Clinical trials: Mutation Abnormality
Dementia, Frontotemporal
A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of VES001 in Healthy Participants
This is a Phase 1, randomized, placebo-controlled, double-blind study to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of single and multiple doses of VES001 in a two part followed by a…
- Trial name
- SORT-IN-1 (NCT06226064)
- Testing
- VES001
- Where
- Netherlands
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Vesper Biotechnologies ApS
Women With BRCA 1 or BRCA 2 Mutation, Non-tested Female Family Members
Lessons Learned From the Family Gene Toolkit
Mutations in the BRCA1/2 genes are the primary cause of hereditary breast/ovarian cancer syndrome. Genetic testing identifies mutation carriers and enables them to manage their cancer risk (i.e.
- Trial name
- FGT (NCT02154633)
- Testing
- Family Gene Toolkit, Delayed Family Gene Toolkit
- Where
- United States
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- University of Michigan
BRCA Mutation, Ovarian Cancer
Prediction of Germline BRCA 1/2 Genes From Healthy Ovaries
The project aims at enhancing performance metrics and prospectively validating a radiogenomics model based on ovarian US images for predicting germline breast cancer susceptibility gene 1 and/or 2 (BRCA) status in women with…
- Conditions
- BRCA Mutation, Ovarian Cancer, Ultrasound Therapy; Complications
- Trial name
- PROBE-II (NCT05769517)
- Testing
- Germinal BRCA
- Where
- Italy
- Volunteers
- 6,465 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Melanoma, BRAF V600 Mutation
Bioequivalence Binimetinib 3 x 15 mg and 45 mg Formulations
The current commercially available MEKTOVI® (binimetinib) 15 mg tablets are provided as immediate release film-coated tablets for oral administration.
- Conditions
- Melanoma, BRAF V600 Mutation, Unresectable Melanoma, Metastatic Melanoma
- Trial name
- NCT05810740
- Testing
- Binimetinib 15 MG, Binimetinib 45 MG
- Where
- France
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Pierre Fabre Medicament
Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst
The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics
The long-term goal of our PIC is to develop effective strategies that can be applied clinically at the point-of-care to prevent, intercept, or detect PDAC at an early stage, thereby reducing PDAC burden and saving lives.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst, Chronic Pancreatitis, Fatty Pancreas
- Trial name
- NCT05692596
- Testing
- Data collection
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
Inflammatory Disease, Genetic Disease
Molecular Diagnosis of Systemic Autoinflammatory Diseases
Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.
- Conditions
- Inflammatory Disease, Genetic Disease, Somatic Mutation, Molecular Sequence Variation
- Trial name
- SAIDiag (NCT05364294)
- Where
- France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Somatic Mutation
Linking Somatic Mutation Rate With Baseline Exposure in East Palestine
The goal of this study is to This research team is conducting this study to develop methods to measure the biological impact of exposure to the chemicals released following the February 3, 2023 train derailment on residents of…
- Trial name
- NCT06357845
- Testing
- Survey, Biological specimen collection, Communications about study updates and future research opportunities
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Case Comprehensive Cancer Center
Frontotemporal Lobar Degeneration
Natural History Characterization in Symptomatic and Asymptomatic Progranuline Gene Mutation Carriers
The purpose of this study is to investigate whether cognitive deficits, structural and functional changes can be detected before symptom onset in presymptomatic progranuline mutation carriers.
- Trial name
- Predict-PGRN (NCT04014673)
- Testing
- Behavioral : Characterization
- Where
- 2 sites in France
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Lung Adenocarcinoma
Osimertinib to Suppress the Progression of Remaining GGN for EGFR Mutation-positive Stage IB-IIIA Lung Adenocarcinoma
This is an open label, phase II study to assess the efficacy of osimertinib (80 mg, orally, once daily) to suppress the progression of remaining GGN(s) in other lobes following surgical resection for actionable EGFR…
- Trial name
- NCT05528458
- Testing
- Osimertinib 80Mg Tab
- Where
- South Korea
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
BRCA1 Mutation, POLD1 Gene Mutation
An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team.
