Clinical trials: Genetic Testing, open to volunteers
Pancreatic Neuroendocrine Neoplasm
Genetic Predisposition Testing Program for Pancreatic Neuroendocrine Neoplasms
This is a prospective observational multi-center pilot study of germline testing for participants receiving care at University of California participating locations with a new or existing diagnosis of Pancreatic Neuroendocrine…
- Trial name
- PanNEN (NCT05746182)
- Testing
- Hereditary Cancer Panel
- Where
- 3 sites in United States
- Volunteers
- 300 people
- Sponsor
- University of California, San Francisco
Infertility, Female, Infertility, Male
Embryo Assessment Utilizing Timelapse Imaging in Conjunction With Preimplantation Genetic Testing for Aneuploidy With Next Generation Sequencing
The goal of this observational study is to discern if there is a relationship between timelapse imagery of human oocytes/embryos and PGT results.
- Conditions
- Infertility, Female, Infertility, Male, Infertility, IVF
- Trial name
- NCT06419127
- Testing
- Timelapse incubation and PGT
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Gattaca Genomics
Long Anterior Zonules
Morphological-Gene-Clinical Phenotype Correlation Study of the Long Anterior Zonule
Long anterior zonules (LAZ) is an anatomical anomaly of the anterior segment in which zonular fibers extend abnormally forward onto the anterior lens capsule.
- Trial name
- NCT07549711
- Testing
- Control, Long anterior zonules, LAZ Pedigree
- Where
- China
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Fuzhou Eye Hospital
High Myopia, Cataract
Shanghai High Myopia Study
The purpose of this study is to evaluate the long-term visual outcome of the cataract surgery using a large-scale and comprehensive database of high myopic cataract and age-related cataract patients.
- Conditions
- High Myopia, Cataract, Visual Outcome, Genetic Anticipation
- Trial name
- NCT03062085
- Testing
- Cataract
- Where
- China
- Volunteers
- 60,000 people
- Sponsor
- Shanghai High Myopia Study Group
Spinal Amyotrophy, Infantile Spinal Muscular Atrophy
Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the degeneration of motor neurons in the anterior horn of the spinal cord, due to the absence of the SMN1 gene and the resulting lack of SMN…
- Conditions
- Spinal Amyotrophy, Infantile Spinal Muscular Atrophy, Juvenile Spinal Muscular Atrophy
- Trial name
- FANTASI-SMART (NCT06562283)
- Testing
- Thumb test, Grip test, Quadriceps Intermittent Fatigue test (QIF test))
- Where
- 4 sites in France
- Volunteers
- 80 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Breast Cancer, Ovarian Cancer
EHR Intervention to Increase HBOC Genetic Testing
The purpose of this research study is to test how well a new approach - using tools built into the electronic health record (EHR)- can help increase genetic testing for hereditary breast and ovarian cancer (HBOC) in women who…
- Conditions
- Breast Cancer, Ovarian Cancer, Hereditary Cancer Syndrome
- Trial name
- ELISABETH (NCT07876349)
- Testing
- ELISABETH Evidence-Informed Program (EIP)
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- Columbia University
Cystic Fibrosis
Evaluation of New Device for Beta-adrenergic Sweat Test in the Context of Stratification of Patient With Cystic Fibrosis
This is a clinical study to evaluate a new medical system used to perform a sweat secretion-based test for the diagnosis of cystic fibrosis.
- Trial name
- BESTRACYFIC (NCT06836453)
- Testing
- Sweat stimulation and secretion quantification
- Where
- Belgium
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Rare Kidney Stone Diseases
Monogenic Kidney Stone - Genetic Testing
This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease.
- Trial name
- NCT03305835
- Where
- United States
- Volunteers
- 6,000 people
- Sponsor
- Mayo Clinic
Infertility, Female, Infertility, Male
Cell Free Preimplantation Genetic Testing
This study aims to develop preimplantation genetic testing methods from embryo culture media (cell free). Genetic testing of culture media will be compared to conventional methods based on embryo biopsies.
- Trial name
- NCT04628507
- Testing
- Spent media collection
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Genomic Prediction Inc.
