Clinical trials: Mutation
Parkinson Disease, PARK1
Molecular and Functional Imaging in SNCA, Parkin and PINK1
Parkinson's Disease (PD) is a progressive neurodegenerative disease characterized clinically by bradykinesia, resting tremor, rigidity, and postural instability.
- Conditions
- Parkinson Disease, PARK1, PARK2
- Trial name
- NCT04084509
- Volunteers
- healthy volunteers welcome
- Sponsor
- King's College London
Urothelial Carcinoma, Bladder Cancer
Diagnostic Evaluation of Urine DNA Methylation/Somatic Mutation Profiling for the Detection of Urothelial Carcinoma
Clinical trial to evaluate the performance characteristics(sensitivity and specificity) of AnchorDx's urine DNA methylation/somatic mutation profiling assay for detecting urothelial carcinoma compared to pathology in patients.
- Trial name
- NCT04314245
- Testing
- Active Comparator: Pathology, Active Comparator: Clinical Diagnosis, Genetic test: AnchorDx's urine DNA methylation/somatic mutation profiling assay
- Where
- China
- Volunteers
- 1,170 people, healthy volunteers welcome
- Sponsor
- AnchorDx Medical Co., Ltd.
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
Female Genital Mutilation Type I Status, Female Genital Mutilation Type II Status
Knowledge and Perspective of Healthcare Professionals About Female Genital Mutation
Each year over three million girls are at risk of being subjected to female genital mutilation (FGM) in several African countries.
- Conditions
- Female Genital Mutilation Type I Status, Female Genital Mutilation Type II Status, Female Genital Mutilation Type III Status
- Trial name
- FMG-HCPROF (NCT04936386)
- Testing
- Survey
- Where
- Italy
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- Piazza della Vittoria 14 Studio Medico - Ginecologia e Ostetricia
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)
Parkinson's Disease
Clinical, Molecular and by Neuroimaging of LRRK2 Mutations
Besides Parkinson's disease (PD), it exists rare parkinsonian syndromes clinically close to PD and that correspond to Mendelian entities.
- Trial name
- LRRK2 (NCT01085227)
- Where
- 2 sites in France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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
Clonal Hematopoiesis, Clonal Hematopoiesis of Indeterminate Potential
CHIP in Health and Disease
Clonal hematopoiesis (CH), including clonal hematopoiesis of indeterminate potential (CHIP), is an age-associated condition characterized by the expansion of hematopoietic stem and progenitor cell clones carrying acquired somatic…
- Conditions
- Clonal Hematopoiesis, Clonal Hematopoiesis of Indeterminate Potential, Clonal Cytopenia of Undetermined Significance (CCUS), Myelodysplastic Syndrome
- Trial name
- CHIP2 (NCT07780552)
- Where
- Austria
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- VASCage GmbH
Parkinson Disease
Characteristics of Parkinson s Disease Associated With the LRRK-2 Gene Mutation
This study will identify symptoms and other characteristics of Parkinson s disease that may be associated with changes in a gene called leucine-rich repeat kinase 2 (LRRK2).
- Trial name
- NCT00467090
- Where
- United States
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer
MyVHL: Patient Natural History Study
MyVHL is a multi-patient database which helps researchers identify patterns across VHL patients. MyVHL provides you -and researchers -with more complete information about VHL, like how your lifestyle, medications, and other…
- Conditions
- Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, SDHB Gene Mutation
- Trial name
- MyVHL (NCT03749980)
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Joshua Mann, MPH
Genetics
Parental Irradiation of Ukrainian Cleanup Workers and Evacuees and Germline Mutations in Their Offspring (Trio Study)
Data on transgenerational effects following nuclear accidents are important for understanding fully the consequences of parental exposure to ionizing radiation.
- Trial name
- NCT02566161
- Where
- Ukraine
- Volunteers
- 957 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations
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
Background: A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring.
- Conditions
- Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations, Tumor Predisposition Syndrome (TPDS), Mesothelioma
- Trial name
- NCT04431024
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Li-Fraumeni Syndrome, Neoplasms
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Background: Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain.
- Conditions
- Li-Fraumeni Syndrome, Neoplasms, Tp53 Mutations
- Trial name
- NCT01443468
- Where
- 2 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing BVD-523FB (Ulixertinib) as Potentially Targeted Treatment in Cancers With Genetic Changes (MATCH - Subprotocol Z1L)
This phase II MATCH treatment trial tests how well BVD-523FB (ulixertinib) works in treating patients with cancer that has certain genetic changes.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Refractory Lymphoma, Refractory Malignant Solid Neoplasm
- Trial name
- NCT06400225
- Testing
- Biopsy Procedure, Biospecimen Collection, Computed Tomography
- Where
- United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Atherosclerosis
Arterial Function and Atherosclerosis in Essential Thrombocythemia
The aim of the study is to examine (a) whether patients with JAK2 V617F positive ET in comparison to age-and sex-matched, apparently healthy control subjects show more advanced progression of arterial stiffness, pulse-wave…
- Trial name
- NCT03828422
- Testing
- imaging
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- University Medical Centre Ljubljana
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
Parkinson Disease, Gaucher Disease
Drug Discovery for Parkinson's With Mutations in the GBA Gene
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Parkinson's disease research and drug development by using cells from the body (such as skin or blood cells) to make stem…
- Conditions
- Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
- Trial name
- NCT05536388
- Testing
- Biological Sample Collection
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- New York Stem Cell Foundation Research Institute
BRCA1 Mutation, BRCA2 Mutation
BRCA Founder OutReach (BFOR) Study
The purpose of this study is to learn how to provide BRCA gene testing to a larger number of people as well as to make testing part of a person's regular medical care.
- Trial name
- BFOR (NCT03351803)
- Testing
- BFOR Digital Health solution/Web Portal
- Where
- 5 sites in United States
- Volunteers
- 5,412 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Prostate Cancer, Familial Prostate Cancer
Prostate Cancer Prevention Clinic for Men With Risk of Familial Prostate Cancer
Secondary prevention of prostate cancer (PCa) is not standardized and high-risk groups at the time of diagnosis are not well defined.
- Trial name
- ProFam-Risk (NCT05681416)
- Testing
- Panel sequencing, whole exome sequencing, whole genome sequencing
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Heinrich-Heine University, Duesseldorf