Clinical trials: Genetic Testing
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
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
Spinal Muscular Atrophy, Neonatal Hyperbilirubinemia
Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.
In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal…
- Conditions
- Spinal Muscular Atrophy, Neonatal Hyperbilirubinemia, Colon Cancer
- Trial name
- NCT00154960
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Hip Fracture of Intertrochanteric Type, Thromboembolic Event
Diffrence in Thromboprofilaksis in Elderly Ostoepenic Hip Fractures According to Mobility Status by Genetic Analysis
Hip fracture is a common and severe disease in elderly patients. The question of the study is whether elderly patients with severe osteopenia have significantly lower levels of the collagen-binding protein Hsp47 than relatively…
- Conditions
- Hip Fracture of Intertrochanteric Type, Thromboembolic Event, Osteopenia, Thrombosis Embolism
- Trial name
- HSP 47 (NCT06959017)
- Testing
- Gene Expression Analysis
- Where
- Turkey (Türkiye)
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Saglik Bilimleri Universitesi
Macular Degeneration, Geographic Atrophy
A Prospective Observational Study to Assess the Reliability and Validity of the MLSDT
The goal of this observational study is to assess the reliability and validity of the 9-object MLSDT for evaluation of participants with moderate to severe vision impairment when tested without a wearable low-vision magnifying…
- Conditions
- Macular Degeneration, Geographic Atrophy, Stargardt Disease
- Trial name
- NCT06805474
- Testing
- Observational
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Nanoscope Therapeutics Inc.
Indeterminate Thyroid Cytology
Validation of a Multi-Genetic Test for the Diagnosis of Indeterminate Thyroid Nodules
A clinical trial is proposed, to clinically validate the diagnostic performance of a new genetic test developed in Chile. It will determine the nature of thyroid nodules that have been informed as indeterminate by cytology…
- Trial name
- CT-DS (NCT03061318)
- Where
- 9 sites in Chile
- Volunteers
- 3,100 people, healthy volunteers welcome
- Sponsor
- Hernán González
Breast Cancer, Ovarian Cancer
Attitudes About Childbearing And Fertility With Inherited Breast And Ovarian Cancer Syndromes (HBOC)
Objectives: To evaluate the attitudes and opinions of women undergoing genetic counseling for hereditary breast and ovarian cancer syndrome, both before and after testing, in regards to pregnancy and fertility Hypothesis…
- Trial name
- NCT00829959
- Testing
- Questionnaire
- Where
- United States
- Volunteers
- 156 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Diabetes
Regulation of Hepatic Insulin Extraction
This study is in the area of Type 2 diabetes and genetics Healthy Volunteers and those with mild type 2 diabetes may be eligible to participate This study is searching for genes that may affect the body's processing/digestion of…
- Trial name
- RHIE (NCT00811044)
- Volunteers
- healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Pompe Disease
Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
This study intends to evaluate dynamic respiratory motor performance as a valuable measure of pulmonary function in adults with late-onset Pompe disease.
- Trial name
- DRMF (NCT02354664)
- Testing
- Thoracic MRI, Spirometry, Inspiratory Load Compensation
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- University of Florida
Glucose-6 Phosphate Dehydrogenase Deficiency
Comparing G6PD Tests Using Capillary Blood Versus Venous Blood
In this study we propose to determine the correlation in glucose-6phosphate dehydrogenase enzyme activity in capillary blood obtained from a finger stick versus a venous blood specimen.
- Trial name
- NCT02069236
- Testing
- G6PD Test
- Where
- Thailand
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- PATH
Prostatitis
Etiology Study of Prostatitis
Prostatitis is so widespread a disease that affects people from youths to seniors, with approximately a third experiencing a remission of symptoms over a year follow-up.
