Clinical trials: Genetic Testing
ADPKD, Pain
Somatosensory Phenotyping of ADPKD
Over 60% of patients with ADPKD suffer from pain, mostly in the abdomen, flank and back, often leading to the diagnosis. It is challenging to manage and cure the pain; approximately 39% of patients are not satisfied with their…
- Trial name
- NCT06970028
- Testing
- Quantitative Sensory Testing, Questionnaires regarding pain and quality of life
- Where
- Belgium
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Emphysema, Chronic Obstructive Pulmonary Disease
Emphysema Research Registry and Biosample Repository
The Comprehensive Lung Center (CLC) at the University of Pittsburgh Medical Center (UPMC Health System) provides patients with any type of breathing or lung disorder a full range of diagnostic and therapeutic services.
- Conditions
- Emphysema, Chronic Obstructive Pulmonary Disease, Chronic Bronchitis
- Trial name
- NCT00307281
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Sickle Cell Disease
Evaluation of the Hemostatic Potential in Sickle Cell Disease Patients
Sickle cell disease is a genetic disorder caused by a point mutation on the amino acid sequence of the β chain of hemoglobin. The most expressive and most frequent complication of the disease is vaso-occlusive crisis, dominated…
- Trial name
- NCT02565082
- Testing
- Blood sampling - healthy volunteers, Blood sampling - sickle cell patients arm - stable condition, Blood sampling - sickle cell patients arm- exsanguinotransfusion needed
- Where
- Belgium
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Brugmann University Hospital
Quality of Life
Impact of Different Carbohydrate Feedings on a Hydrogen Breath Curve and Self-reported Gastrointestinal Complaints
GI distress is widely prevalent among athletes, ranging from 30 to 90% in recreationally and professionally active athletes. As the recipient of nutrients, the gastrointestinal (GI) tract plays an important role in athleticism.
- Trial name
- NCT06648967
- Testing
- Supplementation with a multi-ingredient whey supplement
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Arizona State University
Trisomy 13, Trisomy 18
Multiple Gestation Study
The objectives of the clinical study are to demonstrate the accuracy of our new NATUS diagnostic method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample.
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
- Trial name
- NCT02278536
- Where
- 8 sites in United States, India and 1 more
- Volunteers
- 354 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Obesity
Genetic Analysis of Childhood Obesity
Identify news genetic causes of different type of obesity (syndromic, familial or isolated obesity) by highlighting new mutations or new implied genes
- Trial name
- OSV (NCT02326480)
- Testing
- Identification of genetic causes of obesity
- Where
- France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Lille Catholic University
Intellectual Disability, Neurodevelopmental Disorders
Physical Activity and Community EmPOWERment Project
Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease…
- Conditions
- Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome
- Trial name
- PACE (NCT06740162)
- Testing
- PACE Program
- Where
- 2 sites in United States
- Volunteers
- 376 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Arrhythmic Right Ventricular Cardiomyopathy
Isoproterenol Challenge to Detect Arrhythmogenic Right Ventricular Cardiomyopathy
This study will examine the usefulness of a new test called an isoproterenol challenge in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and family members who may have the disease but do not have clear-cut…
- Trial name
- NCT00083395
- Where
- United States
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- National Institutes of Health Clinical Center (CC)
Cystic Fibrosis
Pilocarpine Microneedles for Sweat Induction (PMN-SI)
The investigators want to test in this non-randomized clinical trial a new method of administrating Pilocarpine medicine into the skin during the Sweat testing process that does not use any electrical current.
- Trial name
- NCT04732195
- Testing
- Pilocarpine microneedle patch, Pilocarpine Iontophoresis
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Emory University
Acute Bacterial Infections, Acute Viral Infections
300 Antibody Diagnostic Test Kit
For the development of a Point of Care IVD test kit for acute phase disease detection against a variety of bacterial and viral infections.
- Trial name
- Antibody 300 (NCT01646411)
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- The Plasma Source
Screening, Aortic Aneurysm and Dissection
A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases
The primary hypothesis is that a tailored programme of genetic and imaging screening of first- and second-degree relatives of patients affected by non-syndromic forms of thoracic aortic diseases will identify individuals at risk…
- Conditions
- Screening, Aortic Aneurysm and Dissection, Genetic Disease
- Trial name
- ReST (NCT03861741)
- Testing
- WES, MRI, TTE
- Where
- United Kingdom
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Leicester
Keratoconus, Ectasia
A Study to Test the Diagnostic Potential of Brillouin Microscopy for Corneal Ectasia
We have developed novel Brillouin microscopy and we are testing its potential for keratoconus and ectasia diagnostics. We plan to perform axial scans of the cornea in human volunteers in order to compare biomechanical properties…
- Conditions
- Keratoconus, Ectasia, Crosslinking, Fuchs' Endothelial Dystrophy
- Trial name
- NCT02118922
- Testing
- Brillouin imaging
- Where
- United States
- Volunteers
- 168 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Infertility
Preimplantation Genetic Screening in IVF Treatment
This is the pilot phase of a randomised controlled trial. The purpose of the pilot study is to assess the ability to recruit, randomise, adherence to the study protocol and plan for a full study.
- Trial name
- PGSINIVF (NCT05009745)
- Testing
- PGT-A Strategy
- Where
- United Kingdom
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- King's College London
Cystic Fibrosis
Whole Body Vibration - a New Therapeutic Approach to Improve Muscle Function in CF
The purpose of this study is to evaluate the effects of whole body vibration (WBV) on muscle function in adult CF-patients.
- Trial name
- NCT00388466
- Testing
- GALILEO
- Where
- Germany
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Cologne
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Hereditary Diseases
Development of New Prenatal Diagnostic Tests From Maternal Blood
After extraction of the cell-free DNA circulating in maternal plasma, we aim at developing new techniques for fetal DNA enrichment to perform fetal gender determination, and indirect diagnosis of inherited diseases like Cystic…
- Trial name
- NCT00314691
- Testing
- Blood samples
- Where
- France
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
BRCA1 Mutation, POLD1 Gene Mutation
An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team.
- Conditions
- BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation, BRCA2 Mutation
- Trial name
- NCT05420064
- Testing
- Intervention Arm At-risk Relative/ARR Contacts, MyGene Portal, Standard of Care
- Where
- 8 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Hernia
Collagen Analysis and Genetic Analysis of Families With Tendency to Hernias
Analysis of collagen subtype subcutaneously and genetic analysis of patients from families with a tendency to hernias. Furthermore circulating biomarkers and biomarkers extracted from the subcutaneously tissue such as MMP's…
- Trial name
- NCT00991484
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Herlev Hospital
Interstitial Lung Diseases of Childhood, Genetic Testing
Genetic Causes and Clinical Features of Childhood Interstitial Lung Diseases in China
Recruitment of a carefully characterized cohort of chILD patients, to generate a database and biobank via collecting data on chILD in China.
- Trial name
- NCT03869515
- Testing
- No intervention
- Where
- China
- Volunteers
- 271 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Fudan University
Lung Cancer
DNA Analysis of Blood and Tissue From Patients With Lung Cancer
RATIONALE: Studying samples of blood and tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT00471978
- Where
- 2 sites in United States
- Volunteers
- 15,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital