Trial reportOrphanet journal of rare diseases2012
Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial.
Trial report in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Brazilian Thoracic Association recommendations for the management of lymphangioleiomyomatosis.Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia · 2025Guideline
- Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2019Trial
- Nested Case-Control Study of Intervention in Early Infancy to Prevent Tuberous Sclerosis Complex-Associated Renal Angiomyolipoma.Kidney international reports · 2025Article
- Giant renal angiomyolipoma unmasks underlying lymphangioleiomyomatosis: a case report and literature review.Frontiers in medicine · 2025Article
- Sirolimus can promote the disappearance of renal angiomyolipoma associated with tuberous sclerosis complex: a prospective cohort study.World journal of pediatrics : WJP · 2024Article
- Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.Nature reviews. Nephrology · 2024Review
- Tuberous Sclerosis Complex and the kidneys: what nephrologists need to know.Jornal brasileiro de nefrologia · 2024Review
- Adverse Events of Everolimus in Patients with Tuberous Sclerosis Complex Treated for Renal Angiomyolipoma/Subependymal Giant Cell Astrocytoma.International journal of medical sciences · 2023Article
- Reciprocal effects of mTOR inhibitors on pro-survival proteins dictate therapeutic responses in tuberous sclerosis complex.iScience · 2022Article
- Perfect match: mTOR inhibitors and tuberous sclerosis complex.Orphanet journal of rare diseases · 2022Review
- The paradox of autophagy in Tuberous Sclerosis Complex.Genetics and molecular biology · 2021Article
- Renal Manifestations of Tuberous Sclerosis Complex.Journal of kidney cancer and VHL · 2020Review
- CT characteristics predict the response to everolimus or sirolimus of renal angiomyolipomas in patients with tuberous sclerosis complex.International urology and nephrology · 2019Article
- Burden of renal angiomyolipomas associated with tuberous sclerosis complex: results of a patient and caregiver survey.Journal of patient-reported outcomes · 2018Article
- Familial genetic tuberous sclerosis complex associated with bilateral giant renal angiomyolipoma: A case report.Oncology letters · 2017Article
- Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role.Archives of disease in childhood · 2017Review
- mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders.Orphanet journal of rare diseases · 2017Review
- Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide.Orphanet journal of rare diseases · 2017Review
- The Risks of Renal Angiomyolipoma: Reviewing the Evidence.Journal of kidney cancer and VHL · 2017Review
- Roles of mTOR complexes in the kidney: implications for renal disease and transplantation.Nature reviews. Nephrology · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTuberous sclerosis (TS) is a rare autosomal dominant systemic disease with an estimated prevalence of 1/6000. Renal angiomyolipoma (AML) is a benign tumour with high morbidity frequently present in TS. The aim of the study was to test the effect of rapamycin in reducing the volume of AML in TS.
methodsTwenty four-month prospective open-label, single arm, unicentre Phases II andIII study. The primary endpoint was to evaluate the effect of treatment on the reduction of at least 50% AML volume from baseline at 24 months. The secondary endpoints were: average tumour reduction, surgical complications, skin lesions and drug safety.The study population comprised 17 patients, aged >10 years who were diagnosed with TS and had ≥1 renal AML >2 cm of diameter and had a serum creatinine < 2mg/dl and urine protein/creatinine ratio < 22.6 mg/mmol. The trial was conducted at Fundació Puigvert. Rapamycin was given to achieve stable plasma levels between 4 and 8 ng/ml. AML volume was estimated using orthogonal measurements by MRI at baseline, 6, 12 and 24 months.
resultsTen out of 17 patients were success responders for the main outcome -58.8%, 95%CI: 32.9% to 81.6%-. After 6 months of therapy, the mean volume decrease was 55.18% (5.01 standard error (SE); p<0.001) and 66.38% (4.41 SE; p<0.001) at year 1. There was no significant decrease between year 1 and 2. According to RECIST criteria, all patients achieved a partial response at year 1 and all but two had already achieved this partial response after 6 months.The main analysis was performed according to the intention-to-treat principle analysis. Tumour volume was analyzed over time by means of mixed models for repeated measurement analysis. We used the baseline tumour volume as a covariate for the absolute change and percentage change from baseline data. The analysis was performed using SAS version 9.2 software, and the level of significance was established at 0.05 (two-sided).
conclusionsThis study show that mTOR inhibitors are a relatively safe, efficacious and less aggressive alternative than currently available options in the management of AML in TS.
trial registrationEudraCT number: 2007-005978-30, ClinicalTrials.gov number: NCT0121712.
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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.