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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - A multicenter retrospective study
Orphanet Journal of Rare Diseases, Volume 14, No. 1, Article 96, Year 2019
Notification
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Description
Background: Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been used to treat TSC-related manifestations in older children and adults. However, data on their safety and efficacy in infants and young children are scarce. The objective of this study is to assess the utility and safety of mTOR inhibitor treatment in TSC patients under the age of 2 years. Results: A total of 17 children (median age at study inclusion 2.4 years, range 0-6; 12 males, 5 females) with TSC who received early mTOR inhibitor therapy were studied. mTOR inhibitor treatment was started at a median age of 5 months (range 0-19 months). Reasons for initiation of treatment were cardiac rhabdomyomas (6 cases), subependymal giant cell astrocytomas (SEGA, 5 cases), combination of cardiac rhabdomyomas and SEGA (1 case), refractory epilepsy (4 cases) and disabling congenital focal lymphedema (1 case). In all cases everolimus was used. Everolimus therapy was overall well tolerated. Adverse events were classified according to the Common Terminology Criteria of Adverse Events (CTCAE, Version 5.0). Grade 1-2 adverse events occurred in 12 patients and included mild transient stomatitis (2 cases), worsening of infantile acne (1 case), increases of serum cholesterol and triglycerides (4 cases), changes in serum phosphate levels (2 cases), increase of cholinesterase (2 cases), transient neutropenia (2 cases), transient anemia (1 case), transient lymphopenia (1 case) and recurrent infections (7 cases). No grade 3-4 adverse events were reported. Treatment is currently continued in 13/17 patients. Benefits were reported in 14/17 patients and included decrease of cardiac rhabdomyoma size and improvement of arrhythmia, decrease of SEGA size, reduction of seizure frequency and regression of congenital focal lymphedema. Despite everolimus therapy, two patients treated for intractable epilepsy are still experiencing seizures and another one treated for SEGA showed no volume reduction. Conclusion: This retrospective multicenter study demonstrates that mTOR inhibitor treatment with everolimus is safe in TSC patients under the age of 2 years and shows beneficial effects on cardiac manifestations, SEGA size and early epilepsy. © 2019 The Author(s).
Authors & Co-Authors
Saffari, Afshin
Germany, Heidelberg
Universitätsklinikum Heidelberg
Brösse, Ines
Germany, Heidelberg
Universitätsklinikum Heidelberg
Wiemer-Kruel, Adelheid
Germany, Kehl
Epilepsy Centre Kork
Hahn, Andreas
Germany, Giessen
Universitätsklinikum Gießen Und Marburg, Standort Gießen
van Tilburg, Cornelis M.
Germany, Heidelberg
Hopp Children's Cancer Center Heidelberg Kitz
Germany, Heidelberg
German Cancer Research Center
Germany, Heidelberg
Universitätsklinikum Heidelberg
Hoffmann, Georg Friedrich
Germany, Heidelberg
Universitätsklinikum Heidelberg
Gorenflo, Matthias
Germany, Heidelberg
Universitätsklinikum Heidelberg
Hethey, Sven
Germany, Hannover
Children's Hospital Auf Der Bult
Kôlker, Stefan
Germany, Heidelberg
Universitätsklinikum Heidelberg
Witt, Olaf
Germany, Heidelberg
Hopp Children's Cancer Center Heidelberg Kitz
Germany, Heidelberg
German Cancer Research Center
Germany, Heidelberg
Universitätsklinikum Heidelberg
Merkenschlager, Andreas
Germany, Leipzig
Universitätsklinikum Leipzig Und Medizinische Fakultät
Schlump, Jan Ulrich
Unknown Affiliation
Milde, Till
Germany, Heidelberg
Hopp Children's Cancer Center Heidelberg Kitz
Germany, Heidelberg
German Cancer Research Center
Germany, Heidelberg
Universitätsklinikum Heidelberg
Ziegler, Andreas E.
Germany, Heidelberg
Universitätsklinikum Heidelberg
Syrbe, Steffen
Germany, Heidelberg
Universitätsklinikum Heidelberg
Statistics
Citations: 81
Authors: 15
Affiliations: 13
Identifiers
Doi:
10.1186/s13023-019-1077-6
ISSN:
17501172
Research Areas
Disability
Maternal And Child Health
Noncommunicable Diseases
Study Design
Cohort Study
Participants Gender
Female