An observational study in Tuberous Sclerosis Complex, sponsored by Translational Genomics Research Institute. Completed at 1 site in United States. Per ClinicalTrials.gov, last updated 2023-11-29.
Sponsored by Translational Genomics Research Institute · Observational
Among 63 studies in Tuberous Sclerosis with a site in United States — 9 open to participants now, 16 under way, 1 of them phase 3. Tuberous Sclerosis · United States.
Among the 63 studies in Tuberous Sclerosis with a site in United States, this one is the 14th largest by enrollment of the 15 observational ones, is one of 5 that started in 2016, is one of 15 observational ones, and was the 36th registered.
115 studies on the registry are indexed under Tuberous Sclerosis; 27 are open to participants now.
This study's enrollment of 32 is below the median of 150 across 37 observational studies indexed under Tuberous Sclerosis.
Browse Tuberous Sclerosis studies →9 of the 63 studies in Tuberous Sclerosis with a site in United States are open now, in 3 countries. Each count lists the studies.
Of the 21 Tuberous Sclerosis studies recruiting now, 10 (48%) set no upper age limit and 8 (38%) stop at 75 or younger; 15 take children under 18; 2 take healthy volunteers.
This study: all sexes · no healthy volunteers.
The full table on the hub →63 studies; the count open now beside each. This study's row is marked.
First in 1995; this study’s year is marked. 5 started in 2016.
Median enrollment 52 across the 47 interventional studies, 300 across the 15 observational. Of the 44 that completed or were terminated, 25 (57%) have results posted.
20 of 63 have an industry lead sponsor. The 10 most frequent:
Translational Genomics Research Institute is the lead sponsor of 4 studies on the registry; 1 is open to participants now.
Translational Genomics Research Institute has 1 study filed under Tuberous Sclerosis — fewer than ten, so there is no comparison to draw.
5 of the studies in Tuberous Sclerosis with a site in United States that are under way reach primary completion within a year, 1 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT02962414Phase 3Novartis PharmaceuticalsRoll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment | 2026-12-30 |
| NCT06139172Rush University Medical CenterWeb Intervention for Parents of Youth With Genetic Syndromes (WINGS) | 2026-12 |
| NCT06879665Vrije Universiteit BrusselTANDem-2: Closing the Gap to Interventions for TAND | 2026-12-31 |
| NCT05104983Darcy KruegerStopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study | 2027-06-30 |
| NCT05044819Jazz PharmaceuticalsAssessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution | 2027-08-01 |
Among the 63 studies in Tuberous Sclerosis with a site in United States, from their registry updates:
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.
Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder, caused by heterozygous mutations in at least two different genes, TSC1, and TSC2. It is estimated to affect 1 in 6000, and demonstrates both phenotypic and genetic heterogeneity. It is characterized by a variety of symptoms including skin lesions, renal angiomyolipomas, cardiac rhabdomyomas, seizures, and cognitive delay (mental retardation, autism, and behavior problems). The severity of the disease varies widely among patients with TSC in general, and variability in phenotype is detectable within single families, where all affected individuals have the same TSC1 or TSC2 mutation. Neurocognitive phenotypes in TSC vary from profound mental retardation, intractable epilepsy, and autism, to normal cognition and only a mild behavioral phenotype. However, the basis of this phenotypic variability is not understood. There is a growing body of literature implicating genetic variation in "modifier genes" as an agent for phenotypic heterogeneity in Mendelian disorders, such as TSC. The role of genetic modifiers on disease severity has not yet studied in familial TSC and sporadic TSC. This study is aimed to carry out a systematic study to examine the effects of genetic variants other than TSC genes on phenotypic variability in familial TSC patients (affected parent, child and unaffected siblings) and sporadic TSC. The main objectives of the study are:
To identify genetic variants that differentiate disease severity using next generation sequencing (NGS) in DNA, and gene expression profile in RNA from blood to identify disease-causing heterozygous TSC(1 or 2) mutation in parent-child (P-C) pairs and sporadic cases with a mild and severe form of the disease. Use of next-generation sequencing (NGS) along with improved data analysis in this proposal will overcome many of the barriers in identifying genetic modifiers. The investigators will also study cultured fibroblasts cells and buccal swabs from P-C pairs to validate the findings. Use of next-generation sequencing (NGS) along with improved data analysis in this proposal will overcome many of the barriers in identifying genetic modifiers. This research has the potential to address a critical scientific gap in understanding the phenotypic variability The investigators may be able to develop a "molecular profile" that correlates with and predicts disease severity. The findings may provide a tool for early prediction of disease severity, allowing for the use of disease modifying treatments that may prevent the development of a severe neurocognitive phenotype.
As this is not a treatment protocol, there is no primary endpoint.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Individuals with familial TSC including those with a clinical diagnosis but no genetic confirmation and individuals with a genetic diagnosis
Individuals with sporadic TSC including those with a clinical diagnosis but no genetic confirmation and individuals with a genetic diagnosis
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.
Time frame: Up to 4 Years
Plan to share: Yes — De-identified participant study data will be published to a central data repository that allows qualified research scientists to access and look at the data under controlled access.
Time frame: 6 months after completion of the study
Access criteria: This data will be available to qualified researchers under controlled access
No publications or documents are linked to this record.
Ran from May 2016 to primary completion in Nov 2023, 90 months.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Nov 2023. You cannot join it, but the record below documents what was studied.
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Translational Genomics Research Institute