Clinical trials: Genetic Mutations
Prostate Cancer, Genetic Predisposition to Disease
Prophylactic Prostatectomy for Prostate Cancer (PPPC)
Prostate cancer affects 1-in-8 people assigned male at birth in the UK and kills almost 12,000 annually. Half the cases occur due to genetic factors.
- Conditions
- Prostate Cancer, Genetic Predisposition to Disease, BRCA Mutation
- Trial name
- PPPC (NCT06470685)
- Testing
- Qualitative Research Interviews
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Type 2 Diabetes Mellitus, Prediabetes (Insulin Resistance, Impaired Glucose Tolerance)
Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor Mutations
Background: Type 2 diabetes mellitus is a main risk factor for cardiovascular disease and heart failure, in part due to diabetic cardiomyopathy.
- Conditions
- Type 2 Diabetes Mellitus, Prediabetes (Insulin Resistance, Impaired Glucose Tolerance), Familiar Hypocalcuric Hypercalcemia, Healthy Volunteers
- Trial name
- RISC_7T (NCT02023489)
- Testing
- 1H/ 13C and 31P Magnetic Resonance Spectroscopy, Meal Tolerance Test, Hyperglycemic-hyperinsulinemic clamp
- Where
- Austria
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Medical University of Vienna
SLE (Systemic Lupus)
Clinical Characteristic and MEFV Gene Mutations in Patient With Juvenile Onest Systemic Lupus Erythematosus
Aim and objectives of this study To summarize the main clinical characteristics of patients with jSLE admitted and followed up in Assiut University children's Hospital.
- Trial name
- NCT04645225
- Testing
- . MEFV genetic testing
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Assiut University
Dent Disease
Dent Disease Mutation Genotyping
This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.
- Trial name
- NCT01783795
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Invasive Aspergillosis, Acute Leukemia
Diagnostic Study of Combined Biomnarker Testing in Bronchoalveolar Lavage Samples of Immunocompromised Patients
The aim of our prospective and multicentre diagnostic study is therefore to elucidate on the sensitivity and specificity rates of these serologic markers in combination with molecular tools (both an Aspergillus specific and a…
- Conditions
- Invasive Aspergillosis, Acute Leukemia, Biomarkers, Stem Cell Transplantation
- Trial name
- NCT01695512
- Where
- Germany
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Heidelberg University
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Usefulness of Video-Based Intervention in Helping Participants Encourage Their Families to Get Tested for BRCA Gene Mutations
This trial studies how well a video-based intervention works in helping participants encourage their families to get tested for BRCA gene mutations.
- Trial name
- NCT05264532
- Testing
- Informational Intervention, Survey Administration
- Where
- United States
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Ohio State University Comprehensive Cancer Center
HER2-positive Breast Cancer
PIK3CA in HER2+ BC and pCR Trial
The goal of the study is to evaluate the impact of somatic PI3KCA mutations on pCR in HER2-positive early breast cancer in real life. The main question it aims to answer iS.
- Trial name
- NCT05750693
- Testing
- PIK3CA analysis
- Where
- Italy
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Metastatic Breast Cancer
Study of ESR1 Mutations in Metastatic Breast Cancer
The purpose of the study is to determine the frequency ESR1 mutations by Digital PCR in patient with metastatic breast cancer.
- Trial name
- FMER (NCT02473120)
- Testing
- Determination of ESR1 mutations
- Where
- France
- Volunteers
- 104 people, healthy volunteers welcome
- Sponsor
- Centre Henri Becquerel
Genetic Predisposition, BRCA Mutation
Frequency of Occult Breast Cancer After Prophylactic Mastectomy Among High-Penetrance Breast Cancer Gene Positives
The role of Sentinel Lymph Node Biopsy(SLNB) among mutation-negative BC patients is well established; however, we are lacking data to assess the role of sentinel lymph node biopsy for patients who are undergoing surgery for…
- Conditions
- Genetic Predisposition, BRCA Mutation, Breast Cancer, Occult Cancer
- Trial name
- OBC-PM (NCT05771454)
- Testing
- Histopathological confirmation
- Where
- Pakistan
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Aga Khan University Hospital, Pakistan
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
HIV/AIDS
Characteristics and Outcomes of Patients Who Received Etravirine and/or Darunavir
The objectives of this data collection activity are to: 1. Describe the baseline demographics, clinical and laboratory profile of patients who ever received darunavir (DRV) and/or etravirine (ETR), at the time of initiation on…
- Trial name
- NewHorizon (NCT04194021)
- Where
- 5 sites in Cameroon, Eswatini and 3 more
- Volunteers
- 871 people, healthy volunteers welcome
- Sponsor
- Elizabeth Glaser Pediatric AIDS Foundation
HIV
HIV-1 Resistance at Screening for HIV Prevention Studies
MTN-009 is a multi-site, cross-sectional study that will provide an estimate of the prevalence of ARV resistance in the population of women who present to study sites to be pre-screened or screened for participation in an HIV…
- Trial name
- NCT01204814
- Where
- 7 sites in South Africa
- Volunteers
- 1,074 people, healthy volunteers welcome
- Sponsor
- Microbicide Trials Network
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
Genetic Disease, Nonsense Mutation
Phase 1 Study of ELX-02 in Healthy Adult Subjects
Phase 1 Multiple Ascending Dose Study in Normal Healthy Volunteers
- Trial name
- NCT03309605
- Testing
- ELX-02
- Where
- Belgium
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Diabetes
Personalised Medicine for Morbid Obesity
The prevalence of morbid obesity (BMI > 40 kg/m2) is increasing rapidly in the UK, but the investigators lack a coherent strategy for detailed assessment and treatment of the individuals affected, who are at high risk of…
- Trial name
- NCT01365416
- Where
- United Kingdom
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Imperial College London
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
Mutation, Obesity
Identification and Metabolic Characterization of a Cohort of Human Subjects With Mutations in PRDM-16
Chinese male subjects will be invited to participate in a research study of brown fat, a special tissue in the body that is designed to burn energy to make heat.
- Conditions
- Mutation, Obesity, Dyslipidemia, Diabetes
- Trial name
- NCT02808715
- Testing
- Blood Sample Collection
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- National Heart Centre Singapore
Alzheimer Disease
Study of Genetic Alzheimer's Disease Mutation Carriers in Preclinical Stages of the Disease 18F-Florbetaben Positron Emission Tomography Study
The main purpose of the study is to assess safety of a single dose of FBB followed by PET scan in individuals at risk of genetic Alzheimer's disease.
- Trial name
- NCT02362880
- Testing
- Florbetaben
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Judit Pich Martínez
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
Familial Lipomatosis, Very Rare Dermatologic Diseases
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
- Trial name
- DERMA-SEQ (NCT02509650)
- Where
- 2 sites in France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France