Clinical trials: Gene Mutation
Myeloproliferative Neoplasm
Evaluation of the Pathobiology of CALR-mutated MPN Cells
The purpose of this study is to understand why there is a greater risk of thrombosis in patients who have the JAK2 mutation as compared to those with CALR mutations.
- Trial name
- NCT06480591
- Testing
- Blood Draw
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Parkinson's Disease With LRRK2 Mutation, Healthy Controls
Measure of Microglial Activation in the Brain of Parkinson Disease Patients With PET
There is accumulating evidence suggesting that inflammatory processes, through microglial activation, would play a key role in the neurodegenerative process of Parkinson's disease (PD).
- Conditions
- Parkinson's Disease With LRRK2 Mutation, Healthy Controls, Parkinson's Disease Without LRRK2 Mutation
- Trial name
- INFLAPARK (NCT02319382)
- Testing
- PET with the tracer 18F-DPA-714, PET with the tracer 11C-PE2I, MRI
- Where
- France
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III
Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. These genes are named U12 genes, and these introns, minor or U12 introns.
- Conditions
- Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III, Roifman Syndrome, Lowry Wood Syndrome
- Trial name
- ATAC (NCT06111950)
- Testing
- Blood samples, Skin biopsies, Fetal samples
- Where
- 6 sites in France
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Breast Cancer, Genetic Predisposition
Psyco Quality of Life and Procreation BRCA1/2
Women with breast and/or ovarian cancer or with a family history carried these pathologies can makeo genetic counseling in order to investigate whether they are carriers of the BRCA1/2 genetic mutation.
- Trial name
- QoL (NCT05857670)
- Testing
- Genetic predisposition to breast cancer
- Where
- 2 sites in Italy
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Regina Elena Cancer Institute
Childhood Obesity
Obesity Prevention in Head Start
Family style dining is a widely-advocated approach by which to feed children in early education settings. While family-style dining is hypothesized to allow children to attend to their hunger and satiety and consume only the…
- Trial name
- NCT03672227
- Testing
- Mealtime Matters Training
- Where
- United States
- Volunteers
- 164 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Zinc Fingers Proteins
Prevalence of a Non-Expressing 11B Mutation in Aka Peoples of the Central African Republic
The CCCH tandem zinc finger proteins are members of a small family of proteins that regulate the stability of certain types of mRNA containing so-called class II AU-rich elements in their 3'-untranslated regions.
- Trial name
- NCT00340769
- Where
- 3 sites in United States, Central African Republic
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Non-Vital Tooth
Turmeric Gel as Alternative Non-vital Pulpotomy Medicament in Primary Teeth
The purpose of this randomized controlled clinical trial is to use Turmeric gel as non-vital Pulpotomy medicament compared to Formocresol in primary teeth by evaluating its antibacterial effect against Streptococcus mutans and…
- Trial name
- NCT05801354
- Testing
- Turmeric Gel, Formocresol
- Where
- Pakistan
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Health Sciences Lahore
Lamin A/C Gene Mutation, Dilated Cardiomyopathy, Familial
The Deep Phenotype of Lamin A/C Cardiomyopathy
This study seeks to discover clinically useful tests to improve the diagnosis of a rare and serious heart muscle disease caused by mutations in a gene called 'Lamin'.
- Trial name
- NCT03860454
- Where
- 6 sites in United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University College, London
Obesity Prevention
Assessing Obesity Related Risk Factors in Adult Population: A Genetic and Behavioral Study
This study aims to explore the association between Melanocortin-4 Receptor (MC4R) polymorphisms, eating habits, and social determinants of health in a heterogeneous adult population in Georgia, USA.
- Trial name
- ORF (NCT07341841)
- Testing
- Diet and exercise, Lifestyle Intervention, Exercise
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Augusta University
Complementary Alternative Medicine, Menopause
Therapeutic Touch and Foot Reflexology on Sleep Quality and Menopausal Symptoms
This randomized controlled trial was designed to compare the effects of therapeutic touch and reflexology on sleep quality and menopausal symptoms in postmenopausal women affected by the February 6, 2023 Kahramanmaraş…
- Conditions
- Complementary Alternative Medicine, Menopause, Sleep Disturbance
- Trial name
- NCT07767318
- Testing
- Therapeutic Touch, Foot Reflexology
- Where
- Turkey (Türkiye)
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- Osmaniye Korkut Ata University
Hemianopsia
Therapeutic Effects of Transcranial Alternative Current Stimulation (tACS) in Chronic Post Stroke Hemianopia
Background: The most common visual field deficit after retro-chiasmatic lesions is homonymous hemianopia (HH), defined as the impossibility of seeing the contralesional visual hemisphere without ocular injury.
