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

Study Purpose

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

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

No
Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

Observational
Eligible Ages N/A - 17 Years
Gender All
More Inclusion & Exclusion Criteria

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.

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

NCT06764602
Phase

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

IRCCS Azienda Ospedaliero-Universitaria di Bologna
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Andrea Pasini, MD
Principal Investigator Affiliation IRCCS Azienda Ospedaliero-Universitaria di Bologna
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Other
Overall Status Recruiting
Countries Italy
Conditions

The disease, disorder, syndrome, illness, or injury that is being studied.

Tuberous Sclerosis Complex (TSC)
Additional Details

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.

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International Sites

Bologna, Italy

Status

Recruiting

Address

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, , 40138

Site Contact

Andrea Pasini, MD

andrea.pasini@aosp.bo.it

00390512144613

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