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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Completed Phase 1 Interventional

Study to Test How Well Patients With Advanced Solid Tumors Respond to Treatment With the Elimusertib in Combination With Pembrolizumab, to Find the Optimal Dose for Patients, How the Drug is Tolerated and the Way the Body Absorbs, Distributes and Discharges the Drug

NCT04095273
View directory record Official record
Conditions
Advanced Solid Tumors
Interventions
Elimusertib (BAY1895344), Pembrolizumab (Keytruda®)
Drug
Lead sponsor
Bayer
Industry
Eligibility
18 Years and older
Enrollment
56 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
8
States / cities
Palo Alto, California • New Haven, Connecticut • Baltimore, Maryland + 5 more
Source: ClinicalTrials.gov public record
Updated Apr 1, 2024 · Synced Jul 22, 2026, 2:00 PM EDT
Active, not recruiting Phase 3 Interventional Results available

Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas

NCT04924608
View directory record Official record
Conditions
Neurofibromatosis 1, Plexiform Neurofibroma (PN)
Interventions
Selumetinib, Placebo
Drug · Other
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years and older
Enrollment
145 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2029
U.S. locations
4
States / cities
Gainesville, Florida • Rockville, Maryland • St Louis, Missouri + 1 more
Source: ClinicalTrials.gov public record
Updated Mar 22, 2026 · Synced Jul 22, 2026, 2:00 PM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

NCT01425944
View directory record Official record
Conditions
Sturge-Weber Syndrome
Interventions
Not listed
Lead sponsor
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Other
Eligibility
1 Month and older
Enrollment
600 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2027
U.S. locations
7
States / cities
Baltimore, Maryland • Detroit, Michigan • New York, New York + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 1, 2026 · Synced Jul 22, 2026, 2:00 PM EDT
Completed Phase 1 Interventional

Transformation of Plexiform Neurofibromas to Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1

NCT02211768
View directory record Official record
Conditions
Neurofibromatosis, MPNST
Interventions
MRI, FDG-PET/CT scans, [18F]-FLT-PET/CT scans
Procedure · Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
10 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Jul 22, 2026, 2:00 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

MyVHL: Patient Natural History Study

NCT03749980
View directory record Official record
Conditions
Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, SDHB Gene Mutation
Interventions
Not listed
Lead sponsor
Joshua Mann, MPH
Other
Eligibility
Not listed
Enrollment
10,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2028
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 25, 2024 · Synced Jul 22, 2026, 2:00 PM EDT
Completed Phase 2 Interventional Results available

Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas

NCT03231306
View directory record Official record
Conditions
Neurofibromatosis Type 1, Plexiform Neurofibroma
Interventions
Binimetinib
Drug
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
1 Year and older
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
22
States / cities
Birmingham, Alabama • Los Angeles, California • Oakland, California + 16 more
Source: ClinicalTrials.gov public record
Updated May 1, 2025 · Synced Jul 22, 2026, 2:00 PM EDT
Completed No phase listed Observational

International Ataxia Rating Scale in Younger Patients

NCT01942850
View directory record Official record
Conditions
Ataxia Telangiectasia
Interventions
Not listed
Lead sponsor
Quince Therapeutics S.p.A.
Industry
Eligibility
6 Years to 18 Years
Enrollment
63 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Dec 30, 2014 · Synced Jul 22, 2026, 2:00 PM EDT
Active, not recruiting Phase 3 Interventional

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

NCT02962414
View directory record Official record
Conditions
Tuberous Sclerosis Complex
Interventions
everolimus
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
2 Years to 65 Years
Enrollment
206 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2027
U.S. locations
14
States / cities
Phoenix, Arizona • Los Angeles, California • Oakland, California + 11 more
Source: ClinicalTrials.gov public record
Updated Apr 1, 2026 · Synced Jul 22, 2026, 2:00 PM EDT
Completed No phase listed Observational

Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I

NCT00684398
View directory record Official record
Conditions
Neurofibromatosis Type 1, Von Recklinghausen Disease, NF1
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
645 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 15, 2019 · Synced Jul 22, 2026, 2:00 PM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

