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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Hamartoma Syndrome, Multiple Clear all
Active, not recruiting Phase 1Phase 2 Interventional Results available

Feasibility of [11C]Acetate-PET in LAM and TSC

NCT05467397
View directory record Official record
Conditions
Lymphangioleiomyomatosis, Tuberous Sclerosis Complex
Interventions
[11C]acetate
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older · Female only
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2026
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jan 20, 2026 · Synced Jul 21, 2026, 10:18 PM EDT
Completed Phase 1Phase 2 Interventional

A Phase I/II Study of BGT226 in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer

NCT00600275
View directory record Official record
Conditions
Solid Tumors, Breast Cancer, Cowden Syndrome
Interventions
BGT226
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
57 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2007
U.S. locations
4
States / cities
Boston, Massachusetts • Las Vegas, Nevada • San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Dec 16, 2020 · Synced Jul 21, 2026, 10:18 PM EDT
Completed Phase 3 Interventional Results available

Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy

NCT05323734
View directory record Official record
Conditions
Tuberous Sclerosis Complex
Interventions
Ganaxolone, Placebo
Drug
Lead sponsor
Marinus Pharmaceuticals
Industry
Eligibility
1 Year to 65 Years
Enrollment
129 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
23
States / cities
Little Rock, Arkansas • Los Angeles, California • Orange, California + 20 more
Source: ClinicalTrials.gov public record
Updated Jul 10, 2025 · Synced Jul 21, 2026, 10:18 PM EDT
Not yet recruiting Phase 2Phase 3 Interventional

Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations

NCT07218575
View directory record Official record
Conditions
Cowden's Disease, Cowden's Syndrome, Lhermitte-Duclos Disease, Cerebellum Dysplastic Gangliocytoma, Bannayan Zonana Syndrome, Myhre Riley Smith Syndrome, Riley Smith Syndrome, PTEN Hamartoma Tumor Syndrome, Bannayan Riley Ruvalcaba Syndrome
Interventions
Everolimus blinded oral capsules, Placebo
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
5 Years to 45 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
3
States / cities
Stanford, California • Boston, Massachusetts • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 3, 2026 · Synced Jul 21, 2026, 10:18 PM EDT
Recruiting No phase listed Observational

Study of Skin Tumors in Tuberous Sclerosis

NCT00001975
View directory record Official record
Conditions
Tuberous Sclerosis
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years to 90 Years
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 29, 2026 · Synced Jul 21, 2026, 10:18 PM EDT
Completed No phase listed Observational

Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM)

NCT00001869
View directory record Official record
Conditions
Leiomyomatosis
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Jul 21, 2026, 10:18 PM EDT
Completed No phase listed Observational

Early Biomarkers of Autism in Infants With Tuberous Sclerosis Complex (TSC)

NCT01780441
View directory record Official record
Conditions
Tuberous Sclerosis Complex
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
3 Months to 12 Months
Enrollment
166 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2020
U.S. locations
5
States / cities
Birmingham, Alabama • Los Angeles, California • Boston, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated Feb 3, 2021 · Synced Jul 21, 2026, 10:18 PM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

TANDem-2: Closing the Gap to Interventions for TAND

NCT06879665
View directory record Official record
Conditions
Adult Caregivers of Individuals With TSC, Tuberous Sclerosis Complex (TSC)
Interventions
Well-Beans for Caregivers Program
Behavioral
Lead sponsor
Vrije Universiteit Brussel
Other
Eligibility
18 Years and older
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2027
U.S. locations
1
States / cities
Silver Spring, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 21, 2025 · Synced Jul 21, 2026, 10:18 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex

NCT00411619
View directory record Official record
Conditions
Tuberous Sclerosis, Subependymal Giant Cell Astrocytoma
Interventions
Everolimus
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
3 Years and older
Enrollment
28 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2014
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 19, 2014 · Synced Jul 21, 2026, 10:18 PM EDT
Terminated Phase 3 Interventional Results available

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

NCT04485104
View directory record Official record
Conditions
Seizure in Participants With Tuberous Sclerosis Complex, Seizure in Participants With Dravet Syndrome, Seizure in Participants With Lennox-Gastaut Syndrome
Interventions
GWP42003-P
Drug
Lead sponsor
Jazz Pharmaceuticals
Industry
Eligibility
1 Month to 23 Months
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
6
States / cities
Little Rock, Arkansas • Los Angeles, California • Chicago, Illinois + 3 more
Source: ClinicalTrials.gov public record
Updated Oct 30, 2025 · Synced Jul 21, 2026, 10:18 PM EDT
Terminated Phase 4 Interventional Results available

Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients

NCT01266291
View directory record Official record
Conditions
Complex Partial Seizures
Interventions
vigabatrin
Drug
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 11, 2017 · Synced Jul 21, 2026, 10:18 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants

NCT04595513
View directory record Official record
Conditions
Tuberous Sclerosis Complex, Epilepsy
Interventions
TAVT-18 (sirolimus)
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
1 Day to 6 Months
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated May 15, 2024 · Synced Jul 21, 2026, 10:18 PM EDT
Recruiting No phase listed Observational

Long-term Safety of Nipple Sparing Mastectomy in Women With High Penetrance Breast Cancer Susceptibility Genes in Breast Cancer

NCT06888388
View directory record Official record
Conditions
Breast Cancer Surgery
Interventions
Nipple Sparing Mastectomy (NSM), Skin-Sparing Mastectomy (SSM), Total (Simple) Mastectomy
Procedure
Lead sponsor
Sir Mortimer B. Davis - Jewish General Hospital
Other
Eligibility
18 Years to 90 Years · Female only
Enrollment
4,700 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
4
States / cities
New Haven, Connecticut • Boston, Massachusetts • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Dec 7, 2025 · Synced Jul 21, 2026, 10:18 PM EDT
Withdrawn Phase 1Phase 2 Interventional

Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations

NCT06080165
View directory record Official record
Conditions
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome, PTEN Hamartoma Syndrome
Interventions
Sirolimus, Placebo
Drug
Lead sponsor
Stanford University
Other
Eligibility
5 Years to 45 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
3
States / cities
Stanford, California • Boston, Massachusetts • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 9, 2024 · Synced Jul 21, 2026, 10:18 PM EDT
Completed Phase 2 Interventional Results available

Topical Rapamycin to Erase Angiofibromas in TSC

NCT01526356
View directory record Official record
Conditions
Angiofibromas, Tuberous Sclerosis
Interventions
Placebo, Rapamycin
Drug
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
Not listed
Enrollment
179 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
9
States / cities
Birmingham, Alabama • Los Angeles, California • Oakland, California + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 25, 2020 · Synced Jul 21, 2026, 10:18 PM EDT
Completed Phase 3 Interventional Results available

Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)

NCT00790400
View directory record Official record
Conditions
Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM)
Interventions
Everolimus (RAD001), Everolimus Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
118 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
6
States / cities
Birmingham, Alabama • Phoenix, Arizona • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated Feb 16, 2017 · Synced Jul 21, 2026, 10:18 PM EDT
Completed No phase listed Observational

Phenotype and Etiology of Pallister-Hall Syndrome

NCT00001404
View directory record Official record
Conditions
Malformations, Multiple Abnormalies, Polydactyly
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
1,170 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1994 – 2016
U.S. locations
3
States / cities
Los Angeles, California • Bethesda, Maryland • Greenwood, South Carolina
Source: ClinicalTrials.gov public record
Updated Dec 15, 2019 · Synced Jul 21, 2026, 10:18 PM EDT
Recruiting No phase listed Observational

Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)

NCT06160310
View directory record Official record
Conditions
Tuberous Sclerosis Complex, Lymphangioleiomyomatosis
Interventions
Not listed
Lead sponsor
David M. Ritter
Other
Eligibility
Female only
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2029
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jan 22, 2026 · Synced Jul 21, 2026, 10:18 PM EDT
Available No phase listed Expanded access

Intermediate-Size Expanded Access Protocol (EAP) for LP352

NCT06149663
View directory record Official record
Conditions
Dravet Syndrome, Lennox Gastaut Syndrome, Developmental and Epileptic Encephalopathies
Interventions
LP352
Drug
Lead sponsor
Longboard Pharmaceuticals
Industry
Eligibility
2 Years to 65 Years
U.S. locations
19
States / cities
Downey, California • Los Angeles, California • San Francisco, California + 15 more
Source: ClinicalTrials.gov public record
Updated Jan 21, 2025 · Synced Jul 21, 2026, 10:18 PM EDT
Completed Phase 1Phase 2 Interventional Results available

RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome

NCT02991807
View directory record Official record
Conditions
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
Interventions
RAD001, Placebo
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
5 Years to 45 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
3
States / cities
Palo Alto, California • Boston, Massachusetts • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Feb 16, 2025 · Synced Jul 21, 2026, 10:18 PM EDT
Completed Phase 2Phase 3 Interventional Results available

Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex

NCT03826628
View directory record Official record
Conditions
Facial Angiofibroma, Tuberous Sclerosis
Interventions
rapamycin, placebo
Drug
Lead sponsor
Dermatology Specialties Limited Partnership
Industry
Eligibility
6 Years to 65 Years
Enrollment
107 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
6
States / cities
Phoenix, Arizona • La Jolla, California • St. Petersburg, Florida + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 7, 2023 · Synced Jul 21, 2026, 10:18 PM EDT
Completed Phase 1Phase 2 Interventional

Study to Investigate LP352 in Subjects With Developmental and Epileptic Encephalopathies

NCT05364021
View directory record Official record
Conditions
Developmental and Epileptic Encephalopathy, Dravet Syndrome, Lennox Gastaut Syndrome
Interventions
LP352, Placebo
Drug
Lead sponsor
Longboard Pharmaceuticals
Industry
Eligibility
12 Years to 65 Years
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
29
States / cities
Tucson, Arizona • Little Rock, Arkansas • Downey, California + 24 more
Source: ClinicalTrials.gov public record
Updated Nov 7, 2024 · Synced Jul 21, 2026, 10:18 PM EDT
Recruiting No phase listed Observational

TSC Biosample Repository and Natural History Database

NCT05676099
View directory record Official record
Conditions
Tuberous Sclerosis, Lymphangioleiomyomatosis
Interventions
Phlebotomy, Buccal (cheek) swab, Genetic Testing, Tissue donation after routine clinical procedure
Procedure · Genetic · Other
Lead sponsor
National Tuberous Sclerosis Association
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2050
U.S. locations
24
States / cities
Birmingham, Alabama • Loma Linda, California • Los Angeles, California + 19 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2026 · Synced Jul 21, 2026, 10:18 PM EDT
Terminated Phase 2 Interventional Results available

Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex

NCT03363763
View directory record Official record
Conditions
Angiofibroma of Face, Tuberous Sclerosis
Interventions
Sirolimus 0.2%, Sirolimus 0.4%, Placebo ointment
Drug
Lead sponsor
Aucta Pharmaceuticals, Inc
Industry
Eligibility
2 Years to 21 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
7
States / cities
Phoenix, Arizona • Los Angeles, California • Aurora, Colorado + 4 more
Source: ClinicalTrials.gov public record
Updated Nov 30, 2025 · Synced Jul 21, 2026, 10:18 PM EDT