Clinical trials: Gene, open to volunteers
Transfusion-dependent Beta-Thalassemia, Gene Therapy
Growth and Development-related Outcomes in Children With Transfusion-dependent Beta-thalassemia After Gene Therapy
The investigate will conduct a cohort study to compare the growth and development, metabolism, lifestyle behavior, and health-related quality of life among three groups: children with transfusion-dependent β-thalassemia (TDT) who…
- Trial name
- NCT05991336
- Testing
- Gene therapy
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
ATTR, ATTR Gene Mutation
PET/CT Imaging in Carriers of TTR Mutations
The purpose of this study is to determine if TTR gene carriers have early signs of a type of heart disease called amyloidosis using a new radiotracer dye (iodine-124 evuzamitide, I-124E).
- Conditions
- ATTR, ATTR Gene Mutation, Cardiomyopathy, Transthyretin Mediated Amyloidosis (ATTR)
- Trial name
- EPIC-TTR (NCT07591038)
- Testing
- Iodine-124 Evuzamitide (I-124E)
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Nutrition, Ketogenic Diet
Dietary Macronutrients and Gut Microbiota, Inflammation, and Metabolic Markers
This 12-week randomized controlled trial will investigate the effects of dietary patterns with different macronutrient compositions on gut microbiota, intestinal inflammation, gene expression, and metabolic health in healthy…
- Conditions
- Nutrition, Ketogenic Diet, Gene Expression, Diet
- Trial name
- DIETMICRO (NCT07672691)
- Testing
- Ketogenic Diet (KD), Vegetarian Diet (VD), Control Diet (CD)
- Where
- 2 sites in Poland
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- The Jerzy Kukuczka Academy of Physical Education in Katowice
Uveal Melanoma, Cutaneous Melanoma
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
This research will have a significant impact on the overall management of those cancer patients and their family members who are at risk for hereditary cancer due to germline inactivation of BAP1.
- Conditions
- Uveal Melanoma, Cutaneous Melanoma, BAP1 Gene Mutation, Renal Cell Carcinoma
- Trial name
- NCT04792463
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Mohamed Abdel-Rahman
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)
Frontotemporal Lobar Degeneration (FTLD), Progressive Supranuclear Palsy (PSP)
ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD)
ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) represents the formalized integration of ARTFL (U54 NS092089; funded through 2019) and LEFFTDS (U01 AG045390; funded through 2019) as a single North American…
- Conditions
- Frontotemporal Lobar Degeneration (FTLD), Progressive Supranuclear Palsy (PSP), Corticobasal Degeneration (CBD), Behavioral Variant Frontotemporal Dementia (bvFTD)
- Trial name
- NCT04363684
- Where
- 26 sites in United States, Canada
- Volunteers
- 2,100 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Gene Expression, Nutrigenomics
The Improving Effects of French Maritime Pine Bark Extract on Antioxidation and Anti-inflammation a in Post-menopausal Women Based on Nutrigenomic Approach
The goal of this clinical trial is to investigate whether French maritime pine bark extract (FMPBE) supplementation can improve antioxidant capacity and reduce inflammation in postmenopausal women aged 40-75 years.
- Trial name
- NCT07855198
- Testing
- French maritime pine bark extract
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Taipei Medical University
GATA2 Gene Mutation
Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation
This trial is a translational, open-label, multi-site, retrospective and prospective cohort study of 250 patients aiming to characterize predictive parameters of clonal evolution in a population of subjects carrying the germline…
- Trial name
- GATA-2 (NCT05983991)
- Testing
- Biological samples (blood and bone marrow samples).
- Where
- 24 sites in France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Institut Claudius Regaud
BRCA1 Mutation, POLD1 Gene Mutation
An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team.
- Conditions
- BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation, BRCA2 Mutation
- Trial name
- NCT05420064
- Testing
- Intervention Arm At-risk Relative/ARR Contacts, MyGene Portal, Standard of Care
- Where
- 8 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6
- Trial name
- NCT01060371
- Testing
- Genetic Testing, Blood Collection, Magnetic Resonance Imaging (MRI) Scan
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- Lauren Moore
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
Lumbar Spinal Stenosis, Cardiac Amyloidosis
Analysis of Lumbar Spine Stenosis Specimens for Identification of Transthyretin Cardiac Amyloidosis
Primary objective: To identify older adults with transthyretin cardiac amyloidosis (ATTR-CA) early in the course of the illness, at a time when disease modifying therapies are most effective.
