Clinical trials: Genetic Conditions
Fabry Disease
Androgenetic Alopecia in Fabry Disease
The purpose of this study is to assess whether patients with the classic form of Fabry disease have significantly less androgenic alopecia (male pattern baldness).
- Trial name
- NCT01295008
- Where
- United States
- Volunteers
- 107 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
Obesity
Dietary, Physiological, Genetic, and Behavioral Predictors of Health in a Young, Ethnically-Mixed Population
Dietary intervention and other strategies to prevent unhealthy weight gain and the development of obesity should be based on knowledge of dietary, physiological, genetic and behavioral determinants and their contributing…
- Trial name
- InSight (NCT00945633)
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Pennington Biomedical Research Center
Chronic Obstructive Pulmonary Disease, COPD
Incorporation of Genetic Expression of Airway Epithelium With CT Screening for Lung Cancer
Lung cancer, largely the result of cigarette smoking, is the leading cause of cancer death in the United States, killing over 160,000 people in 2010, more than breast, colorectal, and prostate cancer combined.
- Trial name
- NCT01982149
- Testing
- Group 1, Group 2, Group 3
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Healthy Subjects
A Study to Demonstrate Bioequivalence Between a 12-mg Dose of an Oral Suspension Formulation of Perampanel and a 12-mg Tablet Formulation of Perampanel Under Fasted and Fed Conditions in Healthy Subjects
This is an open-label, 2-arm, single-dose, randomized crossover study. The study will enroll a total of 100 subjects (2 arms with 50 subjects in each arm).
- Trial name
- NCT02279485
- Testing
- Perampanel
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Eisai Inc.
Trisomy 21, Trisomy 18
Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a…
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
- Trial name
- MAPS (NCT01852708)
- Where
- 9 sites in United States, Spain and 1 more
- Volunteers
- 1,059 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Pancreas Cancer, Pancreatic Ductal Adenocarcinoma
Clinical Performance of Medical Device Software "Lipidica 1.0" for Processing Data Generated by Lipidomic Analysis in Pancreatic Cancer Screening
Software "Lipidica" is intended to be used for processing data generated by the in-house in vitro diagnostic medical device for lipidomic testing for the purpose of screening Pancreatic cancer (PaC) in the population at high risk…
- Conditions
- Pancreas Cancer, Pancreatic Ductal Adenocarcinoma, Hereditary Diseases, Pancreatitis, Chronic
- Trial name
- NCT06549725
- Testing
- software Lipidica, endoscopic ultrasonography, magnetic resonance
- Where
- 16 sites in Czechia
- Volunteers
- 419 people, healthy volunteers welcome
- Sponsor
- Lipidica, a.s.
Skin Laxity, Wrinkle
Clinical Feasibility Study to Evaluate the Safety and Performance of the Profound Matrix System
This is a non-randomized, multi-center, open-label clinical trial evaluating clinical feasibility treatments with the Profound Matrix system.
- Conditions
- Skin Laxity, Wrinkle, Skin Condition
- Trial name
- NCT06157567
- Testing
- Profound Matrix
- Where
- 6 sites in United States, Canada and 1 more
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Candela Corporation
Asthma, COPD
Acoustic Waveform Respiratory Evaluation
The study will evaluate the feasibility of using smartphone speakers and microphones to evaluate the caliber of the airways, detect airway obstruction, aid in airway disease diagnosis, and identify disease exacerbations.
- Conditions
- Asthma, COPD, Cystic Fibrosis, Ciliary Motility Disorders
- Trial name
- AWARE (NCT06512064)
- Testing
- AWARE
- Where
- 2 sites in United States
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- Indiana University
Hearing Loss, Late-Onset Hearing Loss
Genetic Testing in Detection of Late-Onset Hearing Loss
Two major limitations of existing audiometric newborn hearing screening programs are their inability to detect forms of deafness that are not expressed at birth and the low compliance with obtaining recommended audiologic…
- Conditions
- Hearing Loss, Late-Onset Hearing Loss, Deafness
- Trial name
- SoundGene (NCT00511381)
- Testing
- No intervention
- Where
- 3 sites in United States
- Volunteers
- 3,681 people, healthy volunteers welcome
- Sponsor
- Pediatrix
Obesity, Diabetes
Role of Nutrition and Maternal Genetics on the Programming of Development of Fetal Adipose Tissue
In the PREOBE projects it is aimed to obtain genetic and biochemical biomarkers for the programming of obesity in early stages of life.
- Trial name
- PREOBE (NCT01634464)
- Where
- Spain
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Universidad de Granada
Females Undergoing PGD Technology for Medical Conditions
Isolation of Cell Free Fetal DNA From Spent Culture Medium and Its Potential Role for Preimplantation Genetic Diagnosis (PGD).
Preimplantation genetic testing for chromosomal screening is, at present, the most reliable method to assess the genetic status of preimplantation embryos.
