Clinical trial · Observational
Studies in Patients With Tuberous Sclerosis Complex
Studies in Patients With Rett Syndrome, Tuberous Sclerosis Complex, Neurofibromatoses, and Other Neurodevelopmental Disorders
NCT03276195CI-TRIAL-00071782completedClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Tuberous Sclerosis Complex | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (2)
- label
- Familial TSC and families
- description
- Individuals with familial TSC including those with a clinical diagnosis but no genetic confirmation and individuals with a genetic diagnosis
- label
- Sporadic TSC and families
- description
- Individuals with sporadic TSC including those with a clinical diagnosis but no genetic confirmation and individuals with a genetic diagnosis
Primary outcomes (1)
- measure
- Next Generation Sequencing to Measure Phenotypic Variability
- timeFrame
- Up to 4 Years
- description
- Identify genetic variants and disease mechanisms responsible for phenotypic variability among patients who are diagnosed with Tuberous Sclerosis Complex (TSC) and their family members.
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: * 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. Exclusion Criteria: * Individuals that are 18 years or older that lack the capacity to consent for themselves.
References
Publications (0)
Data not yet available
No reference posted for this study.