Clinical trials: Genetic Conditions
Orphan Cholestatic Liver Diseases, Progressive Familial Intrahepatic Cholestasis
An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects
The primary objectives of the study are to assess the mass balance recovery after a single dose of carbon-14 [14C]-A4250 as a capsule and to provide plasma, urine and faecal samples for metabolite profiling and structural…
- Conditions
- Orphan Cholestatic Liver Diseases, Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome, Primary Biliary Cirrhosis
- Trial name
- NCT03082937
- Testing
- 3 mg [14C]-A4250 capsule
- Where
- United Kingdom
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Albireo
Mild Cognitive Impairment (MCI), Alzheimer Dementia (AD)
Predicting Pre-dementia
The goal of this observational study is to learn how well a multimodal "Progression and Risk" (PR) model can predict and stage early mild cognitive impairment (MCI) due to Alzheimer's disease in cognitively normal or very mildly…
- Conditions
- Mild Cognitive Impairment (MCI), Alzheimer Dementia (AD), Alzheimer Disease (AD), APOE-4 Positive
- Trial name
- NCT07516119
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Prevention Research Consortium Corp.
Human Immunodeficiency Virus (HIV), Sexually Transmitted Disease (STD)
Steering Together in a New Direction: Reducing the Risk of HIV/STD Among African American Men
African American men have by far the highest rates of HIV in the US, but there are few randomized controlled trials (RCTs) of interventions to dissuade heterosexually active African American men from engaging sexual risk…
- Trial name
- STAND (NCT02572401)
- Testing
- STAND HIV Risk Reduction Intervention, Text Messaging Intervention
- Where
- United States
- Volunteers
- 391 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Newborn, Hereditary Disease
The China Neonatal Genomes Project
The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic…
- Conditions
- Newborn, Hereditary Disease, Genetic Predisposition to Disease, Defect, Congenital
- Trial name
- CNGP (NCT03931707)
- Testing
- Genomic sequencing
- Where
- China
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Fudan University
Hemophilia A, Hemophilia A, Severe
Hemophilia A Research Program
This study longitudinally observes the intergenerational (mother-child) continuum in hemophilia A from pregnancy through early childhood.
- Conditions
- Hemophilia A, Hemophilia A, Severe, Factor VIII (FVIII), FVIII Deficiency
- Trial name
- HARP (NCT07414511)
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Washington
Long QT Syndrome
Long QT Syndrome Screening in Newborns
The purpose of this project is to test a new, very compact, 12-lead ECG device as a way to detect long QT syndrome (LQTS) in infants. The device -- called QTScreen -- was developed in Phase I of this project.
- Trial name
- NCT02412709
- Testing
- QTScreen ECG Recorder
- Where
- 3 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- QT Medical, Inc.
Colonoscopy, Polyp of Colon
Does the Cap Increase the Finding of Polyps When Water Exchange Colonoscopy is Used
This is a study to compare two different, but normally, used methods of colonoscopy in patients that require a routine or repeat colonoscopy.
- Trial name
- ASGE (NCT03566615)
- Testing
- CAP-straight, CAP-daisy, water
- Where
- 7 sites in United States, China and 2 more
- Volunteers
- 1,630 people, healthy volunteers welcome
- Sponsor
- VA Greater Los Angeles Healthcare System
Malaria, Glucose 6 Phosphate Dehydrogenase Deficiency
Metabolism and Pharmacokinetics of Primaquine Enantiomers in Human Volunteers Receiving a Seven Day Dose Regimen
To investigate the comparative tolerability, metabolism and pharmacokinetics of individual enantiomers of PQ in healthy human volunteers, receiving study drug over the course of 7 days.
- Trial name
- NCT03934450
- Testing
- RPQ, SPQ, Primaquine Phosphate
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University of Mississippi, Oxford
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.
Mental Retardation, Developmental Disabilities
Healthy Lifestyles for People With Intellectual Disabilities
Relatively few health promotion and disease prevention programs have included or targeted people with disabilities, and even fewer have focused on individuals with intellectual disabilities.
- Conditions
- Mental Retardation, Developmental Disabilities, Intellectual Disabilities
- Trial name
- HLID (NCT00597948)
- Testing
- Healthy Lifestyles Curriculum
- Where
- United States
- Volunteers
- 131 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Musculoskeletal Diseases, Genetic Disease
Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)
This study aimed to translate the Affordance in the Home Environment for Motor Development -Toddler (AHEMD-T) into Turkish and examine its psychometric properties.