Open Trial of Telehealth Group for Improving Peer Relationships (PEERS) in NF1

NCT04856514
View directory record Official record
Conditions
Neurofibromatosis 1, Social Skills
Interventions
PEERS
Behavioral
Lead sponsor
University of Wisconsin, Milwaukee
Other
Eligibility
12 Years to 17 Years
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
1
States / cities
Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 26, 2021 · Synced Jul 22, 2026, 2:00 PM EDT
Not listed Phase 2 Interventional

MBM-01 (Tempol) for the Treatment of Ataxia Telangiectasia

NCT04887311
View directory record Official record
Conditions
Ataxia Telangiectasia Louis-Bar, Ataxia Telangiectasia in Children, Ataxia Telangiectasia
Interventions
MBM-01
Drug
Lead sponsor
Matrix Biomed, Inc.
Industry
Eligibility
4 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated May 16, 2021 · Synced Jul 22, 2026, 2:00 PM EDT
Completed No phase listed Observational

Studies in Patients With Tuberous Sclerosis Complex

NCT03276195
View directory record Official record
Conditions
Tuberous Sclerosis Complex
Interventions
Not listed
Lead sponsor
Translational Genomics Research Institute
Other
Eligibility
Not listed
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2023
U.S. locations
1
States / cities
Phoenix, Arizona
Source: ClinicalTrials.gov public record
Updated Nov 28, 2023 · Synced Jul 22, 2026, 2:00 PM EDT
Completed Phase 1 Interventional

Use of the Atkins Diet for Children With Sturge Weber Syndrome

NCT00639730
View directory record Official record
Conditions
Epilepsy, Sturge Weber Syndrome
Interventions
modified Atkins diet
Dietary Supplement
Lead sponsor
Johns Hopkins University
Other
Eligibility
2 Years to 18 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2010
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated May 26, 2010 · Synced Jul 22, 2026, 2:00 PM EDT
Not listed Not applicable Interventional

JASPER Early Intervention for Tuberous Sclerosis

NCT03422367
View directory record Official record
Conditions
Tuberous Sclerosis
Interventions
JASPER
Behavioral
Lead sponsor
University of California, Los Angeles
Other
Eligibility
6 Months to 40 Months
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
2
States / cities
Los Angeles, California • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 5, 2020 · Synced Jul 22, 2026, 2:00 PM EDT
Active, not recruiting Phase 4 Interventional

Pediatric Long-Term Follow-up and Rollover Study

NCT03975829
View directory record Official record
Conditions
Diffuse Astrocytoma, Anaplastic Astrocytoma, Astrocytoma, Oligodendroglioma, Childhood, Anaplastic Oligodendroglioma, Glioblastoma, Pilocytic Astrocytoma, Giant Cell Astrocytoma, Pleomorphic Xanthoastrocytoma, Anaplastic Pleomorphic Xanthoastrocytoma, Angiocentric Glioma, Chordoid Glioma of Third Ventricle, Gangliocytoma, Ganglioglioma, Anaplastic Ganglioglioma, Dysplastic Gangliocytoma of Cerebrellum, Desmoplastic Infantile Astrocytoma and Ganglioglioma, Papillary Glioneuronal Tumor, Rosette-forming Glioneuronal Tumor, Central Neurocytoma, Extraventricular Neurocytoma, Cerebellar Liponeurocytoma, Neurofibromatosis Type 1
Interventions
dabrafenib, trametinib
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
1 Year to 99 Years
Enrollment
163 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
12
States / cities
Phoenix, Arizona • Washington D.C., District of Columbia • Miami, Florida + 8 more
Source: ClinicalTrials.gov public record
Updated Jul 6, 2026 · Synced Jul 22, 2026, 2:00 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

RASopathy Biorepository

NCT04395495
View directory record Official record
Conditions
RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines, Noonan Neurofibromatosis Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome, Legius Syndrome, Smith-Kingsmore Syndrome, MTOR Gene Mutation, GATOR-1 Gene Mutation, SYNGAP1-Related Intellectual Disability, DLG4, MAPK1 Gene Mutation
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2065
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Dec 17, 2025 · Synced Jul 22, 2026, 2:00 PM EDT
Active, not recruiting Not applicable Interventional

Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)

NCT06139172
View directory record Official record
Conditions
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple, Fragile X Syndrome, Angelman Syndrome, Rett Syndrome, Chromosome 15Q, Partial Deletion, Creatine Deficiency, X-linked
Interventions
Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual
Behavioral · Other
Lead sponsor
Rush University Medical Center
Other
Eligibility
2 Years to 12 Years
Enrollment
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jul 12, 2026 · Synced Jul 22, 2026, 2:00 PM EDT
Completed Phase 2 Interventional Results available

Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2

NCT01419639
View directory record Official record
Conditions
Neurofibromatosis Type II
Interventions
Everolimus (RAD001) , Afinitor®
Drug
Lead sponsor
NYU Langone Health
Other
Eligibility
3 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 17, 2017 · Synced Jul 22, 2026, 2:00 PM EDT
Completed Phase 2 Interventional Results available

NFX-179 Topical Gel Treatment in Adults With Neurofibromatosis 1 (NF1) and Cutaneous Neurofibromas (cNF)

NCT04435665
View directory record Official record
Conditions
Neurofibromatosis 1, Cutaneous Neurofibroma
Interventions
NFX-179 Gel, Vehicle Gel
Drug
Lead sponsor
NFlection Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
6
States / cities
Fremont, California • New Brighton, Minnesota • Rochester, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Aug 8, 2022 · Synced Jul 22, 2026, 2:00 PM EDT
Terminated Not applicable Interventional

Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia

NCT02246491
View directory record Official record
Conditions
Ataxia-Telangiectasia (A-T)
Interventions
A-T iPS cell line, Carrier patients iPS cell line
Other
Lead sponsor
Johns Hopkins University
Other
Eligibility
3 Years to 100 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 18, 2019 · Synced Jul 22, 2026, 2:00 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Systematically Assessing Changes in Plexiform Neurofibroma Related Disfigurement From Photographs of Subjects With Neurofibromatosis Type 1 on a Phase 2 Clinical Trial

NCT04879160
View directory record Official record
Conditions
Neurofibromatosis 1
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
7 Years and older
Enrollment
52 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2022
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 21, 2024 · Synced Jul 22, 2026, 2:00 PM EDT
Completed Phase 1 Interventional

Pomalidomide in Treating Younger Patients With Recurrent, Progressive, or Refractory Central Nervous System Tumors

NCT02415153
View directory record Official record
Conditions
Neurofibromatosis Type 1, Recurrent Childhood Brain Stem Glioma, Recurrent Childhood Visual Pathway Glioma, Recurrent Primary Central Nervous System Neoplasm, Refractory Primary Central Nervous System Neoplasm
Interventions
Laboratory Biomarker Analysis, Pharmacological Study, Pomalidomide
Other · Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
3 Years to 20 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2020
U.S. locations
12
States / cities
Los Angeles, California • Palo Alto, California • Washington D.C., District of Columbia + 9 more
Source: ClinicalTrials.gov public record
Updated Apr 24, 2022 · Synced Jul 22, 2026, 2:00 PM EDT
Completed Phase 2 Interventional Results available

Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC)

NCT01289912
View directory record Official record
Conditions
Tuberous Sclerosis Complex
Interventions
RAD001, Placebo
Drug
Lead sponsor
Mustafa Sahin
Other
Eligibility
6 Years to 21 Years
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
2
States / cities
Boston, Massachusetts • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jan 24, 2018 · Synced Jul 22, 2026, 2:00 PM EDT
Completed Phase 2Phase 3 Interventional Results available

Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome

NCT03047980
View directory record Official record
Conditions
Sturge-Weber Syndrome
Interventions
Sirolimus
Drug
Lead sponsor
Anne Comi, MD
Other
Eligibility
3 Years to 31 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
2
States / cities
Baltimore, Maryland • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 31, 2021 · Synced Jul 22, 2026, 2:00 PM EDT