Solid Tumor, Adult
A Pilot Study of Genetic Testing Uptake Through Enhanced Oncology Nurse-Led Intervention
Genetic factors are a significant determinant of the likelihood of developing various types of cancers. Identification of germline risk can have important implications for both patients and their families.
- Trial name
- GENESIS (NCT06436157)
- Testing
- Enhanced education, Usual care education
- Where
- 2 sites in United States
- Volunteers
- 60 people
- Sponsor
- University of California, Davis
Infertility, Female
Preimplantation Genetic Testing in Women of Advanced Maternal Age
The GETSET trial is a prospective randomized trial designed to evaluate the clinical outcomes of incorporating preimplantation genetic testing for aneuploidies (PGT-A) in elective single embryo transfer in women between 35 and 40…
- Trial name
- GETSET (NCT04167748)
- Testing
- Preimplantation genetic testing for aneuploidy (PGT-A)
- Where
- United States
- Volunteers
- 240 people
- Sponsor
- Genomic Prediction Inc.
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
Obesity and Obesity-related Medical Conditions, Diabetes
Routine Validation and Reproducibility Testing of Laboratory Assays and Research Techniques Used for Endocrine, Cardiometabolic, and Musculoskeletal Disorder Research (VALD)
The purpose of this research study is to validate (check the accuracy of) laboratory assays, intravenous catheter insertion, and equipment or devices and their reproducibility, which is necessary to perform high quality research…
- Conditions
- Obesity and Obesity-related Medical Conditions, Diabetes, Atherosclerotic Disease, Heart Failure
- Trial name
- VALD (NCT07083557)
- Testing
- Endothelial cell collection
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Bettina Mittendorfer
Amyotrophic Lateral Sclerosis
The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study
Pre-fALS is a prospective natural history and biomarker study of people not yet affected with ALS, but who are at genetic risk for developing ALS.
- Trial name
- Pre-fALS (NCT00317616)
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- University of Miami
Alzheimer Disease
Late Onset Alzheimer's Disease
The goal of this study is to is to focus on the genetic influences on Alzheimer's Disease (AD) risk. The investigators are looking for families and/or individuals (affected or unaffected) of any ethic background (African…
- Trial name
- LOAD (NCT05010603)
- Testing
- Blood Draw, Late Onset Alzheimer's Disease (LOAD) Neuropsychological Battery Test
- Where
- 12 sites in United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Primary Ciliary Dyskinesia
Use of Nasal Nitric Oxide Testing in Improving Primary Ciliary Dyskinesia Clinical Care
this study is aiming at learning more about primary ciliary dyskinesia (PCD) and tests that are used to diagnose this condition.
- Trial name
- NCT05287022
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Arkansas Children's Hospital Research Institute
Alpha-1 Antitrypsin Deficiency
The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study
The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.
- Trial name
- ACT (NCT00500123)
- Testing
- Alpha-1 Antitrypsin Genotype
- Where
- United States
- Volunteers
- 50,000 people, healthy volunteers welcome
- Sponsor
- University of Florida
ALS
Amyotrophic Lateral Sclerosis (ALS) Families Project
This program provides family members of individuals with familial ALS the opportunity to contribute to research focused on learning more about why motor neuron degeneration begins and how or why it progresses.
- Trial name
- NCT03865420
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Columbia University
Down Syndrome (DS)
Suspension Therapy Effects on Mobility and Balance in Down Syndrome
Down syndrome (DS) is one of the most common congenital disorders. Individuals with Down syndrome present with several impairments such as hypotonia, ligament laxity, decreased muscle strength, insufficient muscular…
- Trial name
- STOMP (NCT06748248)
- Testing
- suspension Therapy, Routine Treatment
- Where
- 2 sites in Pakistan
- Volunteers
- 26 people
- Sponsor
- Riphah International University
Leiomyosarcoma
Beliefs, Attitudes, and Response to Genetic Testing in SarcomaPatients
Genomic research has shown that a portion of leiomyosarcomas can be attributed to an underlying cancer predisposition syndrome. However, the optimal approach for incorporating germline testing into the care of these patients.
- Trial name
- NCT06875700
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University of Utah