Clinical trials: Genetic Change
Neurofibromatosis 1
Systematically Assessing Changes in Plexiform Neurofibroma Related Disfigurement From Photographs of Subjects With Neurofibromatosis Type 1 on a Phase 2 Clinical Trial
Background: People with Neurofibromatosis type 1 (NF1) have an increased risk of developing plexiform neurofibromas (PNs). PNs are tumors that form in the tissue. They can form anywhere in the body.
- Trial name
- NCT04879160
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cystic Fibrosis
Hormonal Responses to a Mixed Meal in People With Cystic Fibrosis
In this exploratory study, the hormonal responses to a mixed meal will be examined in people with cystic fibrosis. The aim of this study is to find correlates with impaired glucose tolerance that is associated with this…
- Trial name
- NCT06163482
- Testing
- Mixed meal
- Where
- United States
- Volunteers
- 61 people, healthy volunteers welcome
- Sponsor
- University of Cincinnati
Morquio Disease, MPS - Mucopolysaccharidosis
Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them?
The present study seeks to interview women with Morquio A and Morquio B syndrome, to explore their concerns surrounding pregnancy and the impact of ERT on their perspectives, in comparison with the control group of Morquio B…
- Trial name
- MorqPreg (NCT03150069)
- Testing
- Interview
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Emory University
Skin Laxity, Meibomian Gland Dysfunction
Evaluation of Ocular Surface Changes Following RF Electrocoagulation Treatment of the Periorbital Region
This protocol will evaluate THERMIeyes® for its ability to treat periorbital skin laxity and wrinkles and monitor ocular surface changes and their effect on evaporative dry eye associated with MGD.
- Trial name
- NCT03280069
- Testing
- THERMIeyes® 20 RF System
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Ophthalmic Consultants of Long Island
Obesity, Childhood, Asthma in Children
Asthma and Obesity Diet Versus Exercise
Obesity is recognized as a pro-inflammatory condition associated with multiple chronic diseases, including asthma. The specific mechanisms linking asthma and obesity remain hypothetical.
- Conditions
- Obesity, Childhood, Asthma in Children, Inflammatory Response, Metabolic Syndrome
- Trial name
- NCT03644355
- Testing
- Lifestyle counseling
- Where
- United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Louisiana State University Health Sciences Center in New Orleans
Duchenne Dystrophy Muscular
Biomechanical and Morphological Changes in Dystrophic Muscle
The loss of ability to walk in many children with DMD (Duchenne muscular Dystrophy) is a pejorative event. Biomechanical and morphological unknowledge about the loss of the walk ability in children with DMD is an obstacle in…
- Trial name
- MARCHE-DMD (NCT02472990)
- Where
- 10 sites in France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University Hospital, Brest
Inflammation, Heart Failure
Beer, Marathon, Genetics, Inflammation and the Cardiovascular System: Be-MaGIC-Trial
The purpose of the study is to determine the myocardial function and vascular adaptation after strenuous exercise in association with consumption of polyphenols.
- Conditions
- Inflammation, Heart Failure, Sudden Cardiac Death
- Trial name
- Be-MaGIC (NCT00933218)
- Testing
- polyphenols (non-alcoholic beer), beverage without polyphenols
- Where
- Germany
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Technical University of Munich
Calorie Deficiency, Fasting
Effects of Calorie Restriction and Cold Stimuli on Health-related Indicators, Cognitive and Motor Functions
The goal of this clinical trial was to identify if duration of acute calorie restriction (CR)/fasting or combination CR with cold stimuli have any effects on mental and physical health-related markers, and to clarify if different…
- Conditions
- Calorie Deficiency, Fasting, Cold Exposure
- Trial name
- NCT05545943
- Testing
- 2-days of zero calorie restriction and whole-body cold-water immersion, 6-days of calorie restriction, 2-days of zero calorie restriction without whole-body cold-water immersion
- Where
- Lithuania
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Lithuanian Sports University
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
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
Cancer Genetics
Adaptation to Living With a BRCA1/2 Mutation
Background: Women who have a BRCA1/2 gene mutation have a very high risk of developing breast or ovarian cancer. They are also at increased risk of other developing other cancers.
