Tuberous Sclerosis Complex Natural History Study: Renal Manifestations

NCT00598455 | Completed

• 2 other identifiers: TS0500008W81XWH-06-1-0538
• Study Type: observational
• Target: 450
• Locations: 1 country
• Sites: 1

Brief Summary

Eighty percent of patients with tuberous sclerosis complex (TSC) have renal angiomyolipomata. These lesions grow and can lead to significant morbidity by hemorrhage or renal failure. Understanding the natural history of these lesions and understanding which lesions may be more prone to grow quickly or develop aneurysms that predispose to hemorrhage will greatly assist clinical care of patients with TSC. The objective is to test the hypothesis that serial MR and CT imaging will allow objective, reproducible quantification of angiomyolipoma growth by volumetric analysis, and analysis of lesions characteristics will identify angiomyolipomata with rapid growth potential that would require intervention. The specific aim of this proposal is to collect clinically obtained serial abdominal imaging from the Tuberous Sclerosis Natural History Consortium Centers and analyze the volume and adiposity of the individual angiomyolipomata. The growth rate is hypothesized to have an inverse relationship to adiposity. Yearly renal MR or CT imaging will be performed of patients with TSC. The images will be coded at the site of acquisition, and transferred via VPN to a secure server at Cincinnati Children's Hospital Medical Center. Using innovative imaging processing software (Cincinnati Children's Hospital Image Processing Software (CCHIPS), the image data will be segmented to reveal various tissue components based on signal intensities. Different signal intensities can differentiate normal renal parenchyma, and renal angiomyolipomata. Using the imaging data and the novel software, the volume of an individual angiomyolipoma, as well as the adiposity will be determined. Imaging at enrollment (year 1) will serve as baseline. At years two and three, the lesions will undergo repeat analysis. Angiomyolipoma growth rates and adiposity over three years will be analyzed to test the hypothesis above.

Conditions

Tuberous Sclerosis Complex

Keywords

angiomyolipomata; tuberous sclerosis complex

Eligibility Criteria

• Age: 7 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

a. The target population for this study will be patients with tuberous sclerosis who attend a tuberous sclerosis clinic that is part of the consortium. The data collected will include routine imaging data, age, gender, and if know, the genotype. Approximately 855 patients throughout the United States will be asked to participate in this natural history study and 450 of those are anticipated to consent and have complete data on 3 years of CT and MR Imaging Scans to measure angiomyolipoma growth and adiposity.

You may qualify if:

• Patients who receive yearly follow-up at their respective tuberous sclerosis clinic. Such clinics have a director who is knows their patients well.
• Patients known to have an angiomyolipoma between the ages of 7-
• years
• Pregnant women to be included if tested with MR

You may not qualify if:

• Patients who are not seen annually and therefore do not have yearly imaging.
• Patients who do not have an angiomyolipoma.
• Patients who are not likely to follow-up as recommended.
• Use of an investigational drug, including rapamycin, within the last 30 days.
• Pregnant women to be excluded if they cannot be tested with MR

Sponsors & Collaborators

• Children's Hospital Medical Center, Cincinnati: lead
• Loma Linda University: collaborator
• Massachusetts General Hospital: collaborator
• Boston Children's Hospital: collaborator
• University of Alabama at Birmingham: collaborator
• University of Pennsylvania: collaborator
• Connecticut Children's Medical Center: collaborator
• The University of Texas Health Science Center, Houston: collaborator

Study Sites (1)

Cincinnati Children's

Cincinnati, Ohio, 45229, United States

Location

MeSH Terms

Conditions

Tuberous Sclerosis

Condition Hierarchy (Ancestors)

Hamartoma; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Nervous System Diseases; Neurocutaneous Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• John J Bissler, M.D.

  Children's Hospital Medical Center, Cincinnati

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 27, 2007
• First Posted: January 22, 2008
• Study Start: February 1, 2008
• Primary Completion: September 1, 2013
• Study Completion: September 1, 2013
• Last Updated: May 4, 2017

Record last verified: 2017-05

Locations

US (1)