Clinical trials: Genetic
Endometrial Cancer
Practice Patterns Among Gynecologic Oncologists on Tumor Genetic Testing in Endometrial Cancer
In order to formulate strategies to improve adherence to best practice guidelines, as well as utilization of novel therapies, investigators must understand current practice patterns surrounding tumor genetic testing in…
- Trial name
- NCT05877404
- Testing
- Surveys
- Where
- United States
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Hyperlipemia, Carbohydrate Inducible
Milk as a Recovery Beverage After Exercise for Improving Metabolic Health
Fasting blood fat levels (triglycerides) are often used to assess risk of heart disease but the level of fats in the blood after a meal is actually a stronger risk factor.
- Trial name
- NCT03154216
- Testing
- Exercise, Drink
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Saskatchewan
Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies
A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
This will be a double blind, randomised, placebo controlled, single and multiple oral dose study conducted in 3 parts: Part A, Part B and Part C.
- Conditions
- Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies, MELAS Syndrome, Mitochondrial Myopathies
- Trial name
- NCT03888716
- Testing
- KL1333
- Where
- 2 sites in United Kingdom
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Abliva AB
Turner Syndrome, Infertility, Female
Turner Syndrome Minipuberty Study
Rationale: Due to accelerated germ cell loss, infertility is a major problem in girls with Turner syndrome (TS). Therefore, cryopreservation of ovarian tissue or oocytes before exhaustion of the ovarian reserve may preserve…
- Conditions
- Turner Syndrome, Infertility, Female, Premature Ovarian Failure, Gonadal Dysgenesis
- Trial name
- Minipuberty (NCT04189406)
- Testing
- Venapunction
- Where
- 13 sites in Denmark, Germany and 3 more
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center
Vitamin D Deficiency
Environmental & Genetic Influences on Vitamin D Status
The purpose of this study is to determine the effect of environmental and genetic influences on Vitamin D status.
- Trial name
- NCT01208636
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Creighton University
Cardiovascular Risk, Genetic Cardiovascular Risk
Novel Risk Prediction Approaches for the Primary Prevention of Cardiovascular Diseases in Italy: the CVRISK-IT Trial (CVRISK-IT)
The CVRISK-IT study aims to evaluate the health benefit of measuring genetic and imaging risk information in men and women considered at 'low-to-moderate' or 'high' risk of developing cardiovascular diseases (CVD) in a randomized…
- Trial name
- CVRISK-IT (NCT06832644)
- Testing
- Lifestyle Management
- Where
- 17 sites in Italy
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Ehlers-Danlos Syndrome, Multiple Sclerosis
Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI)
The investigators propose that evidence of chronic cerebrospinal venous insufficiency (CCSVI) may be evident in the vasculature of the fundus.
- Trial name
- NCT01356134
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Genetic Disease Investigators
MELAS Syndrome, Mitochondrial Respiratory Chain Deficiencies
Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers
The purpose of this First In Human study is to investigate the safety and tolerability of KL1333 after a single oral dose and to investigate the pharmacokinetic characteristics of KL1333 after a single oral dose.
- Trial name
- NCT03056209
- Testing
- KL1333 25 mg, KL1333 50 mg, KL1333 100 mg
- Where
- South Korea
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Yungjin Pharm. Co., Ltd.
Cancer
Engaging and Activating Cancer Survivors in Genetic Services Study
To address the gap in access to genetic services, this study will evaluate the effectiveness of an adapted model of remote delivery of genetic services to increase the uptake of recommended genetic assessment and testing in…
- Trial name
- ENGAGE (NCT04455698)
- Testing
- Remote Telegenetic Counseling by Phone, Remote Telegenetic Counseling by Videoconferencing, Usual Care Arm
- Where
- 3 sites in United States
- Volunteers
- 511 people, healthy volunteers welcome
- Sponsor
- University of Chicago
Laminopathy, Lamin A/C Gene Mutation
Subanalysis in Patients With CARDIoLAMinopathy Enrolled to REPORT-CCM Registry
Observational, retrospective registry with acute and chronic endpoints
- Conditions
- Laminopathy, Lamin A/C Gene Mutation, Heart Failure
- Trial name
- CARDILAM-CCM (NCT04904393)
- Testing
- Implant of the device for Cardiac Contractility Modulation (CCM) Therapy
- Where
- Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Monaldi Hospital
Congenital Heart Disease
Genetics of Congenital Heart Disease
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown.