- Trial name
- NCT06084377
- Testing
- Preimplantation Genetic Screening
- Where
- Syria
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Damascus University
Diastolic Dysfunction, Neonatal Encephalopathy
Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography
The goal of this single-centre longitudinal observational study is to create reference values for diastolic function parameters in neonates born at 35 weeks' gestation or above, and to assess the influence of pre-defined…
- Conditions
- Diastolic Dysfunction, Neonatal Encephalopathy, Small for Gestational Age at Delivery, Transient Tachypnea of the Newborn
- Trial name
- DiFuSE (NCT06200519)
- Where
- Ireland
- Volunteers
- 216 people, healthy volunteers welcome
- Sponsor
- University College Cork
Cardiovascular Disease, Hyperhomocysteinemia
Prevalence Of Hyperhomocysteinemia In Thai Chronic Kidney Disease (CKD) Patients
It is well recognized that patients with chronic kidney disease (CKD) have an increased risk for cardiovascular disease (CVD) and hyperhomocysteinemia appears to be a predictor of future CVD events.
- Trial name
- NCT01391416
- Volunteers
- 98 people, healthy volunteers welcome
- Sponsor
- Bangkok Metropolitan Administration Medical College and Vajira Hospital
Laxity; Skin
Evaluate the Safety and Efficacy of a Topical Serum (AGE Serum) in Improving Visible Signs of Aging
The primary objective is to evaluate the safety and efficacy of a topical serum (AGE serum) in improving visible signs of aging (e.g., fine lines, wrinkles, sagging, texture, radiance) on the full face and neck.The study will be…
- Trial name
- NCT07216352
- Testing
- AGE Serum
- Where
- United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Goldman, Butterwick, Fitzpatrick and Groff
Nephrotic Syndrome Steroid-Dependent, Nephrotic Syndrome Steroid-Resistant
Biomarkers and Outcome Predictors of Pediatric Nephrotic Syndrome: A Genetic, Transcriptomic, and Secretome Multiomics Study
Idiopathic Nephrotic Syndrome is a rare disease of the kidneys, which typically affects children. For most affected children there is the need of a prolonged treatment with drugs reducing the activity of the immune system, also…
- Conditions
- Nephrotic Syndrome Steroid-Dependent, Nephrotic Syndrome Steroid-Resistant, Nephrotic Syndrome in Children, Glomerulonephritis
- Trial name
- PRECISE (NCT06792448)
- Volunteers
- 350 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Alpha-1 Antitrypsin Deficiency, AAT Deficiency
Lung Disease and Its Affect on the Work of White Blood Cells in the Lungs
The purpose of this study is to look at how Alpha-1-antitrypsin (AAT) deficiency and Cystic Fibrosis (CF) affect white blood cells in the lungs, called macrophages, and their ability to work.
- Conditions
- Alpha-1 Antitrypsin Deficiency, AAT Deficiency, AATD, Cystic Fibrosis (CF)
- Trial name
- NCT01851642
- Testing
- History and physical exam., Blood draw., Pulmonary function testing.
- Where
- United States
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- University of Florida
Diabetic Nephropathy, Diabetes Mellitus
Family Investigation of Nephropathy and Diabetes (F.I.N.D.)
The Family Investigation of Nephropathy and Diabetes (FIND) is a multicenter study designed to identify genetic determinants of diabetic kidney disease.
- Conditions
- Diabetic Nephropathy, Diabetes Mellitus, Diabetic Kidney Disease, Albuminuria
- Trial name
- NCT00342927
- Where
- United States
- Volunteers
- 9,084 people, healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
HIV Infections, Sexually Transmitted Infections
HIV Prevention Program for African American Teen Males
The purpose of this study is to test if sexual health interventions can reduce the incidence of STIs among African American teens (15 to 21 years old).
- Trial name
- NCT00849823
- Testing
- Male Sexual Health Program, Focus on the Future Program
- Where
- United States
- Volunteers
- 840 people, healthy volunteers welcome
- Sponsor
- Richard Crosby
Aneuploidy, Birth Defect
Use of Videos to Improve Patient Knowledge on Prenatal Genetics
This is a randomized controlled trial of a low income and low health literacy population of pregnant women from a diverse racial and ethnic background to assess the effectiveness of a pre-visit educational video on prenatal…
- Trial name
- VPE (NCT03816423)
- Testing
- video
- Where
- United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- University of South Florida
Congenital Diaphragmatic Hernia, Congenital Diaphragmatic Eventration
Genetic Analysis of Congenital Diaphragmatic Disorders
The purpose of this study is to understand the genetic causes of congenital diaphragmatic disorders (CDD), namely congenital diaphragmatic hernia (CDH), eventration and hiatal hernia. Specifically, the investigators plan to: 1.
- Conditions
- Congenital Diaphragmatic Hernia, Congenital Diaphragmatic Eventration, Congenital Hiatal Hernia, Congenital Diaphragmatic Disorders
- Trial name
- NCT01243229
- Where
- 2 sites in United States
- Volunteers
- 305 people, healthy volunteers welcome
- Sponsor
- University of Utah
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