- Conditions
- Musculoskeletal Diseases, Genetic Disease, Metabolic Disease, Delays Developmental
- Trial name
- NCT04556500
- Testing
- investigating the psychometric properties of Turkish Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)
- Where
- Turkey (Türkiye)
- Volunteers
- 139 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Chronic Kidney Disease(CKD), Genetic Kidney Disease
Genomic First Testing in Chronic Kidney Disease
This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program…
- Trial name
- NCT06794567
- Testing
- Genetic Testing
- Where
- Canada
- Volunteers
- 2,400 people, healthy volunteers welcome
- Sponsor
- Dervla Connaughton
Diabetes Mellitus, Type 2, PreDiabetes
Blood Markers of Early Pancreas Cancer
Identifying biomarkers of early pancreatic ductal adenocarcinoma (PDAC) could facilitate screening for individuals at higher than average risk and expedite the diagnosis in individuals with symptoms and substantially improve an…
- Conditions
- Diabetes Mellitus, Type 2, PreDiabetes, Pancreas Cyst, Chronic Pancreatitis
- Trial name
- NCT03568630
- Where
- United States
- Volunteers
- 1,250 people, healthy volunteers welcome
- Sponsor
- University of Nebraska
Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes
A Study to Learn How Safe the Study Treatment Elinzanetant is and How it Moves Into, Through and Out of the Body When Given as Single Increasing Doses That Are Higher Than Normally Used Compared to Placebo and Moxifloxacin in Healthy Participants
Researchers are looking for a better way to treat vasomotor symptoms, a condition of having hot flashes. The condition is caused by hormonal changes and occurs primarily in women, but can also affect men.
- Conditions
- Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes, Healthy Volunteers
- Trial name
- NCT05481528
- Testing
- Moxifloxacin, Elinzanetant (BAY3427080)
- Where
- Germany
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Bayer
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
Neurofibromatosis Type 1
Reading Disability in Children With NF1
A national, multicenter, randomized, transverse clinical trial, estimating the existence of phonological deficits in children with NF1 children compared with control children without NF1 with the same reading level.
- Trial name
- NCT02397967
- Testing
- Neuropsychological assessments
- Where
- 6 sites in France
- Volunteers
- 181 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
To Determine Bioequivalence Under Fed Conditions
Bioequivalence Study of Doxycycline Monohydrate Tablets Under Fed Conditions
The purpose of this study is to compare the single-dose bioequivalence of Par and Oclassen doxycycline monohydrate 100 mg.
- Trial name
- NCT01380496
- Testing
- doxycycline monohydrate
- Where
- Canada
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Par Pharmaceutical, Inc.
Obesity
GLP-1 Response and Effect in Individuals With Obesity Causing Genetic Mutations
The obesity epidemic is attributable to dietary and behavioral trends acting on a person's genetic makeup to determine body mass and susceptibility to obesity-related diseases.
- Trial name
- NCT02082496
- Testing
- Liraglutide
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Asthma, COPD
Blood Collection From Individuals With Lung Disease for Genetic Studies (Qatar)
This is a research study where researchers are collecting blood to evaluate the genetic characteristics of individuals with chronic lung diseases, including asthma, COPD (chronic obstructive pulmonary disease), interstitial lung…
- Conditions
- Asthma, COPD, Interstitial Lung Disease, Cystic Fibrosis
- Trial name
- Q-BC (NCT00504361)
- Where
- Qatar
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Vaccine-induced Thrombotic Thrombocytopenia Syndrome, Guillain-Barre Syndrome
Gene Sequencing as a Strategy for Identifying Genetic Factors Associated With Serious Adverse Events After Covid-19 Vaccines in Use in Brazil
This protocol proposes to investigate genetic factors that may be involved in the pathogenesis of adverse events of interest with selected covid-19 vaccines: vaccine-induced immune thrombotic thrombocytopenia, and neurological…
- Conditions
- Vaccine-induced Thrombotic Thrombocytopenia Syndrome, Guillain-Barre Syndrome, Acute Disseminated Encephalomyelitis, Transverse Myelitis
- Trial name
- NCT05630313
- Where
- Brazil
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- The Immunobiological Technology Institute (Bio-Manguinhos) / Oswaldo Cruz Foundation (Fiocruz)
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