Clinical trials: Genetic, open to volunteers
Atopic Dermatitis
Changes in Skin Myco- and Microbiome After Lebrikizumab Treatment
The goal of this observational study is to characterize the skin myco- and microbiome of patients with atopic dermatitis before and after initiation of treatment with lebrikizumab.
- Trial name
- NCT07807228
- Where
- Denmark
- Volunteers
- 60 people
- Sponsor
- University Hospital Bispebjerg and Frederiksberg
Eczema/Atopic Dermatitis, Otitis Externa
Nigella Sativa Oil for Eczematous Otitis Externa
Eczematous otitis externa is a common inflammatory condition of the external auditory canal characterized by itching, discomfort, discharge, and pain.
- Trial name
- NCT07525505
- Testing
- Mometasone Furoate (MF), Nigella sativa oil
- Where
- Turkey (Türkiye)
- Volunteers
- 85 people
- Sponsor
- Bezmialem Vakif University
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Breast Cancer Risk, Cardiovascular Disease Risk
The RISC Registry--Risk Informed Screening Registry
Chronic diseases such as heart disease, cancer, and diabetes are the leading causes of death and disability in the United States. Six in ten adults have one chronic disease; 4 in 10 have two or more.
- Conditions
- Breast Cancer Risk, Cardiovascular Disease Risk, Cardiometabolic Risk, Diabetes
- Trial name
- RISC (NCT05848856)
- Testing
- Breast Cancer, Cardiometabolic, Cardiovascular Risk Screening and Follow up
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Precision Health Equity Initiative
MPNST, NF1
Trial of Selumetinib and Bromodomain Inhibitor With Durvalumab for Sarcomas
A multi-institutional open-label phase 1/2 trial of selumetinib in combination with ZEN-3694 and durvalumab in refractory/unresectable sarcomas including MPNST.
- Conditions
- MPNST, NF1, Sarcoma
- Trial name
- NCT05253131
- Testing
- Selumetinib + ZEN-3694 ± Durvalumab
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- University of Alabama at Birmingham
Stroke, Tracheotomy Patients
Study on the Correlation Mechanism and Application of Genetic Susceptibility, Hemoglobin Adaptation Changes, and Extubation Success Rate in Stroke Patients With Tracheotomy at Different Altitudes
Patients with brain injuries caused by various reasons often need tracheotomy to improve breathing, but this procedure can cause the air to lose its nasal regulation, increase the risk of lung infections, and reduce their quality…
- Trial name
- NCT07014501
- Testing
- High altitude, Medium altitude, Low altitude group
- Where
- China
- Volunteers
- 717 people
- Sponsor
- The Second Affiliated Hospital of Kunming Medical University
Cancer, Cancer Gene Mutation
INTERogating Cancer for Etiology, Prevention and Therapy Navigation
This study is being done to identify markers and causes of cancer by analyzing patient's DNA (i.e., genetic material), RNA, plasma, tissues, or other samples that could be informative for patients with cancer.
- Conditions
- Cancer, Cancer Gene Mutation, PAN Gene Mutation, Hematopoietic and Lymphoid System Neoplasm
- Trial name
- INTERCEPTioN (NCT06008392)
- Testing
- Pan-genomic Testing
- Where
- 5 sites in United States
- Volunteers
- 500 people
- Sponsor
- Mayo Clinic
Colorectal Adenomatous Polyp, Colorectal Carcinoma
Testing for Safety and Colorectal Cancer Preventive Effects of ONC201
The purpose of this phase I trial is to test the safety and cancer preventive effects of different doses of ONC201 in people with familial adenomatous polyposis (FAP) or a history of multiple polyps.
- Conditions
- Colorectal Adenomatous Polyp, Colorectal Carcinoma, Familial Adenomatous Polyposis, Multiple Adenomatous Polyps
- Trial name
- NCT05630794
- Testing
- Biopsy Procedure, Biospecimen Collection, Colonoscopy
- Where
- 5 sites in United States
- Volunteers
- 36 people
- Sponsor
- National Cancer Institute (NCI)
Atrial Fibrillation, Ventricular Tachycardia
Defining the Risk of Ventricular Tachycardia in Genetic Cardiomyopathies
The goal of this observational study is to determine if electrophysiologic mapping and cardiac MRI can help identify patients that have genetic forms of cardiomyopathy that are at high risk for development of dangerous…
- Conditions
- Atrial Fibrillation, Ventricular Tachycardia, Premature Ventricular Contraction
- Trial name
- NCT06575881
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Vanderbilt University Medical Center
Isolated Noncompaction of the Ventricular Myocardium
Risk Stratification and Early Prevention Strategies for Non-compaction of Ventricular Myocardium (CAPTAIN)
This study intends to retrospectively-prospectively enroll NVM patients from multiple centers to establish a natural population cohort of NVM patients.