- Trial name
- HEMIANOTACS (NCT04043689)
- Testing
- tACS (transcranial Alternate Current Stimulation)
- Where
- France
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Ocular Physiology
Evaluation of ACUVUE® OASYS 1-Day for Astigmatism Contact Lenses With Alternative Lidstock
This will be a single-visit, randomized, double-masked, bilateral wear, non-dispensing, 2-sequence × 2-period crossover study to evaluate subject reported ocular symptoms.
- Trial name
- NCT05713552
- Testing
- Acuvue Oasys 1 Day for Astigmatism with Legacy lidstock, Acuvue Oasys 1 Day for Astigmatism with Amcor laminated lidstock
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Johnson & Johnson Vision Care, Inc.
Bladder Cancer, Colorectal Cancer
The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)
The goal of this study is to understand factors which may influence risk for colorectal and other cancers in families. These factors include genetic variability, in combination with diet and lifestyle.
- Conditions
- Bladder Cancer, Colorectal Cancer, Endometrial Cancer, Kidney Cancer
- Trial name
- NCT01447199
- Testing
- Health and Diet Questionnaire
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Obesity
Study of Two Complementary and Alternative Medical Treatments for Maintenance of Weight Loss
The goal of this study is to pilot test in a group of overweight-obese individuals the feasibility and acceptability and indications of efficacy of two CAM treatments, qigong, and acupressure-TAT, for improving long term…
- Trial name
- NCT00069732
- Testing
- qigong, acupressure-TAT
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Kaiser Permanente
Colorectal Cancer, Adenomatous Polyps
Multitarget Stool FIT-DNA Study for Colorectal Cancer Early Screening in China
The primary objective is to determine the diagnostic sensitivity and specificity of the newly developed multitarget FIT-DNA Colorectal Cancer (CRC) screening test (ColoClear) for detecting advanced neoplasia (including colorectal…
- Conditions
- Colorectal Cancer, Adenomatous Polyps, Adenoma, Advanced Adenoma
- Trial name
- CLEAR-C (NCT04287335)
- Testing
- Multitarget stool FIT-DNA test - ColoClear, FIT, Colonoscopy
- Where
- 8 sites in China
- Volunteers
- 4,758 people, healthy volunteers welcome
- Sponsor
- Zhejiang University
Visual Field Defect, Peripheral
Virtual Reality Visual Field Testing as an Alternative in Childhood Eye Disease
The purpose of this study is to test a new way of measuring the peripheral vision (called a visual field test) using a device which can be worn as goggles rather than being a large instrument the patient must sit at.
- Trial name
- NCT05150197
- Testing
- VisuALL, Humphrey Visual Field
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Duke University
Schizophrenia, Chinese Han People
Mutation Screening and Translocation Detection of DISC1 Gene in Schizophrenia
Several chromosomal loci obtained from genetic linkage studies have been reported of relating to schizophrenia. These areas include of 1q32-41, 6p24-21, 8p22-21, 15q13-14, and 22q11-12.
- Trial name
- NCT00155818
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Type 2 Diabetes Mellitus
Investigating the Acute Effect of Alternative Forms of Physical Activity in a Multi-ethnic Population
The amount of people with diabetes has now reached over 4 million in the United Kingdom. Type 2 Diabetes accounts for the majority of all cases of diabetes and increases the risk of many other diseases, such as heart disease.
- Trial name
- NCT03549390
- Testing
- Physical activity
- Where
- United Kingdom
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- University of Leicester
Healthy, Pulmonary Fibrosis
Identification of Genes Associated With Lung Disease in Patients With Rheumatoid Arthritis
Pulmonary fibrosis (PF) is a condition in which the lungs of a patient become scarred and fibrous. It has been known to occur in as many as 40% of patients diagnosed with rheumatoid arthritis (RA).
- Conditions
- Healthy, Pulmonary Fibrosis, Rheumatoid Arthritis
- Trial name
- NCT00001885
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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