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ClinicalTrials.gov public records Last synced Oct 30, 2026, 7:50 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 169–192 of 941 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Mutations Clear all
Terminated No phase listed Observational Accepts healthy volunteers

Characteristics of Parkinson s Disease Associated With the LRRK-2 Gene Mutation

NCT00467090
View directory record Official record
Conditions
Parkinson Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
18 Years and older
Enrollment
34 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 30, 2026, 7:50 AM EDT
Completed Phase 4 Interventional Results available

PTC Study to Evaluate Ataluren in Combination With Ivacaftor

NCT03256968
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Ataluren
Drug
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
6 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2018
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Mar 26, 2020 · Synced Oct 30, 2026, 7:50 AM 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 26, 2024 · Synced Oct 30, 2026, 7:50 AM EDT
Terminated Phase 2 Interventional Results available

BGJ398 for Patients With Tumors With FGFR Genetic Alterations

NCT02160041
View directory record Official record
Conditions
Solid Tumor, Hematologic Malignancies
Interventions
BGJ398
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
84 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
56
States / cities
Birmingham, Alabama • Oceanside, California • San Francisco, California + 49 more
Source: ClinicalTrials.gov public record
Updated Jun 18, 2019 · Synced Oct 30, 2026, 7:50 AM EDT
Recruiting No phase listed Observational

Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

NCT01630460
View directory record Official record
Conditions
Craniometaphyseal Dysplasia
Interventions
Not listed
Lead sponsor
UConn Health
Other
Eligibility
Not listed
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2030
U.S. locations
1
States / cities
Farmington, Connecticut
Source: ClinicalTrials.gov public record
Updated Apr 17, 2026 · Synced Oct 30, 2026, 7:50 AM EDT
Completed Phase 2 Interventional Results available

Derazantinib in Subjects With FGFR2 Gene Fusion-, Mutation- or Amplification- Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma

NCT03230318
View directory record Official record
Conditions
Intrahepatic Cholangiocarcinoma, Combined Hepatocellular and Cholangiocarcinoma
Interventions
derazantinib
Drug
Lead sponsor
Basilea Pharmaceutica
Industry
Eligibility
18 Years and older
Enrollment
148 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
11
States / cities
Phoenix, Arizona • Jacksonville, Florida • Tampa, Florida + 8 more
Source: ClinicalTrials.gov public record
Updated Dec 19, 2023 · Synced Oct 30, 2026, 7:50 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome

NCT04431024
View directory record Official record
Conditions
Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations, Tumor Predisposition Syndrome (TPDS), Mesothelioma
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
30 Years to 120 Years
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2038
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 29, 2026 · Synced Oct 30, 2026, 7:50 AM EDT
Active, not recruiting Phase 2 Interventional Results available

Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)

NCT03698994
View directory record Official record
Conditions
Advanced Malignant Solid Neoplasm, Recurrent Ependymal Tumor, Recurrent Ewing Sarcoma, Recurrent Glioma, Recurrent Hepatoblastoma, Recurrent Histiocytic and Dendritic Cell Neoplasm, Recurrent Langerhans Cell Histiocytosis, Recurrent Malignant Germ Cell Tumor, Recurrent Malignant Solid Neoplasm, Recurrent Medulloblastoma, Recurrent Neuroblastoma, Recurrent Non-Hodgkin Lymphoma, Recurrent Osteosarcoma, Recurrent Peripheral Primitive Neuroectodermal Tumor, Recurrent Primary Malignant Central Nervous System Neoplasm, Recurrent Rhabdoid Tumor, Recurrent Rhabdomyosarcoma, Recurrent Soft Tissue Sarcoma, Refractory Ependymoma, Refractory Ewing Sarcoma, Refractory Glioma, Refractory Hepatoblastoma, Refractory Histiocytic and Dendritic Cell Neoplasm, Refractory Langerhans Cell Histiocytosis, Refractory Malignant Germ Cell Tumor, Refractory Malignant Solid Neoplasm, Refractory Medulloblastoma, Refractory Neuroblastoma, Refractory Non-Hodgkin Lymphoma, Refractory Osteosarcoma, Refractory Peripheral Primitive Neuroectodermal Tumor, Refractory Primary Malignant Central Nervous System Neoplasm, Refractory Rhabdoid Tumor, Refractory Rhabdomyosarcoma, Refractory Soft Tissue Sarcoma, Wilms Tumor
Interventions
Pharmacokinetic Study, Ulixertinib
Other · Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
12 Months to 21 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
105
States / cities
Birmingham, Alabama • Anchorage, Alaska • Mesa, Arizona + 82 more
Source: ClinicalTrials.gov public record
Updated Sep 21, 2026 · Synced Oct 30, 2026, 7:50 AM EDT
Completed Phase 3 Interventional Results available

Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year

NCT03293524
View directory record Official record
Conditions
Leber Hereditary Optic Neuropathy
Interventions
GS010, Placebo
Genetic · Drug
Lead sponsor
GenSight Biologics
Industry
Eligibility
15 Years and older
Enrollment
98 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
7
States / cities
Pasadena, California • Aurora, Colorado • Atlanta, Georgia + 4 more
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Oct 30, 2026, 7:50 AM EDT
Completed No phase listed Observational

Myotubular Myopathy Genetic Testing Study

NCT01817946
View directory record Official record
Conditions
Myotubular Myopathy
Interventions
Genetic Testing
Other
Lead sponsor
Cure CMD
Other
Eligibility
30 Days and older
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Torrance, California
Source: ClinicalTrials.gov public record
Updated Mar 7, 2018 · Synced Oct 30, 2026, 7:50 AM EDT
Completed Phase 1 Interventional

Study of Erlotinib in Combination With Bortezomib

NCT00895687
View directory record Official record
Conditions
Advanced Cancer
Interventions
Erlotinib Hydrochloride, Bortezomib
Drug
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
Not listed
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2009
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 13, 2015 · Synced Oct 30, 2026, 7:50 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical and Genetic Studies of Li-Fraumeni Syndrome

NCT01443468
View directory record Official record
Conditions
Li-Fraumeni Syndrome, Neoplasms, Tp53 Mutations
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2012
U.S. locations
2
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 29, 2026 · Synced Oct 30, 2026, 7:50 AM EDT
Active, not recruiting Phase 2 Interventional Accepts healthy volunteers

Testing BVD-523FB (Ulixertinib) as Potentially Targeted Treatment in Cancers With Genetic Changes (MATCH - Subprotocol Z1L)

NCT06400225
View directory record Official record
Conditions
Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Refractory Lymphoma, Refractory Malignant Solid Neoplasm, Refractory Multiple Myeloma
Interventions
Biopsy Procedure, Biospecimen Collection, Computed Tomography, Echocardiography Test, Magnetic Resonance Imaging, Radionuclide Imaging, Ulixertinib
Procedure · Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 15, 2026 · Synced Oct 30, 2026, 7:50 AM EDT
Not listed No phase listed Observational

Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

NCT01616589
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Not listed
Lead sponsor
Esoterix Genetic Laboratories, LLC
Industry
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012
U.S. locations
1
States / cities
Westborough, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 12, 2012 · Synced Oct 30, 2026, 7:50 AM EDT
Recruiting Phase 1 Interventional

SW-682 in Advanced Solid Tumors

NCT06251310
View directory record Official record
Conditions
Advanced Solid Tumor, Mesothelioma, Malignant
Interventions
SW-682, Combination Therapy
Drug
Lead sponsor
SpringWorks Therapeutics, Inc., a healthcare company of Merck KGaA, Darmstadt, Germany
Industry
Eligibility
18 Years and older
Enrollment
186 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
8
States / cities
Scottsdale, Arizona • Los Angeles, California • Sacramento, California + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 2, 2026 · Synced Oct 30, 2026, 7:50 AM EDT
Recruiting Phase 1 Interventional

Study of NMS-03597812 in Adult Patients With Relapsed/Refractory Acute Myeloid Leukemia

NCT06549790
View directory record Official record
Conditions
Relapsed/Refractory Acute Myeloid Leukemia
Interventions
NMS-03597812
Drug
Lead sponsor
Nerviano Medical Sciences
Industry
Eligibility
18 Years and older
Enrollment
124 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2030
U.S. locations
7
States / cities
Duarte, California • Aurora, Colorado • Newark, Delaware + 4 more
Source: ClinicalTrials.gov public record
Updated Oct 31, 2025 · Synced Oct 30, 2026, 7:50 AM EDT
Completed No phase listed Observational Results available

Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers

NCT03234478
View directory record Official record
Conditions
Parkinson, Parkinson Disease, Genetic Predisposition, GBA Gene Mutation, Cognitive Decline
Interventions
Not listed
Lead sponsor
Rutgers, The State University of New Jersey
Other
Eligibility
30 Years to 75 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
New Brunswick, New Jersey
Source: ClinicalTrials.gov public record
Updated Jul 29, 2026 · Synced Oct 30, 2026, 7:50 AM EDT
Completed Phase 1 Interventional

AZD2281 Plus Carboplatin to Treat Breast and Ovarian Cancer

NCT01445418
View directory record Official record
Conditions
Breast Cancer, Ovarian Cancer
Interventions
AZ2281 + Carboplatin
Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
103 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 22, 2019 · Synced Oct 30, 2026, 7:50 AM EDT
Completed Phase 1 Interventional Results available

Hypertrophic Regression With N-Acetylcysteine in HCM

NCT01537926
View directory record Official record
Conditions
Hypertrophic Cardiomyopathy
Interventions
N-acetylcysteine, Placebo
Drug
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
18 Years and older
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Nov 2, 2021 · Synced Oct 30, 2026, 7:50 AM EDT
Completed No phase listed Observational

INST 1204: PIK3CA Mutations as Biomarkers for Metastasis in Colon Cancer

NCT03951389
View directory record Official record
Conditions
Colon Cancer
Interventions
Non-interventional
Other
Lead sponsor
New Mexico Cancer Research Alliance
Other
Eligibility
18 Years and older
Enrollment
750 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
1
States / cities
Albuquerque, New Mexico
Source: ClinicalTrials.gov public record
Updated May 18, 2021 · Synced Oct 30, 2026, 7:50 AM EDT
Recruiting Phase 2 Interventional

APL-101 Study of Subjects With NSCLC With c-Met EXON 14 Skip Mutations and c-Met Dysregulation Advanced Solid Tumors

NCT03175224
View directory record Official record
Conditions
Solid Tumors, Advanced Cancer, Renal Cancer, Gastric Cancer, Gastroesophageal Junction Adenocarcinoma, NSCLC, Lung Cancer, Brain Tumor, Glioblastoma Multiforme, EGFR Gene Mutation, MET Amplification, HGF, Thyroid Cancer, Pancreatic Cancer, Colon Cancer, MET Alteration, MET Fusion, Exon 14 Skipping
Interventions
APL-101 Oral Capsules
Drug
Lead sponsor
Apollomics Inc.
Industry
Eligibility
18 Years and older
Enrollment
497 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
6
States / cities
Los Angeles, California • Tampa, Florida • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 27, 2025 · Synced Oct 30, 2026, 7:50 AM EDT
Recruiting Phase 2 Interventional

Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of SPL84 in Patients With Cystic Fibrosis

NCT06429176
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
SPL84, Placebo
Drug · Other
Lead sponsor
SpliSense Ltd.
Industry
Eligibility
18 Years and older
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
3
States / cities
Los Angeles, California • Denver, Colorado • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 14, 2026 · Synced Oct 30, 2026, 7:50 AM EDT
Active, not recruiting Phase 3 Interventional

Study to Compare Furmonertinib to Platinum-Based Chemotherapy for Patients With Locally Advanced or Metastatic Non-Small Cell Lung Cancer (NSCLC) With Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion Mutations (FURVENT)

NCT05607550
View directory record Official record
Conditions
Metastatic Non-Small Cell Lung Cancer, Advanced Non-Small Cell Lung Cancer, EGFR Exon 20 Mutations
Interventions
furmonertinib 240 mg oral, daily, furmonertinib 160 mg oral, daily, platinum-based chemotherapy
Drug
Lead sponsor
ArriVent BioPharma, Inc.
Industry
Eligibility
18 Years and older
Enrollment
398 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2028
U.S. locations
69
States / cities
Daphne, Alabama • Yuma, Arizona • Fayetteville, Arkansas + 64 more
Source: ClinicalTrials.gov public record
Updated Jun 22, 2025 · Synced Oct 30, 2026, 7:50 AM EDT
Completed No phase listed Observational

TSH Receptor Mutations Among a Consanguineous Community

NCT00747760
View directory record Official record
Conditions
Hypothyroidism
Interventions
Not listed
Lead sponsor
HaEmek Medical Center, Israel
Other
Eligibility
Not listed
Enrollment
209 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2006
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Sep 11, 2008 · Synced Oct 30, 2026, 7:50 AM EDT