- Conditions
- BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation, BRCA2 Mutation
- Trial name
- NCT05420064
- Testing
- Intervention Arm At-risk Relative/ARR Contacts, MyGene Portal, Standard of Care
- Where
- 8 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn How BAY2927088 is Taken up and Handled by the Body in Healthy Male Participants
Researchers are looking for a better way to treat men who have advanced non-small cell lung cancer (NSCLC). NSCLC is a group of lung cancers that have spread to nearby tissues or to other parts of the body.
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06221475
- Testing
- BAY2927088 coated tablet 10 mg, [14C]-BAY2927088 solution for infusion, [14C]-BAY2927088 oral solution
- Where
- Netherlands
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Bayer
Pentalogy of Cantrell, Mutations in Non-muscle Genes
Genes Mutation Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes.
- Trial name
- NCT00477932
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Healthcare of Atlanta
Myeloproliferative Neoplasm
Evaluation of the Pathobiology of CALR-mutated MPN Cells
The purpose of this study is to understand why there is a greater risk of thrombosis in patients who have the JAK2 mutation as compared to those with CALR mutations.
- Trial name
- NCT06480591
- Testing
- Blood Draw
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Parkinson's Disease With LRRK2 Mutation, Healthy Controls
Measure of Microglial Activation in the Brain of Parkinson Disease Patients With PET
There is accumulating evidence suggesting that inflammatory processes, through microglial activation, would play a key role in the neurodegenerative process of Parkinson's disease (PD).
- Conditions
- Parkinson's Disease With LRRK2 Mutation, Healthy Controls, Parkinson's Disease Without LRRK2 Mutation
- Trial name
- INFLAPARK (NCT02319382)
- Testing
- PET with the tracer 18F-DPA-714, PET with the tracer 11C-PE2I, MRI
- Where
- France
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Breast Cancer, Genetic Predisposition
Psyco Quality of Life and Procreation BRCA1/2
Women with breast and/or ovarian cancer or with a family history carried these pathologies can makeo genetic counseling in order to investigate whether they are carriers of the BRCA1/2 genetic mutation.
- Trial name
- QoL (NCT05857670)
- Testing
- Genetic predisposition to breast cancer
- Where
- 2 sites in Italy
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Regina Elena Cancer Institute
Zinc Fingers Proteins
Prevalence of a Non-Expressing 11B Mutation in Aka Peoples of the Central African Republic
The CCCH tandem zinc finger proteins are members of a small family of proteins that regulate the stability of certain types of mRNA containing so-called class II AU-rich elements in their 3'-untranslated regions.
- Trial name
- NCT00340769
- Where
- 3 sites in United States, Central African Republic
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Lamin A/C Gene Mutation, Dilated Cardiomyopathy, Familial
The Deep Phenotype of Lamin A/C Cardiomyopathy
This study seeks to discover clinically useful tests to improve the diagnosis of a rare and serious heart muscle disease caused by mutations in a gene called 'Lamin'.
- Trial name
- NCT03860454
- Where
- 6 sites in United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University College, London
Bladder Cancer, Colorectal Cancer
The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)
The goal of this study is to understand factors which may influence risk for colorectal and other cancers in families. These factors include genetic variability, in combination with diet and lifestyle.
- Conditions
- Bladder Cancer, Colorectal Cancer, Endometrial Cancer, Kidney Cancer
- Trial name
- NCT01447199
- Testing
- Health and Diet Questionnaire
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Colorectal Cancer, Adenomatous Polyps
Multitarget Stool FIT-DNA Study for Colorectal Cancer Early Screening in China
The primary objective is to determine the diagnostic sensitivity and specificity of the newly developed multitarget FIT-DNA Colorectal Cancer (CRC) screening test (ColoClear) for detecting advanced neoplasia (including colorectal…
- Conditions
- Colorectal Cancer, Adenomatous Polyps, Adenoma, Advanced Adenoma
- Trial name
- CLEAR-C (NCT04287335)
- Testing
- Multitarget stool FIT-DNA test - ColoClear, FIT, Colonoscopy
- Where
- 8 sites in China
- Volunteers
- 4,758 people, healthy volunteers welcome
- Sponsor
- Zhejiang University