Tuberous Sclerosis clinical trials at University of California Health
12 in progress, 8 open to eligible people
Assessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) in Children With Tuberous Sclerosis Complex (TSC), Dravet Syndrome (DS), or Lennox-Gastaut Syndrome (LGS) Who Experience Inadequately-controlled Seizures
open to eligible people ages 1 month to 23 months
This study will be conducted to evaluate the safety, pharmacokinetics (PK), and efficacy of adjunctive GWP42003-P in participants < 2 years of age with tuberous sclerosis complex (TSC), Lennox-Gastaut syndrome (LGS), or Dravet syndrome (DS).
open to eligible people ages 5-30
The study intends to show that basimglurant provides effective seizure control in children, adolescents and young adults with Tuberous Sclerosis Complex (TSC).
Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1 or TSC2 Genes (PRECISION 1)
open to eligible people ages 12 years and up
A Phase 2 multi-center open-label basket trial of nab-sirolimus for adult and adolescent patients with malignant solid tumors harboring pathogenic inactivating alterations in TSC1 or TSC2 genes
at UCLA UCSF
open to eligible people ages up to 6 months
This trial is a Phase II randomized, double-blind, placebo controlled multi-site study to evaluate the safety and efficacy of early sirolimus to prevent or delay seizure onset in TSC infants. This study is supported by research funding from the Office of Orphan Products Division (OOPD) of the US Food and Drug Administration (FDA).
open to eligible people ages 12 months to 36 months
The investigators propose a study to adapt an evidence-based caregiver training program to improve access in order to better serve the TSC community. The proposed adapted caregiver training program is based on a targeted behavioral intervention called JASPER (Joint attention, symbolic play, engagement, and regulation) that has successfully improved outcomes in children with ASD. Importantly, JASPER specifically targets two key developmental domains known to be critical for young children with TSC, social communication and play. Recent work with JASPER in children with TSC shows promise, but still requires a commitment to regular in-person sessions. The investigators hope to test an adapted version of the caregiver training version of JASPER, where the entire training is provided remotely through weekly teleconferences and video feedback. The investigators goal is to determine if remote caregiver training can improve social engagement and communication between caregivers and their child with TSC. The investigators hope that by adapting the caregiver training version of JASPER to be delivered through telehealth methods, the investigators can help more families gain access to high quality training. There is a tremendous need for high quality early intervention, and remote caregiver training can give families the skills they need to make impactful and lasting improvements for their child with TSC. The investigators will recruit 66 children, 22 per year whom have been clinically diagnosed with TSC, are 12-36 months of age, English as primary language at home, and have one parent available for weekly remote video conferencing. Participants that meet criteria will be asked to complete assessments from their home (kits will be mailed to them), which will take several sessions (approximately 2.5 hours). During these assessment sessions via Zoom, participants will be shown how to do BOSA, SPACE and CCX assessments. A Vineland and Ages and Stages Questionnaire will also be done during these sessions, but it's just questionnaires. The SPACE and CCX are particulary important because the participants will have to record themselves throughout the study doing these assessments. A brief introduction to JASPER will also be given during this period of assessments. Randomization will occur after assessments are complete. Participants randomized to intervention will need to meet with the research staff for 12 weeks via Zoom to discuss their recorded sessions. Each participant in the intervention group is expected to submit (via UCLA Box) a 30-40 minute video doing JASPER with their child. These videos will be discussed during the Zoom calls. The group not randomized to intervention, will continue to care for their child as usual for those 12 weeks. They will not need to record or meet via Zoom with the research staff. At the end of the 12 weeks, all participants will record themselves doing the two assessments that were taught at UCLA. They will do and record these assessments again 12 weeks after that in the 3-month follow up. The total study is for 6 months.
open to all eligible people
Refractory epilepsy, meaning epilepsy that no longer responds to medication, is a common neurosurgical indication in children. In such cases, surgery is the treatment of choice. Complete resection of affected brain tissue is associated with highest probability of seizure freedom. However, epileptogenic brain tissue is visually identical to normal brain tissue, complicating complete resection. Modern investigative methods are of limited use. An important subjective assessment during surgery is that affected brain tissue feels stiffer, however there is presently no way to determine this without committing to resecting the affected area. It is hypothesized that intra-operative use of a tonometer (Diaton) will identify abnormal brain tissue stiffness in affected brain relative to normal brain. This will help identify stiffer brain regions without having to resect them. The objective is to determine if intra-operative use of a tonometer to measure brain tissue stiffness will offer additional precision in identifying epileptogenic lesions. In participants with refractory epilepsy, various locations on the cerebral cortex will be identified using standard pre-operative investigations like magnetic resonance imagin (MRI) and positron emission tomography (PET). These are areas of presumed normal and abnormal brain where the tonometer will be used during surgery to measure brain tissue stiffness. Brain tissue stiffness measurements will then be compared with results of routine pre-operative and intra-operative tests. Such comparisons will help determine if and to what extent intra-operative brain tissue stiffness measurements correlate with other tests and help identify epileptogenic brain tissue. 24 participants have already undergone intra-operative brain tonometry. Results in these participants are encouraging: abnormally high brain tissue stiffness measurements have consistently been identified and significantly associated with abnormal brain tissue. If the tonometer adequately identifies epileptogenic brain tissue through brain tissue stiffness measurements, it is possible that resection of identified tissue could lead to better post-operative outcomes, lowering seizure recurrences and neurological deficits.
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
open to eligible people ages 18 months and up
The purpose of this study is to characterize the developmental phenotype of ASD and ID and to identify biomarkers using advanced MRI methodology and electrophysiological biomarkers of synaptic function and connectivity predictive of ASD and ID presence and severity in patients with TSC. In addition, this study will be establishing infrastructure for the collection and storage of human bio-specimens, including genetic material, from TSC patients and their family members with ASD.
open to all eligible people
The TSC Biosample Repository collects and stores samples of blood, DNA, and tissues that scientists can request to use in their research. The samples we collect are all linked to clinical data in the TSC Natural History Database. The TSC Natural History Database captures clinical data to document the impact of the disease on a person's health over his or her lifetime. This data may be collected retrospectively or prospectively.
at UCLA UCSF
Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy (TrustTSC)
Sorry, not currently recruiting here
This is a Phase 3, global, double-blind, randomized, placebo-controlled study of adjunctive GNX treatment in children and adults with TSC-related epilepsy. The study consists of a 4-week prospective baseline phase, defined as the first 28 days following screening, followed by a double-blind phase consisting of a 4-week titration period (with 2 additional weeks allowed, if necessary, for tolerance) and a 12-week maintenance period.
Open-label Study of Adjunctive GNX Treatment in Children and Adults With TSC-related Epilepsy (TrustTSC OLE)
Sorry, accepting new patients by invitation only
This is a Phase 3, global, open-label extension (OLE) study of adjunctive GNX treatment in children and adults with TSC who previously participated in either Study 1042-TSC-3001 or Study 1042-TSC-2001
Sorry, in progress, not accepting new patients
Study design is a Phase IIb prospective multi-center, randomized, placebo-controlled, double-blind clinical trial. The goal will be to enroll 80 infants with Tuberous Sclerosis Complex who are less than 6 months of age prior to the onset of their first seizure
Roll-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
Sorry, in progress, not accepting new patients
The purpose of this study is to evaluate the long-term safety in patients with TSC and refractory seizures who are currently receiving everolimus treatment in the Novartis-sponsored EXIST-3 study and who are determined to be benefiting from continued treatment as judged by the investigator at the completion of EXIST-3
at UCLA UCSF