Tuberous Sclerosis Complex (TSC)NCT06764602
Observational, Retrospective, Multicenter, Nonprofit Study on the Prevalence of Renal Involvement in Pediatric Patients With Tuberous Sclerosis
An observational study of Tuberous Sclerosis Complex (TSC), run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site in Italy.
Trial summary
Observational, retrospective, multicenter, nonprofit study on the prevalence of renal involvement in pediatric patients with tuberous sclerosis. Read more about this study
- Who is it for?
- Ages Up to 17 years
- Conditions the study is for
- Tuberous Sclerosis Complex (TSC)
- How many people
- 80 participants
- Where
- 1 siteItaly
- Study dates
- 1 Jul 2021to 31 Dec 2025
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 17 years
- All sexes
- No healthy volunteers
- Child
Study population: 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.
Who may be able to join
- 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.
Who cannot join
- Patients older than 18 years of age;
- Patients with other phacomatoses.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, 40138
Andrea Pasini, MD, 00390512144613, andrea.pasini@aosp.bo.it
Andrea Pasini, MD
About this study
Observational, retrospective, multicenter, nonprofit study on the prevalence of renal involvement in pediatric patients with tuberous sclerosis.
Read the detailed description
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.
- Conditions
- Tuberous Sclerosis Complex (TSC)
- Keywords
- Tuberous Sclerosis Complex, Nephropathy, Children
- Medical subject headings
- Tuberous Sclerosis, Kidney Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Stage of angiomyolipoma
0-6
Measured: at baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jan 2025
- Study start1 Jul 2021
- Primary completion31 Dec 2025 (estimated)
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Tuberous Sclerosis Complex (TSC)Studies of the same condition, open and under way.
- More trials run by IRCCS Azienda Ospedaliero-Universitaria di BolognaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Andrea Pasini, MD, Principal investigator, IRCCS Azienda Ospedaliero-Universitaria di Bologna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06764602
- Sponsor's protocol ID
- TSC-PED-2021-01
- Status last verified
- Dec 2024
- First submitted
- 2 Jan 2025
- Last updated
- 8 Jan 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational, Retrospective, Multicenter, Nonprofit Study on the Prevalence of Renal Involvement in Pediatric Patients With Tuberous Sclerosis
- ClinicalTrials.gov ID
- NCT06764602
- Acronym / sponsor ID
- TSC-PED-2021-01
- Conditions
- Tuberous Sclerosis Complex (TSC)
- Keywords
- Tuberous Sclerosis Complex, Nephropathy, Children
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di BolognaUniversity, hospital or other
- Study start
- 1 Jul 2021 (actual)
- Primary completion
- 31 Dec 2025 (estimated)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 8 Jan 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Observational, retrospective, multicenter, nonprofit study on the prevalence of renal involvement in pediatric patients with tuberous sclerosis.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- Up to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- 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.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- Patients older than 18 years of age;
- Patients with other phacomatoses.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Stage of angiomyolipoma
Time frame: at baseline
0-6
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jan 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Andrea Pasini, MD principal investigator
IRCCS Azienda Ospedaliero-Universitaria di Bologna
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Tuberous Sclerosis Complex (TSC), run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 8 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Andrea Pasini, MD (00390512144613, andrea.pasini@aosp.bo.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Stage of angiomyolipoma (time frame: at baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jan 2025.