Clinical trials: Genetic Disorders
Breast Cancer, Ovarian Cancer
Genetic Studies in Breast Cancer
The purpose of this study is to determine the specific genetic alterations associated with breast cancer. This will leat to a better understanding of the genetic causes of breast cancer.
- Trial name
- NCT00582322
- Where
- United States
- Volunteers
- 483 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Rosacea
Genetic Basis of Rosacea Study (Control)
Rosacea is a common disease characterized by inflammation and vascular abnormalities of the facial skin and ocular surface. It it considered to be a syndrome encompassing various combinations of cutaneous signs including…
- Trial name
- NCT02749786
- Testing
- Skin Biopsy
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Stanford University
Attention Deficit Disorder With Hyperactivity
Genetic, Brain Structure, and Environmental Effects on ADHD
Background: Attention deficit hyperactivity disorder (ADHD) is one of the most common and inheritable of all neuropsychiatric disorders. It causes problems with attention and impulse control.
- Trial name
- NCT01721720
- Where
- United States
- Volunteers
- 1,091 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Down Syndrome
Resilience Training Intervention: Its Effect on Parental Acceptance/Rejection and Burden of Children With Down Syndrome
This research will test whether a resilience training program can help parents of children with Down syndrome feel more accepting of their child and experience less caregiving burden.
- Trial name
- NCT07306923
- Testing
- resilience training intervention
- Where
- Egypt
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Ain Shams University
Down Syndrome
Oxygen Uptake Kinetics During Submaximal Exercise in Adults With Down Syndrome
This study aims to compare the rate at which oxygen uptake adapts to submaximal, moderate intensity exercise (oxygen uptake kinetics) between adults with and without Down syndrome, to determine the contribution of oxygen uptake…
- Trial name
- NCT05995223
- Testing
- Submaximal exercise protocol
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- University of Nevada, Las Vegas
Age-Related Macular Degeneration
The Role of Complement Factor H Polymorphism in the Regulation of Choroidal Vascular Tone in Young Healthy Subjects
Age related macular degeneration (AMD) is a multifactorial disease with a strong genetic component. Given that it is known that impaired regulation of choroidal vascular tone is present in patients with AMD, the current study…
- Trial name
- NCT02102880
- Testing
- the polymerase chain reaction (PCR)
- Where
- Austria
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- Medical University of Vienna
Skin Laxity
Safety and Effectiveness Evaluation of the Device in Achieving Submental Lift
A prospective evaluation of the ThermiRF device in treating skin laxity under the chin and neck. Seventy male and female subjects between the age of 35 and 65 (inclusive) will be enrolled in this trial.
- Trial name
- NCT02832674
- Testing
- Percutaneous Radiofrequency single treatment
- Where
- United States
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- ThermiGen, LLC
Predisposition, Genetic
The Informed Genetics Annotated Patient Registry
This prospective and retrospective registry will evaluate the clinical effectiveness of Germline Genetic, Genomic, and other Biomarker testing results over time in different clinical populations, in order to shape guidelines for…
- Trial name
- iGAP (NCT04419896)
- Where
- 5 sites in United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Medneon
Hyperphenylalaninemia, Phenylketonuria
Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
Prospective study to compare the bone mineral density in adults with HPA on KUVAN™ therapy to those not on therapy. The investigators hypothesize that after one year of KUVAN™ therapy, there will be an improvement in their bone…
- Trial name
- NCT01541397
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston
Alzheimer Disease
Risk Evaluation and Education for Alzheimer's Disease (REVEAL) II
The REVEAL II study provides healthy adult children and siblings of Alzheimer's disease patients with genetic testing and information about their own chances of developing the disease.
- Trial name
- NCT00089882
- Testing
- APOE Genetic susceptibility testing
- Where
- 4 sites in United States
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- National Institute on Aging (NIA)
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
Duchenne Muscular Dystrophy, Muscular Dystrophies
Non-invasive Imaging of Muscle Structure in Duchenne Muscular Dystrophy Using Multispectral Optoacoustic Tomography
This pilot study aims to assess subcellular muscle structure in patients with Duchenne X-linked progressive Duchenne muscular dystrophy (DMD) in comparison to healthy volunteers using multispectral optoacoustic tomography (MSOT).
