Clinical trials: Gene Mutations
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
Patients With Parkinson's Disease (PD) Caused by the p.Gly2019Ser (G2019S) Pathogenic Mutation of the Leucine-Rich Repeat Kinase 2 (LRRK2) Gene
A Natural History Study of Patients With G2019S LRRK2 Parkinson's Disease
To characterize using a participant centered decentralized (at home) study featuring wearable technology and telemedicine to study disease change over time in patients with PD caused by the G2019S mutation in the LRRK2 gene and…
- Trial name
- NCT05349019
- Testing
- Observational
- Where
- United States
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Escape Bio, Inc.
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
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)
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
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
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
Ovarian Epithelial Cancer, Carcinoma in Situ
Lavage of the Uterine Cavity for the Diagnosis of Serous Tubal Intraepithelial Carcinoma
The current study aims at answering the scientific question, whether exfoliated cells from STICs get transported into the uterine cavity via the fallopian tube, and whether it is possible to detect those cells in the lavage fluid…
- Conditions
- Ovarian Epithelial Cancer, Carcinoma in Situ, Ovarian Cancer
- Trial name
- LUSTIC (NCT02039388)
- Testing
- Lavage of the Cavum uteri and proximal Fallopian tubes, performed in the luteal phase of the female cycle
- Where
- 14 sites in Austria, Belgium and 6 more
- Volunteers
- 701 people, healthy volunteers welcome
- Sponsor
- Medical University of Vienna
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
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
Lung Cancer, EGFR Gene Mutation
EQUAL: EGFR ctDNA QUantative Assessment for Lung Cancer Screening in Asian and Latinx Populations
This research study is studying a new blood test to screen for Epidermal Growth Factor Receptor (EGFR) positive lung cancer in healthy individuals at risk for the disease and who cannot undergo regular lung cancer screening.
- Trial name
- EQUAL (NCT06716580)
- Testing
- Circulating Tumor DNA (ctDNA) Assay
- Where
- 6 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Dana-Farber Cancer Institute
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
Dental Caries
Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype
Alteration of the post- eruptive enamel microstructure due to a mutation of a gene coding for a matrix protein could increase the susceptibility of the enamel to caries after tooth eruption.
- Trial name
- Cariogene (NCT00541060)
- Testing
- mutation
- Where
- France
- Volunteers
- 390 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Breast Cancer
The Registration Program of BRCA1/2 Gene
Purpose: 1. Screening of large samples is to search the gene mutation of the breast cancer susceptibility gene (BRCA1 and BRCA2) in Chinese high risk group. 2.
- Trial name
- RCA (NCT02593435)
- Testing
- NGS test
- Where
- China
- Volunteers
- 8,000 people, healthy volunteers welcome
- Sponsor
- Chinese Anti-Cancer Association
Parkinson Disease, LRRK2
LRRK2, GBA and Other Genetic Biomarkers in Eastern European (Ashkenazi) Jews With and Without Parkinson's Disease
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.
- Conditions
- Parkinson Disease, LRRK2, GBA Gene Mutation
- Trial name
- BioPD (NCT04668898)
- Where
- United States
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- Icahn School of Medicine at Mount Sinai