NCT03276195Completed
Studies in Patients With Tuberous Sclerosis Complex
Studies in Patients With Rett Syndrome, Tuberous Sclerosis Complex, Neurofibromatoses, and Other Neurodevelopmental Disorders
Source: ClinicalTrials.gov · Last updated 29 Nov 2023
Brief summary (registry, in English)
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.
- Status (registry)
- Completed
- Study type
- Observational
- Enrollment
- 32 (actual)
- First submitted
- 28 Apr 2017
- Start date
- 1 May 2016
- Primary completion date
- 27 Nov 2023
- Lead sponsor
- Translational Genomics Research Institute
- NCT number
- NCT03276195
What you commit to
- Study type: Observational
- Participants enrolled: 32
- From 1 May 2016 to the primary completion date, 27 Nov 2023
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- Individuals that are 18 years or older that lack the capacity to consent for themselves.
Who the study is looking for
- 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.
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Translational Genomics Research Institute (TGen) Coordinator of this site? Confirm its status | Phoenix | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.