- Conditions
- Duchenne Muscular Dystrophy, Muscular Dystrophies, Muscular Dystrophy, Duchenne
- Trial name
- MSOT_DMD (NCT03490214)
- Testing
- Multispectral Optoacoustic Tomography
- Where
- Germany
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Erlangen-Nürnberg Medical School
Cystic Fibrosis, Contraception
Assessment of Contraceptive Safety and Effectiveness in Cystic Fibrosis
The long-term goal is to study the safety and effectiveness of hormonal contraception for women with cystic fibrosis (CF) and contribute to national guidelines that the Cystic Fibrosis Foundation and the Centers for Disease…
- Trial name
- CASE4CF (NCT04568980)
- Where
- 10 sites in United States
- Volunteers
- 562 people, healthy volunteers welcome
- Sponsor
- University of Washington
Cholestasis, Genetic Liver Disorder
PET/CT Scans Using the Tracer 11C-Csar, a Bile Acid Analog, to Depict and Visualize Cholestatic Disorders in Patients with Genetic Liver Disorders and Healthy Individuals
Purpose The primary goal is to study liver diseases with defects in bile excretion. Investigators aim to do this using a radioactive tracer that mimics human bile and can be visualized with a PET/CT scanner.
- Trial name
- NCT06610695
- Where
- Denmark
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Cystic Fibrosis
A Study to Investigate the Safety and Tolerability of Single and Multiple Ascending Doses of KIT2014 in Healthy Subjects
This is the first-in-human study with KIT2014 designed to provide safety, tolerability and pharmacokinetic data in healthy volunteers.
- Trial name
- NCT06659757
- Testing
- KIT2014
- Where
- Australia
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Kither Biotech Srl
Hearing Loss, Late-Onset Hearing Loss
Genetic Testing in Detection of Late-Onset Hearing Loss
Two major limitations of existing audiometric newborn hearing screening programs are their inability to detect forms of deafness that are not expressed at birth and the low compliance with obtaining recommended audiologic…
- Conditions
- Hearing Loss, Late-Onset Hearing Loss, Deafness
- Trial name
- SoundGene (NCT00511381)
- Testing
- No intervention
- Where
- 3 sites in United States
- Volunteers
- 3,681 people, healthy volunteers welcome
- Sponsor
- Pediatrix
Anxiety Disorders
Identifying Brain and Genetic Markers of Sertraline Treatment Response in People With Social Anxiety Disorder
This study will attempt to identify gene and brain activity markers that predict whether people with social anxiety disorder will respond to selective serotonin reuptake inhibitor medications.
- Trial name
- NCT00872131
- Testing
- Sertraline
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Autosomal Dominant Polycystic Kidney Disease
Assessment of Longitudinal Changes in Endothelial Function and Oxidative Stress in Normotensive Patients With ADPKD
The purpose of this study is to determine whether patients with autosomal dominant polycystic kidney disease (ADPKD) present with abnormal endothelial function, increased levels of NOX4 activity and mitochondrial abnormalities…
- Trial name
- NCT03493802
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Coronary Heart Disease, Susceptibility to, 5, Prediabetic State
Genetic Risk and Health Coaching for Type 2 Diabetes and Coronary Heart Disease
The purpose of this study is to examine whether the use of genetic test information and/or health coaching in patient risk counseling for heart disease and diabetes affect health behaviors and health outcomes in active-duty Air…
- Trial name
- NCT01884545
- Testing
- Health coaching, Genetic risk counseling, Standard risk assessment
- Where
- United States
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- Duke University
Puberty, Precocious, Adiposity
Long-term Outcome of GnRH Analogues Treatment of Children With Idiopathic Central Precocious Puberty
This study evaluates the influence of early adiposity rebound, genetic polymorphisms and GnRHa treatment on long-term outcome of girls with idiopathic central precocious puberty.
- Trial name
- NCT02790112
- Testing
- GnRHas
- Where
- Belgium
- Volunteers
- 418 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
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