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Tuberous sclerosis (also called tuberous sclerosis complex, or TSC) is a rare, multi-system genetic disease that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.

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Prevalence

1-9 / 100,000

33,100 - 165,500

US Estimated

1-9 / 100,000

51,350 - 256,750

Europe Estimated

Age of Onset

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ICD-10

Q85.1

Inheritance

Autosomal dominant

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Autosomal recessive

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Mitochondrial/Multigenic

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X-linked dominant

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X-linked recessive

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5 Facts you should know

FACT

1

TSC is caused by mutations on two genes—TSC1 and TSC2. Only one of the genes needs to be affected for TSC to be present.

FACT

2

Most cases occur as sporadic cases due to new, spontaneous mutations in TSC1 or TSC2.

FACT

3

Benign tumors are most common in the brain, kidneys, heart, lungs, and skin.

FACT

4

Cancerous tumors are rare in TSC and those that do occur primarily affect the kidneys.

FACT

5

Seizures affect most individuals with TSC at some point during their life.

Interest Over Time

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Tuberous Sclerosis
Complex is also know as

Tuberous Sclerosis
Complex is also know as

Bourneville syndrome

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Common Signs & Symptoms

Small bumps made up of blood vessels

(angiofibromas)

Patches of thickened, rough skin

(shagreen patches)

Growths under the fingernails and toenails

(ungual fibromas)

Light colored skin patches

(hypomelanonic macules)

Benign brain tumor

(astrocytoma)

Abnormal organization of the brain

(cortical dysplasia)

Nodules in the brain

(subependymal nodules)

Seizures

Clinical Trials in Tuberous Sclerosis

Trial Name Description Sponsor Status Investigator Contact NCT Number
Studies in Patients With Tuberous Sclerosis Complex 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. Translational Genomics Research Institute United States Department of Defense Recruiting Vinodh Narayanan Translational Genomics Research Institiute (TGen) Keri Ramsey 602-687-8193 kramsey@tgen.org NCT03276195
Study of Skin Tumors in Tuberous Sclerosis Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This study will investigate what causes skin tumors to develop in patients with this disease. National Heart, Lung, and Blood Institute (NHLBI) Uniformed Services University of the Health Sciences Recruiting Joel Moss, M.D. National Heart, Lung, and Blood Institute (NHLBI) Mary Haughey 301-496-3632 mhaughey@nhlbi.nih.gov NCT00001975
JASPER Early Intervention for Tuberous Sclerosis (JETS) The investigators are running an intervention study for young children with Tuberous Sclerosis Complex (TSC). The study will include free play-based behavioral intervention administered remotely that may improve social and communication skills in children with TSC. Eligible families will have a child in the age range of 12-36 months, with a diagnosis of TSC. Children with TSC below 12 months may be eligible for an early markers study prior to enrollment in the intervention trial. The intervention will focus on teaching caregivers skills to improve the social and communication outcomes of their children. The content of the intervention will be individually tailored to the child's developmental level. The intervention involves 4 on-site assessment visits, and 12 weekly intervention sessions, administered in-person and remotely. The intervention focuses on improving social-communication and play skills. University of California, Los Angeles Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Boston Children's Hospital Massachusetts General Hospital Recruiting Shafali Jeste University of California, Los Angeles Carly Hyde 3108258738 chyde@mednet.ucla.edu www.JETSstudy.org JETSstudy@gmail.com NCT03422367
Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants This trial will use a two stage, phase I/II clinical trial design. The first stage will employ an open-label clinical trial design to verify dosing for TAVT-18 (sirolimus) powder for oral solution in TSC infants (N=5). Results will then be carried forward to inform appropriate initial dosing, dosing frequency, and dosing adjustments for the second stage, a 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. Children's Hospital Medical Center, Cincinnati Recruiting Darcy Krueger, MD, PhD Children's Hospital Medical Center, Cincinnati Molly Griffith 513-636-9669 molly.griffith@cchmc.org NCT04595513
Study of the Disease Process of Lymphangioleiomyomatosis Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor. This study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy. Researchers intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals. National Heart, Lung, and Blood Institute (NHLBI) Recruiting Joel Moss, M.D. National Heart, Lung, and Blood Institute (NHLBI) Joel Moss, M.D. (301) 496-1597 mossj@nhlbi.nih.gov NCT00001465
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) 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. Boston Children's Hospital National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) Tuberous Sclerosis Alliance National Center for Advancing Translational Science (NCATS) Office of Rare Diseases (ORD) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Recruiting Darcy Krueger, MD, PhD Children's Hospital Medical Center, Cincinnati Rajna Filip-Dhima, MS 617-919-7068 Rajna.Filip-Dhima@childrens.harvard.edu NCT02461459
Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex The objective of this study is to evaluate the safety and efficacy of sirolimus (0.2% and 0.4% formulations) and its vehicle when applied topically once daily for 12 weeks for the treatment of cutaneous angiofibromas in pediatric subjects with tuberous sclerosis complex (TSC). Aucta Pharmaceuticals, Inc Recruiting Shoufeng Li, Ph.D Aucta Pharmaceuticals, Inc Rosa West 732-652-9225 rosa.west@auctapharma.com Wilson Chang 732-640-6030 wilson.chang@auctapharma.com NCT03363763
Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex The study aims to compare the safety and efficacy of two different strengths of Rapamycin cream, topical and placebo over 26 weeks in the treatment of facial angiofibroma (FA) associated with Tuberous Sclerosis Complex (TSC). Dermatology Specialties Limited Partnership Recruiting Ioana Stanescu Dermatology Specialties Limited Partnership Jennifer Zhang 649 488 0232 ext 710 jenniferz@aftpharm.com NCT03826628
An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) This trial consists of 2 parts: a double-blinded phase and an open-label extension phase. The open-label extension phase only will be described in this record. All participants will receive the same dose of GWP42003-P. However, investigators may subsequently decrease or increase the participant's dose until the optimal dose is found. GW Research Ltd Enrolling by invitation NCT02544750
Safety, Pharmacokinetics, and Exploratory Efficacy Assessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) Compared With Standard of Care Antiepileptic Therapy, in Patients Age 1 Month to <12 Months of Age With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures This study will be conducted to evaluate the safety, tolerability, and pharmacokinetics of GWP42003-P compared with standard of care (SOC) antiepileptic treatment (AET) assessed during the 17-week treatment period. GW Research Ltd Recruiting Medical Enquiries 1-833-424-6724 medinfo.USA@gwpharm.com NCT04485104

