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The Efficacy and Safety of Rapamycin in Children With Tuberous Sclerosis: A Cross-Sectional Study Publisher



Tehrani F1 ; Khosroshahi N2 ; Keihani Doust Z3 ; Dabiran S4 ; Zarkesh MR1, 5
Authors
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Authors Affiliations
  1. 1. Department of Neonatology, Yas Complex Hospital, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Pediatric Neurology, Bahrami Children’s Hospital, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Pediatrics, Imam Hospital, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Community Medicine, Center for Academic and Health Policy, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Maternal, Fetal and Neonatal Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian Journal of Child Neurology Published:2023


Abstract

Objectives Mutations in TSC1 or TSC2 genes have been proposed as the main causative factors responsible for developing Tuberous Sclerosis Complex (TSC). Given the effect of these two genes on the mTOR pathway, rapamycin has emerged as a novel therapeutic agent. The present study evaluated the effectiveness and safety of rapamycin on the multiple manifestations of TSC. Materials & Methods Twenty-three eligible children were enrolled in the present cross-sectional study. They were prescribed rapamycin 1mg tablet twice daily for the first two weeks of treatment and then once daily for at least one year. Periodic evaluations through follow-up visits were performed. Besides, growth and developmental statuses were evaluated. All data, including the number and size of brain tuberomas, size of renal angiomyolipomas, and skin lesions, were gathered and recorded, and then analyzed. Results During the study period, the mean number of epileptic episodes significantly reduced (p<0.0001), and nine cases were seizure-free at the final visit. The mean number of brain tuberomas decreased from 19.3±11.0 at the initial visit to 11.1±5.6 and 8.2±3.2 in the subsequent visits (p<0.001). The mean size of brain tuberomas similarly decreased from 17.9±18.5 cm at enrollment to 13.7±5.1 cm and 6.9±5.1 cm in the second and third visits, respectively (p=0.029). The mean size of renal angiomyolipomas significantly decreased (p<0.001). A significant trend toward a decrease in the number of skin lesions was observed (p<0.0001). No relationship was observed between the effects of rapamycin and the patient’s age or sex (p>0.05). Changes in patients’ growth and developmental features were not statistically significant through subsequent visits (p=0.507). Conclusion This study revealed the effectiveness and safety of rapamycin on TSC among our patients. © 2023 The Authors. Published by Shahid Beheshti University of Medical Sciences.