- Trial name
- NCT01866865
- Where
- United States
- Volunteers
- 142 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
BRCA1/2 Mutation
INO 5401 Vaccination in BRCA1/2 Mutation Carriers
The research study is being conducted to test an experimental vaccine to potentially prevent cancer for people with BRCA1 or BRCA2 mutations.
- Trial name
- NCT04367675
- Testing
- INO-5401, INO-9012, Cellectra 2000
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
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
Kartagener Syndrome
Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
The overall short-term goals of this project include the following: 1) identify the genes that are key to the function of respiratory cilia to protect the normal lung; and 2) the effects of genetic mutations that adversely affect…
- Trial name
- NCT00807482
- Where
- United States
- Volunteers
- 1,800 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Opioid Sensitivity, Individual Difference
A118G SNP and OPRM1 Gene Opioid-Mediated Effects in Humans
Within-subject, double-blind, placebo-controlled examination of opioid abuse potential in healthy individuals as a function of A118G SNP on the OPRM1 gene.
- Conditions
- Opioid Sensitivity, Individual Difference, Abuse Opioids
- Trial name
- NCT02360371
- Testing
- Within-subject test of blinded study medication
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Metabolism, Interaction
-Methylenedioxymethamphetamine (MDMA, Ecstasy) Induced Changes in Drug Metabolism: Gender and Genetic Polymorphisms
The purpose of this study are: 1. to evaluate the involvement of CYP2D6, CYP3A4 and CYP1A2 (through dextromethorphan and caffeine challenges), and catechol-O-methyltransferase (COMT)in MDMA metabolism 2.
- Trial name
- NCT01447472
- Testing
- MDMA
- Where
- Spain
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Parc de Salut Mar
ASD, Autism Spectrum Disorder
The Effects of Tailored Judo Training and Nutritional Counseling on Physical Fitness and Body Composition in Children With Autism: A Study Including Blood Morphology and Genetic Analysis
The present research project aims to testing adapted judo training as a form of supportive developmental therapy, combined with nutritional counseling, to influence physical fitness, dietary habits, body composition, body…
- Conditions
- ASD, Autism Spectrum Disorder, Autism Spectrum Disorder High-Functioning, Autism Spectrum
- Trial name
- AdaptedJudoASD (NCT07442994)
- Testing
- Adapted judo training for children and adeloscence with and without autism spectrum disorder - training in integrated groups
- Where
- Poland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Poznan University of Physical Education
Cardiovascular Diseases (CVD)
Healthy Living With Online suPport & Education for Cardiovascular Disease in the Primary Care Setting
This pragmatic four-arm (1:1:1:1) parallel cluster randomised controlled trial (cRCT) aims to evaluate the effectiveness of reducing the risk of cardiovascular disease (CVD) through three combinations of interventions for…
- Trial name
- HOPE-CVD-GP (NCT06099353)
- Testing
- Heart Age, Heart Age-HOPE-CVD App, Communication of Genetic Risk Score
- Where
- Singapore
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Nanyang Technological University
Atopic Dermatitis Eczema, Aging
Impact of Regular Consumption of Eggs and Nutrients Fortified Eggs on Eczema Condition in Singapore Individuals
The study aims to assess the effects of daily consumption of nutrients-fortified eggs on eczema condition in Singapore individuals with eczema.
- Conditions
- Atopic Dermatitis Eczema, Aging, Diet Modification
- Trial name
- NCT06454942
- Testing
- Nutrient-fortified egg, Regular egg with habitual diet
- Where
- Singapore
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- National University of Singapore
Body Mass Index 25 or Greater, BRCA1 Gene Mutation
Energy Balance Interventions in Increasing Physical Activity in Breast Cancer Gene Positive Patients, Lynch Syndrome-Positive Patients, CLL Survivors or High-Risk Family Members
This pilot clinical trial studies different types of energy balance interventions to see how well they work in increasing the physical activity levels of breast cancer gene-positive patients, Lynch syndrome-positive patients…
- Conditions
- Body Mass Index 25 or Greater, BRCA1 Gene Mutation, BRCA2 Gene Mutation, Breast Carcinoma
- Trial name
- NCT02194387
- Testing
- Dietary Intervention, Internet-Based Intervention, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 337 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center