An observational study in Tuberous Sclerosis Complex (TSC), sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna. Recruiting at 1 site in Italy. Open to participants aged Up to 17 Years. Per ClinicalTrials.gov, last updated 2025-01-08.
Sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Observational
Observational, retrospective, multicenter, nonprofit study on the prevalence of renal involvement in pediatric patients with tuberous sclerosis.
Tuberous sclerosis (TSC) is an autosomal dominant transmission neurocutaneous syndrome caused by mutations in the TSC1 (9q34) and TSC2 (16p13.3) genes. Renal involvement in tuberous sclerosis is frequent and consists of the presence of angiomyolipomas, cysts, increased risk of renal carcinoma (predominantly clear cell renal cell carcinoma), and proteinuria in the absence of angiomyolipomas or cysts, which may evolve into chronic kidney disease. Renal involvement in tuberous sclerosis is often asymptomatic, and in most cases the finding of angiomyolipomas, cysts, or changes in renal function is an occasional finding on examinations performed during follow-up. Angiomyolipomas are the most frequent form of renal involvement in tuberous sclerosis and, when symptomatic, cause potentially fatal hemorrhages (intratumoral or retroperitoneal), anemia, hypertension, hematuria, and renal failure due to subversion of the renal parenchyma.
The renal picture of TSC (hemorrhage, end-stage renal disease, and metastasis to renal carcinoma) is the second leading cause of death in pediatric TSC patients, after neurological, and the first in the adult population. Data regarding renal involvement in the pediatric population with TSC are scarce in the literature.
This study aims to assess the prevalence of renal involvement in pediatric TSC patients. More in detail, the primary aim is to assess the prevalence of angiomyolipomas and renal cysts in pediatric TSC patients. The secondary aims are to evaluate the correlation between genetic alteration and the presence of angiomyolipomas and renal cysts in TSC patients; to evaluate the renal outcome in terms of renal function and blood pressure in pediatric TSC patients with renal involvement; to evaluate the volume change of angiomyolipomas in pediatric patients with TSC on Everolimus therapy prescribed for neurological complications.
115 studies on the registry are indexed under Tuberous Sclerosis; 27 are open to participants now.
This study's planned enrollment of 80 is below the median of 150 across 37 observational studies indexed under Tuberous Sclerosis.
Browse Tuberous Sclerosis studies →IRCCS Azienda Ospedaliero-Universitaria di Bologna is the lead sponsor of 511 studies on the registry; 287 are open to participants now.
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Since this is a descriptive study, a formal calculation of sample size is not expected. However, about 40-80 subjects are expected to be enrolled.
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You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Stage of angiomyolipoma
0-6
Time frame: at baseline
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