Top Clinical Studies

Trial Name Description Sponsor Status Investigator Contact NCT Number
Studies in Patients With Tuberous Sclerosis Complex 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. Translational Genomics Research Institute United States Department of Defense Recruiting Vinodh Narayanan Translational Genomics Research Institiute (TGen) Keri Ramsey 602-687-8193 kramsey@tgen.org NCT03276195
Study of Skin Tumors in Tuberous Sclerosis Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This study will investigate what causes skin tumors to develop in patients with this disease. National Heart, Lung, and Blood Institute (NHLBI) Uniformed Services University of the Health Sciences Recruiting Joel Moss, M.D. National Heart, Lung, and Blood Institute (NHLBI) Mary Haughey 301-496-3632 mhaughey@nhlbi.nih.gov NCT00001975
JASPER Early Intervention for Tuberous Sclerosis (JETS) The investigators are running an intervention study for young children with Tuberous Sclerosis Complex (TSC). The study will include free play-based behavioral intervention administered remotely that may improve social and communication skills in children with TSC. Eligible families will have a child in the age range of 12-36 months, with a diagnosis of TSC. Children with TSC below 12 months may be eligible for an early markers study prior to enrollment in the intervention trial. The intervention will focus on teaching caregivers skills to improve the social and communication outcomes of their children. The content of the intervention will be individually tailored to the child's developmental level. The intervention involves 4 on-site assessment visits, and 12 weekly intervention sessions, administered in-person and remotely. The intervention focuses on improving social-communication and play skills. University of California, Los Angeles Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Boston Children's Hospital Massachusetts General Hospital Recruiting Shafali Jeste University of California, Los Angeles Carly Hyde 3108258738 chyde@mednet.ucla.edu www.JETSstudy.org JETSstudy@gmail.com NCT03422367
Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants This trial will use a two stage, phase I/II clinical trial design. The first stage will employ an open-label clinical trial design to verify dosing for TAVT-18 (sirolimus) powder for oral solution in TSC infants (N=5). Results will then be carried forward to inform appropriate initial dosing, dosing frequency, and dosing adjustments for the second stage, a 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. Children's Hospital Medical Center, Cincinnati Recruiting Darcy Krueger, MD, PhD Children's Hospital Medical Center, Cincinnati Molly Griffith 513-636-9669 molly.griffith@cchmc.org NCT04595513
Study of the Disease Process of Lymphangioleiomyomatosis Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor. This study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy. Researchers intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals. National Heart, Lung, and Blood Institute (NHLBI) Recruiting Joel Moss, M.D. National Heart, Lung, and Blood Institute (NHLBI) Joel Moss, M.D. (301) 496-1597 mossj@nhlbi.nih.gov NCT00001465
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) 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. Boston Children's Hospital National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) Tuberous Sclerosis Alliance National Center for Advancing Translational Science (NCATS) Office of Rare Diseases (ORD) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Recruiting Darcy Krueger, MD, PhD Children's Hospital Medical Center, Cincinnati Rajna Filip-Dhima, MS 617-919-7068 Rajna.Filip-Dhima@childrens.harvard.edu NCT02461459
Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex The objective of this study is to evaluate the safety and efficacy of sirolimus (0.2% and 0.4% formulations) and its vehicle when applied topically once daily for 12 weeks for the treatment of cutaneous angiofibromas in pediatric subjects with tuberous sclerosis complex (TSC). Aucta Pharmaceuticals, Inc Recruiting Shoufeng Li, Ph.D Aucta Pharmaceuticals, Inc Rosa West 732-652-9225 rosa.west@auctapharma.com Wilson Chang 732-640-6030 wilson.chang@auctapharma.com NCT03363763
Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex The study aims to compare the safety and efficacy of two different strengths of Rapamycin cream, topical and placebo over 26 weeks in the treatment of facial angiofibroma (FA) associated with Tuberous Sclerosis Complex (TSC). Dermatology Specialties Limited Partnership Recruiting Ioana Stanescu Dermatology Specialties Limited Partnership Jennifer Zhang 649 488 0232 ext 710 jenniferz@aftpharm.com NCT03826628
An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) This trial consists of 2 parts: a double-blinded phase and an open-label extension phase. The open-label extension phase only will be described in this record. All participants will receive the same dose of GWP42003-P. However, investigators may subsequently decrease or increase the participant's dose until the optimal dose is found. GW Research Ltd Enrolling by invitation NCT02544750
Safety, Pharmacokinetics, and Exploratory Efficacy Assessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) Compared With Standard of Care Antiepileptic Therapy, in Patients Age 1 Month to <12 Months of Age With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures This study will be conducted to evaluate the safety, tolerability, and pharmacokinetics of GWP42003-P compared with standard of care (SOC) antiepileptic treatment (AET) assessed during the 17-week treatment period. GW Research Ltd Recruiting Medical Enquiries 1-833-424-6724 medinfo.USA@gwpharm.com NCT04485104