- Trial name
- NCT06504056
- Testing
- Diagnosis of NVM
- Where
- China
- Volunteers
- 2,000 people
- Sponsor
- First Affiliated Hospital Xi'an Jiaotong University
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Immune Thrombocytopenia, Thrombotic Thrombocytopenic Purpura
Longitudinal Cohort of Thrombosis and Hemostasis Diseases
This is a multicenter, prospective, longitudinal, observational cohort study to investigate thrombosis and hemostasis diseases in Chinese patients.
- Conditions
- Immune Thrombocytopenia, Thrombotic Thrombocytopenic Purpura, Hemophilia A, Acquired, Disseminated Intravascular Coagulation
- Trial name
- NCT06727669
- Where
- 5 sites in China
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Peking University People's Hospital
Blood Coagulation Disorders, Inherited, Thrombotic Disorder
Evaluation of Hemostasis in Bleeding and Thrombotic Disorders
The objective of this study will be to assess the coagulation system in-vitro in a variety of bleeding and clotting disorders using the ROTEG analyzer and the thrombin generation assay.
- Trial name
- NCT00178594
- Where
- 2 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- The University of Texas Health Science Center, Houston
Neuroendocrine Carcinoma of Lung, Neuroendocrine Carcinoma of Thymus
CompArative Analysis Between, Thymic, pulmonaRy and Pancreatic Well Differentiated High Grade Neuroendocrine Tumors
The study involves the enrollment of 34 patients diagnosed with advanced thymic, pulmonary and duodeno-pancreatic well-differentiated high grade neuroendocrine tumors (Ki-67 > 20%).
- Trial name
- LINEAR (NCT07429851)
- Where
- Italy
- Volunteers
- 34 people
- Sponsor
- European Institute of Oncology
Cancer
Genetic Information for Families After Tumor Testing Study
The purpose of this study is to develop and implement a methodology of digital tools paired with telemedicine to improve cascade testing for clinically significant germline mutations among family members of children with cancer…
- Trial name
- GIFTT (NCT07517666)
- Testing
- Interactive Chatbot
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2 Open-label study is to evaluate the long-term safety and tolerability of Ultevursen administered via intravitreal injection (IVT) in participants with Retinitis Pigmentosa due to mutations in exon 13…
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- CAPELLA (NCT07796646)
- Testing
- No intervention, will not receive any active study intervention, Intravitreal Injection of Ultevursen
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Basal Cell Carcinoma, Locally Advanced Basal Cell Carcinoma
Oral Hedgehog Inhibitors in the Treatment of Basal Cell Carcinoma in the Netherlands: a Prospective Registration Study
Background: Oral hedgehog inhibitors vismodegib and sonidegib have been used for the treatment of locally advanced (laBCC), metastatic basal cell carcinoma (mBCC) and in basal cell nevus syndrome (BCNS) patients.
- Conditions
- Basal Cell Carcinoma, Locally Advanced Basal Cell Carcinoma, Metastatic Basal Cell Carcinoma, Gorlin Syndrome
- Trial name
- NCT05463757
- Testing
- Vismodegib, Sonidegib
- Where
- 8 sites in Netherlands
- Volunteers
- 80 people
- Sponsor
- Maastricht University Medical Center
Gynaecological Cancers, Ovarian Cancer
Methylation Profiling in Self-Samples for Identification of (Epi)Genetic Biomarkers for Gynecological Cancers
The goal of the MYSSELF (Methylation Profiling in Self-Samples for Identification of (Epi)Genetic Biomarkers for Gynecological Cancers) study is to investigate which biological markers (i.e., (epi)genetic biomarkers) found in…
- Conditions
- Gynaecological Cancers, Ovarian Cancer, Endometrial Cancer, Vulvar Cancer
- Trial name
- MYSSELF (NCT07902375)
- Testing
- Colli-Pee 20 mL device with UCM, Evalyn Brush
- Where
- Belgium
- Volunteers
- 730 people
- Sponsor
- Universiteit Antwerpen
Tuberous Sclerosis, Lymphangioleiomyomatosis
TSC Biosample Repository and Natural History Database
The TSC Biosample Repository collects and stores samples of blood, DNA, and tissues that scientists can request to use in their research. The samples we collect are all linked to clinical data in the TSC Natural History Database.
- Trial name
- NCT05676099
- Testing
- Phlebotomy, Buccal (cheek) swab, Genetic Testing
- Where
- 26 sites in United States, Canada
- Volunteers
- 5,000 people
- Sponsor
- National Tuberous Sclerosis Association
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