Clinical trials: Genetic Mutation
Activating ALK Gene Mutation Negative, Activating EGFR Gene Mutation Negative
Genetics and Shared Decision Making in Improving Care for Patients With Stage IVA-C Non-small Cell Lung Cancer
This trial studies the use of genetics and shared decision making in improving care for patients with stage IVA-C non-small cell lung cancer.
- Conditions
- Activating ALK Gene Mutation Negative, Activating EGFR Gene Mutation Negative, Activating ROS1 Gene Mutation Negative, Health Care Provider
- Trial name
- NCT03944265
- Testing
- Counseling, Questionnaire Administration, Medical Chart Review
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Thomas Jefferson University
Fabry Disease
Androgenetic Alopecia in Fabry Disease
The purpose of this study is to assess whether patients with the classic form of Fabry disease have significantly less androgenic alopecia (male pattern baldness).
- Trial name
- NCT01295008
- Where
- United States
- Volunteers
- 107 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
MutYH-associated Polyposis
MUTYH-associated Polyposis
This is single-center, prospective, non-randomized study
- Trial name
- MAP (NCT03847532)
- Testing
- Sanger sequencing method
- Where
- Russia
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- State Scientific Centre of Coloproctology, Russian Federation
Cancer of Unknown Primary, Bone Cancer Metastatic
Tislelizumab Combined With Chemotherapy in the Treatment of Bone Metastases of Unknown Primary
Through scientific and rigorous design, implementation, follow-up and statistics, the sponsor aims to explore the clinical efficacy and safety of Tislelizumab combined with chemotherapy (platinum + paclitaxel) in the treatment of…
- Conditions
- Cancer of Unknown Primary, Bone Cancer Metastatic, Tislelizumab, Gene Mutation-Related Cancer
- Trial name
- NCT05241132
- Testing
- Tislelizumab plus chemotherapy
- Where
- China
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Wei Xu
Acute Myeloid Leukemia, Myelodysplastic Syndromes
Screening Gene Mutations in Myeloid Cancers by Next Generation Sequencing to Improve Treatment Results
Genetic mutations have closely linked to the pathogenesis and prognostication of myeloid cancers. In addition, a number of molecularly targeted agents have been developed in recent years.
- Conditions
- Acute Myeloid Leukemia, Myelodysplastic Syndromes, Myeloproliferative Neoplasm, Aplastic Anemia
- Trial name
- NCT04060485
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Ovarian Cancer, BRCA Mutation
Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer
The overall goal of the Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer (PROMISE) study is to better understand how women may incorporate both polygenic risk score (PRS) and novel early detection…
- Trial name
- PROMISE (NCT06436248)
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
HIV-1 Infection
Dolutegravir-Lamivudine as Dual Therapy in naïve HIV-Infected Patients With Documented M184V Mutation:A Pilot Study
The purpose of this study is to evaluate the antiviral efficacy, safety and tolerability of dual therapy with 3TC and DTG as initial therapy among naïve HIV patients with a documented M184V mutation.
- Trial name
- PADDLE184V (NCT05295394)
- Testing
- Dolutegravir plus lamivudine
- Where
- 2 sites in Argentina
- Volunteers
- healthy volunteers welcome
- Sponsor
- Pedro Cahn
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
Renal Tumor Histology, Kidney Cancer
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled.
- Conditions
- Renal Tumor Histology, Kidney Cancer, Renal Cell Carcinoma, Familial Renal Cancer
- Trial name
- NCT05534854
- Testing
- Gene test
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- RenJi Hospital
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
Altitude Intolerance, High-Altitude Illness
Relationship Between Succinate Dehydrogenase Mutations and High-Altitude Illness
This study is is the first step of a full study named CHEMOGENE because it explores the genetic determinant of an alteration of the chemoreflex.
- Trial name
- NCT00202683
- Where
- France
- Volunteers
- 83 people, healthy volunteers welcome
- Sponsor
- Société Française de Cardiologie
Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L
Development of the Tool " iPSC " for the Functional Study of Mutations Responsible for Mental Retardation
According to the World Health Organization (WHO), mental retardation (MR) is defined by an intelligence quotient (IQ) < 70 and touches between 1 to 3 % of the general population.
- Conditions
- Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L, Healthy Volunteers
- Trial name
- Rementips (NCT02980302)
- Testing
- Cutaneous biopsy
- Where
- France
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- University Hospital, Grenoble
Healthy Volunteer
Occupancy of Adenosine A2A Receptors Using the PET Radiotracer [18F]MNI-444
The overall goal of this protocol is to evaluate the binding of caffeine to adenosine A2A receptors in the brain of participants at risk for developing PD.
- Trial name
- NCT05009199
- Testing
- [18F]MNI-444
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- Invicro
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)
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
Hemoglobin Mutations, Erythrocyte Variants
Collection of Blood From Persons With Hemoglobin and Erythrocyte Polymorphisms for Laboratory Malaria Research
This study will collect blood samples for use in laboratory studies of malaria. The World Health Organization reports that 40 percent of the world's population is at risk for malaria, mostly in the poorest countries.
- Trial name
- NCT00277849
- Where
- United States
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Urea Cycle Disorders
Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD) and Carriers of UCD Mutations to Evaluate Urea Cycle Function
This diagnostic study will be performed to investigate the performance of the urea cycle in healthy subjects, asymptomatic carriers of Urea Cycle Disorders (UCD) mutations and subjects with genetically proven urea cycle…
- Trial name
- NCT01549015
- Testing
- oral administration of Sodium [1,2-13C]-Acetate
- Where
- 4 sites in Germany
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Cytonet GmbH & Co. KG
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)
Atopic Dermatitis
The Role of Filaggrin and FADS Genes on the Concentrations of PUFA Towards Its Effect on Atopic Dermatitis in Infants
The incidence of atopic dermatitis has increased dramatically in this years. Atopic dermatitis occurs due to complex interactions between genetic and environmental factors.
- Trial name
- FLG-FADSgen (NCT02401178)
- Where
- Indonesia
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia
Cardiovascular Disease, Arterial Stiffness
Natural History Study of CADASIL
Background: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy) is a genetic disorder. It causes narrowing of the small blood vessels and can lead to strokes and dementia.
- Conditions
- Cardiovascular Disease, Arterial Stiffness, Germline Mutation in the NOTCH 3 Gene, Pathogenesis of CADASIL
- Trial name
- NCT05072483
- Testing
- MRI
- Where
- United States
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)