Top Treatments in Development

Trial Name Description Sponsor Status Investigator Contact NCT Number
Studies in Patients With Tuberous Sclerosis Complex 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. Translational Genomics Research Institute United States Department of Defense Recruiting Vinodh Narayanan Translational Genomics Research Institiute (TGen) Keri Ramsey 602-687-8193 kramsey@tgen.org NCT03276195
Study of Skin Tumors in Tuberous Sclerosis Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This study will investigate what causes skin tumors to develop in patients with this disease. National Heart, Lung, and Blood Institute (NHLBI) Uniformed Services University of the Health Sciences Recruiting Joel Moss, M.D. National Heart, Lung, and Blood Institute (NHLBI) Mary Haughey 301-496-3632 mhaughey@nhlbi.nih.gov NCT00001975
JASPER Early Intervention for Tuberous Sclerosis (JETS) The investigators are running an intervention study for young children with Tuberous Sclerosis Complex (TSC). The study will include free play-based behavioral intervention administered remotely that may improve social and communication skills in children with TSC. Eligible families will have a child in the age range of 12-36 months, with a diagnosis of TSC. Children with TSC below 12 months may be eligible for an early markers study prior to enrollment in the intervention trial. The intervention will focus on teaching caregivers skills to improve the social and communication outcomes of their children. The content of the intervention will be individually tailored to the child's developmental level. The intervention involves 4 on-site assessment visits, and 12 weekly intervention sessions, administered in-person and remotely. The intervention focuses on improving social-communication and play skills. University of California, Los Angeles Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Boston Children's Hospital Massachusetts General Hospital Recruiting Shafali Jeste University of California, Los Angeles Carly Hyde 3108258738 chyde@mednet.ucla.edu www.JETSstudy.org JETSstudy@gmail.com NCT03422367
Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants This trial will use a two stage, phase I/II clinical trial design. The first stage will employ an open-label clinical trial design to verify dosing for TAVT-18 (sirolimus) powder for oral solution in TSC infants (N=5). Results will then be carried forward to inform appropriate initial dosing, dosing frequency, and dosing adjustments for the second stage, a 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. Children's Hospital Medical Center, Cincinnati Recruiting Darcy Krueger, MD, PhD Children's Hospital Medical Center, Cincinnati Molly Griffith 513-636-9669 molly.griffith@cchmc.org NCT04595513
Study of the Disease Process of Lymphangioleiomyomatosis Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor. This study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy. Researchers intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals. National Heart, Lung, and Blood Institute (NHLBI) Recruiting Joel Moss, M.D. National Heart, Lung, and Blood Institute (NHLBI) Joel Moss, M.D. (301) 496-1597 mossj@nhlbi.nih.gov NCT00001465
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) 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. Boston Children's Hospital National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) Tuberous Sclerosis Alliance National Center for Advancing Translational Science (NCATS) Office of Rare Diseases (ORD) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Recruiting Darcy Krueger, MD, PhD Children's Hospital Medical Center, Cincinnati Rajna Filip-Dhima, MS 617-919-7068 Rajna.Filip-Dhima@childrens.harvard.edu NCT02461459
Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex The objective of this study is to evaluate the safety and efficacy of sirolimus (0.2% and 0.4% formulations) and its vehicle when applied topically once daily for 12 weeks for the treatment of cutaneous angiofibromas in pediatric subjects with tuberous sclerosis complex (TSC). Aucta Pharmaceuticals, Inc Recruiting Shoufeng Li, Ph.D Aucta Pharmaceuticals, Inc Rosa West 732-652-9225 rosa.west@auctapharma.com Wilson Chang 732-640-6030 wilson.chang@auctapharma.com NCT03363763
Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex The study aims to compare the safety and efficacy of two different strengths of Rapamycin cream, topical and placebo over 26 weeks in the treatment of facial angiofibroma (FA) associated with Tuberous Sclerosis Complex (TSC). Dermatology Specialties Limited Partnership Recruiting Ioana Stanescu Dermatology Specialties Limited Partnership Jennifer Zhang 649 488 0232 ext 710 jenniferz@aftpharm.com NCT03826628
An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) This trial consists of 2 parts: a double-blinded phase and an open-label extension phase. The open-label extension phase only will be described in this record. All participants will receive the same dose of GWP42003-P. However, investigators may subsequently decrease or increase the participant's dose until the optimal dose is found. GW Research Ltd Enrolling by invitation NCT02544750
Safety, Pharmacokinetics, and Exploratory Efficacy Assessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) Compared With Standard of Care Antiepileptic Therapy, in Patients Age 1 Month to <12 Months of Age With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures This study will be conducted to evaluate the safety, tolerability, and pharmacokinetics of GWP42003-P compared with standard of care (SOC) antiepileptic treatment (AET) assessed during the 17-week treatment period. GW Research Ltd Recruiting Medical Enquiries 1-833-424-6724 medinfo.USA@gwpharm.com NCT04485104