Clinical trials: Genetic Condition
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
Brugada Syndrome
AnalyST & Brugada Syndrome - Feasibility Study
Brugada syndrome is characterized by a ST shift on the surface ECG, and a specific morphology of the Twave. This ECG abnormality is called a type 1-ECG, and is variable in time.
- Trial name
- NCT02052765
- Testing
- ECG continuous recording (Analyze ST)
- Where
- France
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Abbott Medical Devices
Pregnancy
Does Preimplantation Genetic Diagnosis for Sex Selection Affect the Pregnancy and Miscarriage Rates in Women With an Expected Good Ovarian Response Undergoing IVF/ICSI Cycles?
Records of women who had Pre-genetic diagnosis (PGD) over the last 3 years will be reviewed and its outcome will be compared to other records of women who had IVF/ICSI without PGD.
- Trial name
- NCT02149251
- Testing
- Pre-genetic diagnosis
- Where
- Egypt
- Volunteers
- 11,006 people, healthy volunteers welcome
- Sponsor
- Cairo University
Mucopolysaccharidosis Type I
MRS to Determine Neuroinflammation and Oxidative Stress in MPS I
Neuroinflammation and oxidative stress have been shown to be present in persons with mucopolysaccharidosis type I (MPS I), but their effect on disease severity and disease progression is unknown.
- Trial name
- NCT03576729
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Systemic Lupus Erythematosus
Lupus Genetics Studies
The Lupus Genetics Studies and Lupus Family Registry \& Repository are working to find the genes that reveal the causes of systemic lupus erythematosus (SLE, or lupus).
- Trial name
- LFRR (NCT00071175)
- Where
- United States
- Volunteers
- 3,460 people, healthy volunteers welcome
- Sponsor
- Oklahoma Medical Research Foundation
Neurofibromatosis 2, Meningioma
AZD2014 In NF2 Patients With Progressive or Symptomatic Meningiomas
The goal of this clinical research study is to learn if the study drug AZD2014 can shrink growing or symptomatic meningiomas.
- Trial name
- NCT02831257
- Testing
- AZD2014
- Where
- 2 sites in United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Genetic Predisposition
Comparative Genetic and Immune Response Analysis of Different COVID-19 Vaccine Candidates Using Multi-OMICS Approach
Reaction of the immune system and the body to a Coronavirus-19 (COVID-19) vaccination is so different and ultimately unpredictable has not yet been clarified.
- Trial name
- COVID 19-VAC (NCT04873128)
- Testing
- Multi-OMICS
- Where
- Germany
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- University Hospital Tuebingen
Cystic Fibrosis
Functional Analysis by Dynamic Imaging of the Respiratory Epithelium in Infants With Cystic Fibrosis
Cystic fibrosis (CF) is characterized by airway inflammation and infection leading to progressive destruction of lungs. One of the most important abnormalities in CF is an abnormal processing of the mutated CFTR protein through…
- Trial name
- NCT01605565
- Testing
- A nasal brushing
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Pre-Exposure Prophylaxis, Hiv
Peer-led Social Media Intervention to Prevent HIV Among Young Men Who Have Sex With Men (YMSM)
The aim of this study is to examine the effect of social media intervention on the use of pre-exposure prophylaxis (PrEP) by young men who have sex with men (YMSM) in the greater New Haven area.
- Conditions
- Pre-Exposure Prophylaxis, Hiv, Men
- Trial name
- NCT04417946
- Testing
- PrEP messages, Heath messages
- Where
- 2 sites in United States
- Volunteers
- 227 people, healthy volunteers welcome
- Sponsor
- Yale University
Metabolic Syndrome X, Down Syndrome
Frequency of Metabolic Syndrome in Down Syndrome Patients
The aim of this study is to assess the frequency of metabolic syndrome in Down syndrome patients because the prevalence of diabetes mellitus and obesity is higher in individuals with Down syndrome than in the general population.
- Trial name
- NCT00864461
- Where
- Mexico
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- Universidad de Guanajuato
Diabetes Mellitus, Type 2
Genetics of Response to Canagliflozin
Five daily doses of canagliflozin (300 mg) will be administered to healthy volunteers. Pharmacodynamic responses to canagliflozin will be assessed both at 2 days and 6 days after administration of the first dose of canagliflozin.
