ArticleOrphanet journal of rare diseases2019
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 3 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
58 citing papers in PubMed, 3 syntheses or guidelines pooled it, 124 citations in OpenAlex.
- Everolimus and sirolimus in the treatment of cardiac rhabdomyomas in neonates.Pediatric research · 2025Pooled it
- Treatment strategy for acquired pure red cell aplasia: a systematic review and meta-analysis.Blood advances · 2023Pooled it
- Treatment of Cardiac Rhabdomyomas with mTOR Inhibitors in Children with Tuberous Sclerosis Complex-A Systematic Review.International journal of environmental research and public health · 2021Pooled it
- Longitudinal transvaginal neurosonographic evaluation of intracranial lesions in a fetus with tuberous sclerosis complex.Journal of medical ultrasonics (2001) · 2026Article
- Everolimus initiated in the neonatal period for refractory seizures associated with tuberous sclerosis complex: long-term clinical outcome.Epilepsy & behavior reports · 2026Article
- Early neurodevelopmental outcomes in a child with tuberous sclerosis complex treated with everolimus and vigabatrin.BMC neurology · 2026Article
- Successful Everolimus Therapy for Atrioventricular Block Due to Cardiac Rhabdomyoma Associated With Tuberous Sclerosis Complex.JACC. Case reports · 2026Article
- The excitatory milieu in glioma: Mechanisms and therapeutic avenues.Neuro-oncology · 2025Review
- [Experience with medical treatment using sirolimus for cardiac rhabdomyomas in children. A case series].Archivos de cardiologia de Mexico · 2025Article
- Transplacental sirolimus: a new treatment strategy for life-threatening fetal cardiac rhabdomyomas-a case report.Orphanet journal of rare diseases · 2025Article
- Nested Case-Control Study of Intervention in Early Infancy to Prevent Tuberous Sclerosis Complex-Associated Renal Angiomyolipoma.Kidney international reports · 2025Article
- Intersection of two rare conditions: Clinical reflection on tuberous sclerosis combined with primary lymphedema.World journal of clinical cases · 2025Article
- Article
- Foetal cardiac rhabdomyoma due to paternalPathologica · 2025Review
- KaRhab: an international online registry for cardiac rhabdomyomas.Orphanet journal of rare diseases · 2025Article
- Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Review
- 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.Orphanet journal of rare diseases · 2025Article
- Exploring Cardiovascular Involvement in Tuberous Sclerosis: Insights for Pediatric Clinicians.Children (Basel, Switzerland) · 2024Review
- Tuberous sclerosis complex combined with primary lymphedema: A case report.World journal of clinical cases · 2024Article
- mTOR and neuroinflammation in epilepsy: implications for disease progression and treatment.Nature reviews. Neuroscience · 2024Review
Corrections and comments
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Authors and funding
24 authors at 14 institutions in 1 country.
Funding
Abstract
backgroundTuberous 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.
resultsA 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.
conclusionThis 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.
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