- Trial name
- NCT01192048
- Testing
- Blood Sample Collection
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy
Wearable Technology to Assess Gait Function in SMA and DMD
The purpose of this project is to devise instrumented insoles capable of accurately measuring gait at each footfall, over multiple hours in any environment.
- Trial name
- NCT04193085
- Testing
- Observational
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- Columbia University
Amyotrophic Lateral Sclerosis
Studies in Amyotrophic Lateral Sclerosis (ALS) and Other Neurodegenerative Motor Neuron Disorders
The purpose of this study is to collect, from patients with sporadic and familial ALS and their family members, clinical data and blood samples for extraction of DNA, RNA, preparation of lymphocytes, plasma and serum to establish…
- Trial name
- NCT05474235
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Duchenne Muscular Dystrophy
Motor Imagery in Duchenne Muscular Dystrophy
Motor imagery (MI) can be defined as a dynamic process in which the person is mentally stimulated without performing the given motor movement.
- Trial name
- NCT05559710
- Where
- Turkey (Türkiye)
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Breast Carcinoma, Male Breast Carcinoma
Access to Genetic Testing in Underserved Patients With Cancer
This study compares the experiences of people who receive information about genetic testing from a computer-generated character to patients who receive information from a human genetics healthcare provider.
- Conditions
- Breast Carcinoma, Male Breast Carcinoma, Malignant Solid Neoplasm, Metastatic Prostate Carcinoma
- Trial name
- NCT06422455
- Testing
- Best Practice, Educational Intervention, Electronic Health Record Review
- Where
- 2 sites in United States
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- University of Southern California
Liver Transplantation
Association of Genetic Polymorphism and Acute Kidney Injury After Liver Transplantation
Some of the liver transplantation recipients experience postoperative acute kidney injury due to various causes including genetic factors.
- Trial name
- NCT02489474
- Where
- South Korea
- Volunteers
- 124 people, healthy volunteers welcome
- Sponsor
- Yonsei University
Genetic Health Risks
A Prospective, Monocentric Clinical Study for the Validation of in Vitro Diagnostic Tests Developed by Firalis
Firalis SA and its affiliate Amoneta Diagnostics SAS are developing novel in-vitro-diagnostic (IVD) tests for diverse diagnostic applications for major human diseases, including cardiovascular, and neurodegenerative disorders.
- Trial name
- ApoDiag (NCT06432192)
- Testing
- APO-Easy
- Where
- 2 sites in France
- Volunteers
- 1,474 people, healthy volunteers welcome
- Sponsor
- Firalis SA
Atopic Dermatitis, Type 1 Hypersensitivity
Allergic Disease Onset Prevention Study
This is a Phase 1b/2, randomized, double-blind, multi-center study to evaluate the safety, tolerability, and preliminary clinical efficacy of STMC-103H in neonates and infants at risk for developing allergic disease (Type 1…
- Trial name
- adored (NCT05003804)
- Testing
- STMC-103H
- Where
- 31 sites in United States, Australia and 1 more
- Volunteers
- 283 people, healthy volunteers welcome
- Sponsor
- Siolta Therapeutics, Inc.
Diabetes Mellitus, Healthy
Genetic Influence on Susceptibility to Type 1 Diabetes Mellitus
Type 1 diabetes mellitus is an autoimmune disease in which the body's immune cells attack the insulin-producing cells of the pancreas.
- Trial name
- NCT00001985
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Fabry's Disease
Analysis of the Nervous System in Patients With Fabry's Disease
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme ceramidetrihexosidase. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls…
- Trial name
- NCT00001491
- Where
- United States
- Volunteers
- 325 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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