ReviewOrphanet journal of rare diseases2022
Perfect match: mTOR inhibitors and tuberous sclerosis complex.
Review in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
51 citing papers in PubMed, 79 citations in OpenAlex.
- [Associations Between Genetic Causes of Psychiatric Disorders and Rare Monogenic Epilepsies].Der Nervenarzt · 2026Review
- A unilateral presentation of papillary renal cell carcinoma in a pediatric patient with tuberous sclerosis complex: A rare case report.Urology case reports · 2026Article
- The phosphoproteomic landscape of the neurological manifestations in tuberous sclerosis complex.Acta neuropathologica · 2026Article
- Article
- What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study.Journal of intellectual disability research : JIDR · 2026Article
- Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family.Molecular genetics & genomic medicine · 2026Article
- Central Serous Chorioretinopathy Deteriorated With Everolimus Administration in Advanced Renal Cell Carcinoma: A Case Report.Case reports in ophthalmological medicine · 2026Article
- Intermittent fasting and neuroprotection in Alzheimer's disease: metabolic mechanisms, cellular signaling, and brain-peripheral crosstalk.Frontiers in nutrition · 2026Review
- Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.PloS one · 2026Article
- Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex.Frontiers in genetics · 2026Article
- Article
- Sirolimus for the treatment of Graves' orbitopathy.Thyroid research · 2025Review
- Kidneys in Children with Tuberous Sclerosis Complex-An Up-to-Date Review.Journal of clinical medicine · 2025Review
- High-throughput bioprinting to produce micropatterned neuroepithelial tissues and model TSC2-deficient brain malformations.Cell reports methods · 2025Article
- Ablation of dysmorphic neurons is a safe and effective treatment for focal cortical dysplasia II.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Sexual dimorphism in response to intermittent fasting and its impact on the brain.Scientific reports · 2025Article
- The Possible Role of Postnatal Biphasic Dysregulation of IGF-1 Tone in the Etiology of Idiopathic Autism Spectrum Disorder.International journal of molecular sciences · 2025Review
- The Multifaceted Nature of Tuberous Sclerosis Complex.Sultan Qaboos University medical journal · 2025Article
- Exceptional Response in a Patient with mRCC Through Precision-Guided Treatment Involving Immunotherapy Rechallenge with Temsirolimus and Bevacizumab.Journal of immunotherapy and precision oncology · 2025Article
- Insights into Tuberous Sclerosis Complex : From Genes to Clinics.Journal of Korean Neurosurgical Society · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.