- Trial name
- NCT01932645
- Where
- Canada
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Metabolic Syndrome, Diabetes Mellitus, Type 2
Assessing Inherited Markers of Metabolic Syndrome in the Young
The AIMM Young study is a collaboration between Children's National Medical Center (CNMC) and colleges/universities nationwide--currently including Howard University (HU), East Carolina University (ECU), and University of…
- Conditions
- Metabolic Syndrome, Diabetes Mellitus, Type 2, Obesity
- Trial name
- AIMMY (NCT00966407)
- Where
- United States
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- Eric Hoffman
Short Stature
The Role of Igf-1 Generation Test in Diagnosis and Treatment of Short Stature
The purpose of the study is to evaluate the predictive value of IGF-1 generation test for growth velocity during GH treatment for 12 months.
- Trial name
- NCT01970800
- Testing
- Growth Hormone
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Maimonides Medical Center
Hiv
Engaging Men Through HIV Self-Testing With Differentiated Care to Improve ART Initiation and Viral Suppression Among Men in Malawi
Men in sub-Saharan Africa who test HIV-positive continue to have poor ART initiation and retention outcomes. The proposed project will test a home-based ART intervention for men who are living with HIV compared to facility-based…
- Trial name
- NCT04858243
- Testing
- Home-Based ART, Facility-Based ART
- Where
- Malawi
- Volunteers
- 930 people, healthy volunteers welcome
- Sponsor
- University of California, Los Angeles
Prostate Cancer, Prostate Neoplasm
Early and Accurate Detection of Prostate Cancer in General Practice
Prostate cancer (PC) is the most common malignancy (4500 new cases/year) and the second leading cause of cancer-associated mortality (1200 deaths/year) among men in Denmark.
- Conditions
- Prostate Cancer, Prostate Neoplasm, Prostate Adenocarcinoma
- Trial name
- NCT03431753
- Testing
- PSA, STHLM3 and mpMRI for PC detection
- Where
- Denmark
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Aarhus University Hospital
Human Immunodeficiency Virus, Acquired Immunodeficiency Syndrome
Self-Test Strategies and Linkage Incentives to Improve ART and PrEP Uptake in Men
This is a randomized controlled trial to test a combination behavioral and biomedical interventions to improve the HIV prevention and care cascades in a population of mobile men in a high priority setting (fishermen in Kenya).
- Conditions
- Human Immunodeficiency Virus, Acquired Immunodeficiency Syndrome, HIV Infections, Sexually Transmitted Diseases, Viral
- Trial name
- NCT04772469
- Testing
- Provision of multiple self-tests, Small monetary incentives, Use of SMS/text reminders to motivate adherence to ART or PrEP
- Where
- Kenya
- Volunteers
- 934 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Primary Ciliary Dyskinesia (PCD)
Comparison of Individuals With Primary Ciliary Dyskinesia and Healthy Controls
To date, the literature has not yet elucidated the status of malnutrition and sarcopenia in children and adolescents with PCD compared to healthy controls.
- Trial name
- NCT07740551
- Testing
- Physical Evaluations in Children with Primary Ciliary Dyskinesia, Physical Evaluations in Healthy Children
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Izmir Democracy University
Friedreich Ataxia
Digital Outcome Assessment Using AI Active Gaming and Motion Capture in Friedreich Ataxia
Friedreich ataxia (FA) is a rare, inherited condition that progressively affects balance, coordination, and walking. Clinical trials of new FA treatments rely largely on standard clinical rating scales, but these can be tiring…
- Trial name
- STEP-OUT FA (NCT07731971)
- Testing
- Laboratory validation session (VSimulator), Home-based active gaming assessment
- Where
- United Kingdom
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Autonomic Nervous System Disease, Healthy
Blood Sampling for Neurochemical and Genetic Testing
This study involves sampling blood from both normal volunteers and patients with diseases known or suspected to involve body chemicals called catecholamines.
- Conditions
- Autonomic Nervous System Disease, Healthy, Hypertension, Pheochromocytoma
- Trial name
- NCT00001147
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Dyslipidemia
Effect of Diet on Men and Women With Genetic Alterations Associated With Abnormal Blood Tests
The purpose of this study is to evaluate different diets and the effects of blood measures or inflammation and endothelial function in association with genetics tending to abnormal blood test levels.
- Trial name
- NCT00108212
- Testing
- Diet
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- US Department of Veterans Affairs