- Conditions
- Lumbar Spinal Stenosis, Cardiac Amyloidosis, ATTR Amyloidosis Wild Type, ATTR Gene Mutation
- Trial name
- NCT06034405
- Testing
- Tc99-PYP or Tc99-HDMP Scan
- Where
- 6 sites in United States
- Volunteers
- 1,663 people, healthy volunteers welcome
- Sponsor
- Columbia University
RAI1 Gene 17P11.2 Deletion+Duplication
Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
Currently, there is no clinically available genetic-based treatment for RAI1 (Retinoic Acid-Induced 1) -related disorders other than symptomatic management and there are no established clinical or molecular biomarkers that could…
- Trial name
- NCT06274164
- Testing
- Electroencephalography/Polysomnography (EEG/PSG), Skin Biopsy, Blood draw
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Lynch Syndrome, Lynch Syndrome I
Videocapsule Endoscopy in Lynch Syndrome
Background Lynch syndrome is caused by a pathogenic variant in one of the four Mismatch Repair genes (MMR): MLH1, MSH2/Epcam, MSH6, or PMS2.
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, MLH1 Gene Mutation
- Trial name
- NCT05704010
- Testing
- Video capsule endoscopy
- Where
- Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
Breast Cancer Risk, Ovarian Cancer Risk
Population Based Germline Testing for Early Detection and Prevention of Cancer
PROTECT-C is a research study offering genetic testing to people to see whether they have a genetic change that increases their risk of breast, ovary, bowel, and/or womb cancer.
- Conditions
- Breast Cancer Risk, Ovarian Cancer Risk, Cancer Gene Mutation
- Trial name
- PROTECT-C (NCT07498829)
- Testing
- Genetic testing for Cancer Susceptibility Genes (CSGs) (BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2, MLH1, MSH2, MSH6) and personalised breast and ovarian cancer risk
- Where
- United Kingdom
- Volunteers
- 6,000 people, healthy volunteers welcome
- Sponsor
- Queen Mary University of London
Colorectal Cancer, Adenoma Colon
Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection
This is an multicenter study that will test the diagnostic accuracy of a blood test (i.e., a liquid biopsy) for the diagnosis of colorectal cancer (CRC), advanced adenomas (AAs), as well as Lynch-syndrome associated cancers.
- Conditions
- Colorectal Cancer, Adenoma Colon, Adenoma Colon Polyp, Colon Adenoma
- Trial name
- BEACON (NCT07450612)
- Testing
- BEACON
- Where
- 4 sites in Italy
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
ISOLATION OF KLEB. by Culture on macConkey Agar, Antibiotic Sensitivity Testing of Different Antibiotics According to Clsi 25
Effect of Ceftazidime-Avibactam on Carbapenemase-Producing Klebsiella Pneumoniae
Specimen Collection : Clinical specimens included blood, urine, bronchoalveolar lavage fluid, wound, peritoneal fluid, and tracheal aspirate obtained from patients with suspected bacterial infections collected in dry sterile…
- Conditions
- ISOLATION OF KLEB. by Culture on macConkey Agar, Antibiotic Sensitivity Testing of Different Antibiotics According to Clsi 25, Effect of Ceftazidime-Avibactam on Carbapenemase-Producing Klebsiella Pneumoniae, Detection of Resistance Gene in Isolates Using Conventional Pcr
- Trial name
- NCT07369518
- Testing
- . - Genotypic detection of carbapenemase genes by conventional PCR.
- Where
- Egypt
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Sohag University
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
DDX41 Gene Mutation
Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
This is a multicenter, interventional, historico-prospective cohort pilot study aimed at specifying the phenotype of subjects carrying a constitutional familial DDX41 mutation, with a view to eventually publishing oncogenetic…
- Trial name
- LUCID (NCT06022016)
- Testing
- For each person (index case or related) included in this study:
- Where
- 5 sites in France
- Volunteers
- 910 people, healthy volunteers welcome
- Sponsor
- Institut Claudius Regaud
Gene Mutation-Related Cancer, Genetic Predisposition
Genetic Information Assistant in Telegenetics
The goal of this clinical trial is to learn about different ways cancer genetic screening can be provided to rural communities in participants at high risk for certain cancers.
- Trial name
- NCT06089421
- Testing
- Genetic Information Assistant, Telegenetics with UVA genetic counselor
- Where
- United States
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- University of Virginia