOR inhibitors and tuberous sclerosis complex

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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