- Trial name
- NCT02891954
- Testing
- Canagliflozin
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
Obesity, Childhood, Cognition
NiPPeR Randomised Trial - Child Follow Up Study
There is an increasing focus on the need to optimise nutrition, lifestyle and metabolism of parents before and during pregnancy and of the infant after birth, but as yet there is limited understanding of the specific influences…
- Conditions
- Obesity, Childhood, Cognition, Neurobehavioral Manifestations, Metabolic Disturbance
- Trial name
- NiPPeR Child (NCT05934422)
- Testing
- Intervention (Study Nutritional Drink), Control (Standard Nutritional Drink)
- Where
- 3 sites in New Zealand, Singapore and 1 more
- Volunteers
- 461 people, healthy volunteers welcome
- Sponsor
- University of Southampton
Psoriasis
Single Cell Genomics of Psoriatic Skin
The purpose of this study is to understand how genetics play a role in psoriasis. Specifically, a genetic allele HLA-Cw6 is known to be associated with psoriasis, and this study aims to find out how it affects genetic and protein…
- Trial name
- NCT02929745
- Testing
- Skin biopsy, Blood draw
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Hemoglobinopathies
Screening for Hemoglobinopathies in Pregnant Women
This prospective monocentric study project is to identify hemoglobinopathies in pregnant women in order to optimize antenatal care and to investigate the prevalence of hemoglobinopathies in pregnant women in Switzerland.
- Trial name
- NCT04029142
- Testing
- Review of routine lab data
- Where
- Switzerland
- Volunteers
- 1,785 people, healthy volunteers welcome
- Sponsor
- University Hospital, Basel, Switzerland
Short Stature
IGF-1 Treatment for Individuals With Short Stature Due to PAPP-A2 Deficiency
With this study we want to investigate the pharmacokinetic (PK) effect of a single injection of rhIGF-1 in patients with PAPP-A2 mutations compared to heterozygous carriers and healthy controls.
- Trial name
- NCT02636270
- Testing
- Increlex
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Acute Pancreatitis
Assessment of the Different Etiological and Susceptibility Markers in Patients With Pancreatitis: Investigating IG4, Cytomegalovirus, Coxsackie- Virus, Genetic Polymorphism of Vitamin D Receptor Gene
Acute pancreatitis (AP) is a multifactorial disease. AP represents a significant number of hospital admissions. Most of the patients are admitted in an acute setting.
- Trial name
- NCT03830073
- Testing
- Measurement of VDR genetic polymorphism
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assiut University
Cystic Fibrosis
Investigating the Use of a Positive Parenting Programme to Improve Treatment Adherence in Cystic Fibrosis
Cystic fibrosis (CF) is an illness that makes the lungs clog up with sticky mucus. There is no cure and so treatments are used to help make the illness easier to live with.
- Trial name
- NCT02501369
- Testing
- Self-directed Teen Triple P
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Emma Wells
ADPKD, Autosomal Dominant Polycystic Kidney Disease
ADPKD Alterations in Hepatic Transporter Function
This is a single center, comparative cohort study to investigate alterations in hepatic transporter function in subjects with autosomal dominant polycystic kidney disease (ADPKD) compared to healthy subjects and subjects with…
- Conditions
- ADPKD, Autosomal Dominant Polycystic Kidney Disease, Renal Disease
- Trial name
- NCT03717883
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Lung Cancer
Genetic Polymorphisms in UGT1A6 and UGT2B7 in Asian Population: Association With Lung Cancer Phenotype
Primary 1. To determine the presence and frequency of novel and known UGT1A6 and UGT2B7 polymorphisms in healthy Chinese, Malay and Indian subjects. 2.
- Trial name
- NCT00717353
- Where
- Singapore
- Volunteers
- healthy volunteers welcome
- Sponsor
- National University Hospital, Singapore
Friedreich Ataxia
Evaluation of the Effects of Calcitriol's in the Neurological Symptoms of Friedreich's Ataxia Patients
Friedreich's Ataxia (FA) is an autosomal recessive disease the mutation of which leads to a deficiency of a protein called frataxin, which is responsible for the symptoms of the disease.
- Trial name
- CalcitriolFA (NCT04801303)
- Testing
- Calcitriol, Blood analysis for frataxin's level measurement, Blood analysis for hypercalcemia's control
- Where
- Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Berta Alemany