ClinicalTrials.gov record NCT06764602

Observational, Retrospective, Multicenter, Nonprofit Study on the Prevalence of Renal Involvement in Pediatric Patients With Tuberous Sclerosis

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

AgeUp to 17 years old

SexAll

LocationItaly

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a retrospective, multicenter observational study that looks at kidney problems in children with tuberous sclerosis. The primary aim is to measure how common angiomyolipomas and renal cysts are in pediatric TSC. The study also examines links with genetic changes, renal function and blood pressure outcomes, and changes in angiomyolipoma size in children on Everolimus for neurological issues.

What it is studying. How common kidney abnormalities (angiomyolipomas and cysts) are in children with TSC; whether genetic alterations correlate with those findings; the renal outcomes measured by kidney function and blood pressure; and how angiomyolipoma volume changes in children treated with Everolimus for neurological complications.

What the researchers hope to learn. To estimate the prevalence of angiomyolipomas and renal cysts in pediatric TSC patients; to evaluate correlations between genetic alterations and kidney findings; to describe renal outcomes (kidney function and blood pressure) in children with renal involvement; and to assess angiomyolipoma volume change in children on Everolimus prescribed for neurological complications.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

Observational, retrospective, multicenter, nonprofit study on the prevalence of renal involvement in pediatric patients with tuberous sclerosis.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

Patients of either sex under the age of 17 years at the time of last observation (06/30/2021);
Patients clinically evaluated in an outpatient or inpatient setting during 01/01/2018- 30/06/2021 with a diagnosis of TSC;
Informed consent signed by parent or legal guardian.

Exclusion criteria

Patients older than 18 years of age;
Patients with other phacomatoses.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a retrospective review of past medical records. The study team will collect and analyze existing clinical data from the listed time window — for example imaging reports, genetic test results, blood pressure and kidney function records, and treatment history (including Everolimus if recorded). The registry does not describe any new tests, treatments, or invasive procedures for participants. A parent or legal guardian must provide informed consent for record use.

How the study is structured. An observational, retrospective cohort study using past clinical records from multiple centers. No treatments are assigned by the study; investigators will review existing clinical data and imaging from the specified observation period to assess kidney findings and related measures.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on tuberous sclerosis complex

Clinical trials30 trials listed for tuberous sclerosis complexEvery trial the registry lists for tuberous sclerosis complex, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in tuberous sclerosis complex researchLatest monthly update: September 2026. Includes: CBD add-on therapy. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Jul 1, 2021
Primary completion: Dec 31, 2025 (estimated)
Study completion: Dec 31, 2025 (estimated)
Target enrollment: 80 participants (estimated)
Last updated on registry: Jan 8, 2025
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Andrea Pasini, MD 📞 00390512144613 ✉ andrea.pasini@aosp.bo.it

Participating sites (1)

IRCCS Azienda Ospedaliero-Universitaria di BolognaRecruiting
Bologna, 40138 · Italy
- Andrea Pasini, MD · 00390512144613 · andrea.pasini@aosp.bo.it
- Andrea Pasini, MD

Terms used on this page · explanations by MedicalUpdates.ai

Informed consent: The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
legal guardian: A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
Inclusion Criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
follow-up: The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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