Clinical trials: Genetic Disorder
Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men
A Study to Learn How Different Levels of Decreased Liver Function Influence Blood Levels of Elinzanetant Compared to Normal Liver Function in Male and Female Participants
Researchers are looking for a better way to treat people who have symptoms caused by hormonal changes, like those that happen in women during menopause. These symptoms can include vasomotor symptoms.
- Trial name
- NCT04903821
- Testing
- BAY3427080
- Where
- 2 sites in Germany
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- Bayer
Indirect Inguinal Hernia, Genetic Predisposition to Disease
Gene Expression and DNA Variation Analysis of Sacs to Identify the Pathophysiology of Indirect Inguinal Hernia
The aim of the project is to show that gene expression levels change in at least one of the GATA6 and T-box transcription factor 3 (TBX3) genes in indirect inguinal hernia sacs, thus revealing that this pathway causes an error in…
- Trial name
- NCT04634032
- Testing
- mRNA expression and SNP analysis, Blood sampling
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Trakya University
Pain, Sickle Cell Disorder
Ketamine Infusion for Acute Sickle Cell Crisis in the Emergency Department
Pain associated with sickle cell disease is a common emergency department visit. It is also frequently associated with a high emergency department recidivism rate for pain control and admissions to the hospital.
- Trial name
- KISS (NCT02417298)
- Testing
- Normal saline, Ketamine
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Billy Sin
Generalized Aggressive Periodontitis, Chronic Periodontitis
Evaluation of Possible Genes in Periodontal Diseases by Genetic Methods
Generalized aggressive Periodontitis (GAgP) and chronic periodontitis (CP) are inflammatory diseases. Little is known about molecular changes and signaling cascade of host response.
- Trial name
- NCT04026828
- Testing
- Periodontitis Group
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Kocaeli University
Osteoporosis
Skeletal Health of Klinefelter Patients
This study compared the bone health of KS patients who were actively monitored in our clinic by dual-energy X-ray absorptiometry (DXA) with that of a control group of healthy volunteers.
- Trial name
- NCT03704987
- Testing
- dual-energy X-ray absorptiometry
- Where
- Turkey (Türkiye)
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- TC Erciyes University
Atopic Dermatitis
A Single-center, Randomized, Double-blinded, Placebo-controlled, Phase 1 Clinical Trial to Evaluate the Safety, Tolerability and Efficacy of NCP112
To evaluate safety, tolerability and pharmacokinetics of NCP 112 after single and multiple applications on the skin of healthy male volunteers.
- Trial name
- NCT05638165
- Testing
- NCP112
- Where
- South Korea
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- NovaCell Technology Inc.
Healthy
Naturally Produced Cannabinoids for Neuroprotection From Concussion
The goal of this double-blind, placebo-controlled, cross over study is to learn about the neuroprotective properties of a broad-spectrum cannabinoid formulation in normal healthy adults engaged in elite contact sport competition.
- Trial name
- NCT07715864
- Testing
- Broad spectrum cannabinoid formulation
- Where
- Canada
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Regina
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.
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
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