Clinical trials: Mutations
Breast Cancer, BRCA1 Mutation
IMpact of Breast cAncer Gene Status on Survival in Adjuvant Breast Cancer (IMBASSA)
Relationship between the presence of the BRCA mutation (BReast Cancer) and outcomes is unclear in high-risk early breast cancers (BC).
- Conditions
- Breast Cancer, BRCA1 Mutation, BRCA2 Mutation
- Trial name
- IMBASSA (NCT04012229)
- Testing
- BRCA mutation
- Where
- France
- Volunteers
- 2,295 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Besancon
Alzheimers Disease, Dementia
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation. Master Protocol DIAN-TU-001
The purpose of this study is to assess the safety, tolerability, biomarker, cognitive and clinical efficacy of investigational products in participants with an Alzheimer's disease-causing mutation by determining if treatment with…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU (NCT01760005)
- Testing
- Gantenerumab, Solanezumab, E2814
- Where
- 38 sites in United States, Argentina and 13 more
- Volunteers
- 490 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Nasal Polyp, Smoking
The Factors Associated With the Formation of Nasal polyp-a Case Control and Descriptive Study
Nasal polyp is a significant health problem with a prevalence of 4%. It is increased in patients with asthma (7-15%), Cystic fibrosis (39-56%) or aspirin intolerance (36-96%).The quality of life (QOL) is worse than in patients…
- Conditions
- Nasal Polyp, Smoking, Rhinosinusitis, Allergic Rhinitis
- Trial name
- ACAAGSONP (NCT01278719)
- Where
- India
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Karnataka Institute of Medical Sciences
Generalized Aggressive Periodontitis, Chronic Periodontitis
Evaluation of Possible Genes in Periodontal Diseases by Genetic Methods
Generalized aggressive Periodontitis (GAgP) and chronic periodontitis (CP) are inflammatory diseases. Little is known about molecular changes and signaling cascade of host response.
- Trial name
- NCT04026828
- Testing
- Periodontitis Group
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Kocaeli University
Neurological Diseases
Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases
In Israel, because of special qualification in neurogenetics, during a 30 year career ,we have found, characterized and treated at least 13 novel neurological diseases.
- Trial name
- NGS (NCT02340871)
- Testing
- Genetic testing
- Where
- Israel
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Rabin Medical Center
Acute Lymphoblastic Leukemia ALL, Chronic Lymphocytic Leukemia (CLL)
Role of SF3B1 Mutation in Assessment of Acute and Chronic Lymphatic Leukemia
aim of the work 1. To evaluate the presence of SF3B1-K700E mutation in acute lymphoblastic leukemia and chronic lymphocytic leukemia. 2.
- Trial name
- NCT07113132
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- Safaa Ali
Myocardial Deformation, Coronary Artery Anomaly
Correlation Between Myocardial Deformation and Coronary Artery Tortuosity in Patients With Hypertrophic Cardiomyopathy
Correlation between Myocardial Deformation and Coronary Tortuosity and Analysis of Genetic Factors Among Hypertrophic Cardiomyopathy Patients
- Conditions
- Myocardial Deformation, Coronary Artery Anomaly, Hypertrophic Cardiomyopathy, Genetic Mutation
- Trial name
- NCT04830787
- Testing
- no intervention
- Where
- China
- Volunteers
- 302 people, healthy volunteers welcome
- Sponsor
- Henan Provincial People's Hospital
Increased Oocyte Death, in Vitro Maturation
GREM1, HAS2 and PTGS2 Gene Expression Following the in Vitro Maturation (IVM)
Poor ovarian reserve (POR) is an adverse prognostic factor for In-Vitro Fertilization (IVF) success. Numerous established data showed low live birth rates per IVF cycle; 6 to 10%, including the usage of In-Vitro Maturation (IVM).
- Conditions
- Increased Oocyte Death, in Vitro Maturation, GREM1 Gene Mutation, Cumulus Cell
- Trial name
- NCT06315777
- Testing
- cumulus cell oocytes complex (COC) among women with poor ovarian reserve
- Where
- Malaysia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- National University of Malaysia
Cancer Genetics
Adaptation to Living With a BRCA1/2 Mutation
Background: Women who have a BRCA1/2 gene mutation have a very high risk of developing breast or ovarian cancer. They are also at increased risk of other developing other cancers.
- Trial name
- NCT01866865
- Where
- United States
- Volunteers
- 142 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Segmental Dysplastic Nevi
Genetic Identification (ID) of Segmental Dysplastic Nevi
The investigators' goal is to identify the mutation in the gene that is responsible for the development of segmental dysplastic nevi. To identify the gene the investigators may use a candidate gene approach (i.e.
- Trial name
- NCT00955578
- Testing
- Punch Biopsy
- Where
- Canada
- Volunteers
- healthy volunteers welcome
- Sponsor
- Nova Scotia Health Authority
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)
Cardiac Allograft Vasculopathy
A P2X7R Single Nucleotide Mutation Promotes Chronic Allograft Vasculopathy
Heart transplantation (HT) is a lifesaving procedure for patients with end-stage heart failure and provides a better survival and quality of life if compared to medical treatment.
- Trial name
- NCT02082821
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
BRCA1 Mutation, BRCA2 Mutation
FaCT Trial (Facilitated Cascade Testing Trial)
The purpose of this study is to assess an intervention that incorporates engagement strategies with a medical team navigator, an educational video and accessible genetic testing services to maximize the genetic testing and…
- Trial name
- NCT04613440
- Testing
- Family Letter (Standard of Care), Educational Video, Mailed Saliva Kit for Genetic Testing
- Where
- 3 sites in United States
- Volunteers
- 524 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Inherited Retinal Degeneration Associated With RPGR Mutations, Inherited Retinal Degeneration Associated With Biallelic RPE65 Mutations
Monitoring and Early Detection of Treatable Inherited RETinal Disease in Children and Adolescents
The goals of this observational study are to develop and train artificial intelligence (AI) algorithms using multimodal imaging to identify patients with inherited retinal degeneration (IRD) caused by Retinal Pigment Epithelium…
- Trial name
- MEDIRET (NCT07901907)
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 4,887 people, healthy volunteers welcome
- Sponsor
- University College, London
Gastric, Colorectal Adenocarcinoma
Chemotherapy Sequential Tislelizumab After Radical Resection in Patients With dMMR/MSI-H or POLE/POLD1 Mutations
Objective of this study to evaluate 1-year disease-free survival in patients with dMMR/MSI-H or POLE/POLD1 gene mutations with gastric or esophagus-gastric junctional adenocarcinoma or colorectal adenocarcinoma after…
- Trial name
- NCT06118658
- Testing
- tislelizumab
- Where
- China
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- China Medical University, China
Predictive Cancer Model
Innovative Approach to Detect Recurrent Colorectal Lesions With Surveillance Via Mutation Analysis & Clinical Phenotype
It is known that the development of colorectal adenoma is dependent on the appearance of somatic mutations in protooncogenes and tumor suppressor genes.
- Trial name
- MTG (NCT05929365)
- Testing
- colonoscopy
- Where
- Czechia
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Military University Hospital, Prague
Gaucher Disease, Type 1, Healthy
Prodromal Parkinsonian Features in GBA1 Mutation Carriers
Objective of the trial. To define a sub-population which is at increased risk of developing Parkinson, beyond the fact of carrying Gaucher; in this sub-population the investigators shall conduct a comprehensive evaluation that…
- Trial name
- NCT05253560
- Testing
- The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.
- Where
- Israel
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Shaare Zedek Medical Center