Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)

Learn more about:
Related Clinical Trial
Clinical Study of NPC-12Y Gel in Patients With Skin Lesions Associated With TSC Feasibility of [11C]Acetate-Positron Emission Tomography (PET) in Lymphangioleiomyomatosis and Tuberous Sclerosis Complex Lymphangioleiomyomatosis, a Study on Cathepsin K Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy KidneYou – Innovative Digital Therapy Gait in Rare Diseases Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution Efficacy and Safety of Rapamycin Versus Vigabatrin in the Prevention of Tuberous Sclerosis Complex Symptoms in Infants Doxycycline In Lymphangioleiomyomatosis (LAM) Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women Turmeric as Treatment in Epilepsy Study of the Disease Process of Lymphangioleiomyomatosis RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM The Effectiveness and Safety of Vagus Nerve Stimulation for TRE The Effectiveness and Safety of Resective Epilepsy Surgery for TRE 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 Adjunctive Ganaxolone Treatment (Part A) in TSC Followed by Long-term Treatment (Part B) Safety of Simvastatin in LAM and TSC Studies of Autistic Patients: Gene Networks and Clinical Subtypes Topical Rapamycin to Erase Angiofibromas in TSC Rapalogues for Autism Phenotype in TSC: A Feasibility Study A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Everolimus for Cancer With TSC1 or TSC2 Mutation Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex The Cognitive Variability in NF1 and TSC Monozygotic Twins Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Phase III Trial of Topical Formulation of Sirolimus to Skin Lesions in Patients With Tuberous Sclerosis Complex (TSC) Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1) Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy – Tuberous Sclerosis Complex A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex Early Behavioral Intervention to Improve Social Communication Function in Infants With Tuberous Sclerosis Complex Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC) Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex JASPER Early Intervention for Tuberous Sclerosis Studies in Patients With Tuberous Sclerosis Complex Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Efficacy and Safety of Everolimus (RAD001) in Patients of All Ages With Subependymal Giant Cell Astrocytoma Associated With Tuberous Sclerosis Complex (TSC)(EXIST-1) Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex (TuScCom) Early Biomarkers of Autism in Infants With Tuberous Sclerosis Complex (TSC) Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC) Study of Skin Tumors in Tuberous Sclerosis

Brief Title

Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)

Official Title

Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)

Brief Summary

      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.

Detailed Description

      Tuberous Sclerosis Complex (TSC) is a multi-system disease that usually exhibits a high
      variability in clinical findings both among and within families. About 50% of individuals
      with TSC develop intellectual disability (ID) and/or autism spectrum disorder (ASD). The
      purpose of this research study is to learn more information about ASD/ID in individuals with
      TSC through neurobehavioral assessments, electroencephalogram (EEG) data, and magnetic
      resonance imaging so that ultimately effective treatments and interventions for ASD/ID can be

      Individuals with TSC will be asked to participate in this study if they are 18 months or
      older at the time of enrollment and have been diagnosed with suspected or confirmed autism
      spectrum disorder and/or intellectual disability, as well as healthy controls. Both males and
      females will be asked to participate. Additionally, to be eligible for study participation,
      individuals' primary communicative language must be English. The participant and at least one
      biological parent will be asked to provide biological specimens including DNA and RNA for
      inclusion in the TSC RDCRN Biorepository.

      The study involves 3 on site visits over the course of two years. Study visits will vary in
      length from about 4 hours to 6 hours. Study visits involve a physical exam, medical history
      questions, and neuropsychological assessments. A subset of participants between the ages of 2
      and 11 years old will take part in the EEG portion of the study. At one point during the
      study, a blood draw will be done for future research studies. Individuals who have a
      clinically indicated MRI will have an option to provide routine clinical scans for analysis.

Study Type


Primary Outcome

Change in ADOS-2 scores at end of study


Tuberous Sclerosis

Study Arms / Comparison Groups

 Tuberous Sclerosis Complex
Description:  Tuberous Sclerosis Complex


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

May 2015

Completion Date

December 2025

Primary Completion Date

December 2024

Eligibility Criteria

        Inclusion Criteria:

          -  Meets genetic or clinical diagnostic criteria for TSC (Tuberous Sclerosis), the latter
             based on current recommendations for diagnostic evaluation, such as physical exam,
             neuroimaging, and echocardiogram.

          -  Age criteria: over 18 months of age at time of enrollment.

          -  Is diagnosed or suspected to have ASD and/or ID.

          -  Primary communicative language is English

        Exclusion Criteria:

          -  Has taken an investigational drug as part of another research study, within 30 days
             prior to study enrollment.

          -  For subjects involved in imaging biomarker assessment: contraindications to 3T MRI
             scanning, such as metal implants/non-compatible medical devices or medical conditions,
             including vagus nerve stimulator.

          -  For subjects involved in EEG/ERP biomarker assessment: contraindications to EEG/ERP,
             such as uncooperative or destructive behaviors preventing lead placement or capture by
             ERP/VEP equipment. Under age 2 or above age 11 at the time of enrollment.

          -  Unwilling or unable to comply with study procedures and assessments.




18 Months - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers


Darcy Krueger, MD, PhD, 617-919-7068, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Responsible Party

Principal Investigator

Study Sponsor

Boston Children's Hospital


 National Institutes of Health (NIH)

Study Sponsor

Darcy Krueger, MD, PhD, Study Chair, Children's Hospital Medical Center, Cincinnati

Verification Date

July 2021