Studies in Patients With Tuberous Sclerosis Complex

NCT03276195 | Completed DMC

• 1 other identifier: vnarayanan15-016
• Study Type: observational
• Target: 32
• Locations: 1 country
• Sites: 1

Brief Summary

This study is aimed to carry out a systematic study to examine the effects of genetic variants (genetic modifiers) other than TSC genes on phenotypic variability in familial TSC patients (affected parent, child and unaffected siblings) and sporadic TSC.

Conditions

Tuberous Sclerosis Complex

Keywords

Neurodevelopmental Disorder; Genomics; Genetics

Outcome Measures

Primary Outcomes (1)

• Next Generation Sequencing to Measure Phenotypic Variability

  Identify genetic variants and disease mechanisms responsible for phenotypic variability among patients who are diagnosed with Tuberous Sclerosis Complex (TSC) and their family members.

  Up to 4 Years

Study Arms (2)

Familial TSC and families

Individuals with familial TSC including those with a clinical diagnosis but no genetic confirmation and individuals with a genetic diagnosis

Sporadic TSC and families

Individuals with sporadic TSC including those with a clinical diagnosis but no genetic confirmation and individuals with a genetic diagnosis

Eligibility Criteria

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

Study Population

This study will enroll subjects affected with Tuberous Sclerosis Complex (either familial or sporadic) and biological relatives (primarily the individual's parents or siblings). This study will consist of 1000 families who have an individual affected with TSC and wish to donate samples.

You may qualify if:

• Diagnosis of familial TSC or sporadic TSC, or a biological relative of a person diagnosed with such a disorder.
• Willingness and ability to donate biospecimens to TGen for the purpose of propelling research. The minimum biospecimen donation capability is saliva and/or cheek swab. In most cases, blood or other tissue (skin biopsy) may be the ideal sample for study.

You may not qualify if:

• Individuals that are 18 years or older that lack the capacity to consent for themselves.

Sponsors & Collaborators

• Translational Genomics Research Institute: lead
• United States Department of Defense: collaborator

Study Sites (1)

Translational Genomics Research Institute (TGen)

Phoenix, Arizona, 85004, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Participant samples for this study may include blood, urine or saliva. An optional skin biopsy may also be collected. Additional samples (such as cerebrospinal fluid, muscle biopsies, and brain tissue) can be used when they are collected as part of a clinically indicated procedure. Where possible, parents of a child will be enrolled to identify genetic variants (genetic modifiers). These and other biological relatives will be asked to donate blood samples and optional skin biopsy samples for study participation. If the relative is unable to donate a blood sample, a saliva sample can be collected instead.

MeSH Terms

Conditions

Tuberous Sclerosis; Neurodevelopmental Disorders

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; Mental Disorders

Study Officials

• Vinodh Narayanan

  Translational Genomics Research Institiute (TGen)

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: April 28, 2017
• First Posted: September 8, 2017
• Study Start: May 1, 2016
• Primary Completion: November 27, 2023
• Study Completion: November 27, 2023
• Last Updated: November 29, 2023

Record last verified: 2023-11

Data Sharing

• IPD Sharing: Will share
• Time Frame: 6 months after completion of the study
• Access Criteria: This data will be available to qualified researchers under controlled access

Locations

US (1)