Clinical trials: Genetic Disorders
Allergy, Asthma
Early Origins of Allergy and Asthma
Birth cohort study with recruitment during pregnancy to determine prenatal and perinatal conditions, as well as genetic and epigenetic factors, that participate in the early setting of immune responses, and the role of these in…
- Conditions
- Allergy, Asthma, Food Allergy, Allergic Sensitisation
- Trial name
- ARIES (NCT04186949)
- Where
- Chile
- Volunteers
- 273 people, healthy volunteers welcome
- Sponsor
- Pontificia Universidad Catolica de Chile
Nursing Caries
Nonpharmacological Approaches and Parental Education in Children With Sickle Cell Disease
Aim: Sickle cell disease (SCD) is a hereditary disease. Approximately 5% of the world's population carries trait genes for haemoglobin disorders, mainly, sickle-cell disease and thalassaemia.
- Trial name
- NCT04121247
- Testing
- nonpharmacological approaches to parents of children with sickle cell disease training program
- Where
- Turkey (Türkiye)
- Volunteers
- 163 people, healthy volunteers welcome
- Sponsor
- Akdeniz University
Genetic Disorders
Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
The hypothesis to be tested: After the construction of a database of anthropometric measurements, the system would extract important features of a given facial surface and be able to match it with existing morphometric figures.
- Trial name
- DW-6/2007 (NCT00705055)
- Where
- 2 sites in Israel
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Carmel Medical Center
Severe Combined Immunodeficiency
Study Through Imaging of Visceral Lymphoid Organs in Patients With SCID Who Have Recieved Bone Marrow Allograft
To investigate the presence of seconday of lymphoid organs in patients who underwent allogenic hematopoietic stem cell transplantation 15 to 45 years ago.
- Trial name
- LymphImaging (NCT04246840)
- Where
- France
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Association Pour l'Aide a la Recherche en Immunologie Pediatrique
Turner Syndrome
Risk of Diabetes in Young Turner Syndrome Patients
Turner Syndrome is a common genetic disorder. Seventy percent of adults with Turner Syndrome have abnormalities in glucose metabolism which can lead to diabetes.
- Trial name
- NCT02160717
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Wrinkle
BTL-785F Device for Improving the Structure of Facial Muscles
This study will evaluate the clinical safety and the performance of the BTL-785F system equipped with the BTL-785-7 applicator for non-invasive facial remodeling and investigate its effect on muscles and wrinkles.
- Trial name
- NCT05524740
- Testing
- BTL-785-7
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- BTL Industries Ltd.
Facial Aging, Skin Laxity
Quantified Evaluation of Noninvasive System Delivering Microwave Energy for Unwanted Fat Reduction and Skin Tightening in Asians.
The goal of this observational study is to evaluate the effectiveness and safety of microwave-assisted heating technology in facial fat reduction and skin tightening in Asians. The main questions it aims to answer are: 1.
- Conditions
- Facial Aging, Skin Laxity, Cheek Wrinkles
- Trial name
- NCT06925074
- Where
- Taiwan
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Chang Chang Cheng
Cardiomyopathy
The Genetic Basis for Familial Cardiomyopathy in Patients With Idiopathic Cardiomyopathy
In many of the patients with cardiomyopathy, the etiology is not clear . In about 30% there is a family history of cardiomyopathy .Our aim is to study the genetics basis for these patients with cardiomyopathy with no clear…
- Trial name
- NCT00322582
- Where
- Israel
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Carmel Medical Center
Dermatitis, Atopic
A Pharmacokinetic Study to Evaluate BBI-5000 Capsules and Food Effect in Healthy Adult Subjects
To assess the pharmacokinetics of 3 doses and the food effect of a single high dose of BBI-5000 capsules in healthy adult subjects.
- Trial name
- NCT02590289
- Testing
- BBI-5000
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Fresh Tracks Therapeutics, Inc.
Age - Related Macular Degeneration (AMD), Diabetic Macular Edema
Wide Field OCTA in Ocular Diseases
The main retinal diseases, whether or not associated with specific mutations genetic, cause progressive degeneration of vascular retinal structures and not vascular, resulting in decreased visual function.
- Conditions
- Age - Related Macular Degeneration (AMD), Diabetic Macular Edema, Diabetic Retinopathy, Myopia
- Trial name
- WOOD-2025 (NCT07298174)
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
Chronic Liver Disease, Hepatocellular Carcinoma
Genetic Polymorphisms of TNF-α Promoter and HBV Genotype on Outcome of HBV-Related Chronic Liver Disease
The prognosis of Hepatitis B virus (HBV)infection varies from minimal progressive liver disease to cirrhosis or hepatocellular carcinoma (HCC).Both viral and host genetic factors contribute to disease severity.
- Trial name
- NCT00629668
- Testing
- TNF-alpha and HBV genotype, TNF-alpha and HBV genotypes
- Where
- Taiwan
- Volunteers
- healthy volunteers welcome
- Sponsor
- Kaohsiung Medical University Chung-Ho Memorial Hospital
Coronary Artery Disease, Genetic Predisposition to Disease
Genetic Risk Stratification for Primary Prevention of CAD in Men and Pre & Post-menopausal Women
The investigators propose to genotype males and females at age 40 years and older, who are asymptomatic and without known heart disease (N=2000).
- Trial name
- NCT05169840
- Testing
- Genetic Risk Score for Coronary Artery Disease
- Where
- 3 sites in United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- St. Joseph's Hospital and Medical Center, Phoenix
Pachyonychia Congenita
International Pachyonychia Congenita Research Registry
International Pachyonychia Congenita Research Registry (IPCRR) is a patient registry for those suffering from Pachyonychia Congenita (PC).
- Trial name
- IPCRR (NCT02321423)
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Pachyonychia Congenita Project
Retinal Degeneration, Retinitis Pigmentosa
Molecular Genetics of Retinal Degenerations
This multinational study will investigate the inheritance of genetic retinal degeneration in families of different nationalities and ethnic backgrounds in order to identify the genes that, when altered, cause retinal…
- Trial name
- NCT00231010
- Where
- 6 sites in United States, China and 2 more
- Volunteers
- 3,549 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Mycobacterium Infections, Nontuberculous
Genome-Wide Association Study in Patients With Nontuberculous Mycobacterial Lung Disease
The aim of this study was to elucidate genetic susceptibility of patients with nontuberculous mycobacterial lung disease using genome-wide association study.
- Trial name
- NCT02832843
- Where
- South Korea
- Volunteers
- 2,808 people, healthy volunteers welcome
- Sponsor
- Seoul National University Hospital
Diabetes, Chronic Kidney Diseases
Benchtop NMR Spectroscopy for Assessment of Clinical Human Pathologies (BRANCH-P STUDY)
This research programme seeks to combine the resources of NHS primary care, with the leading spectroscopic work in low-magnetic fields of the Wilson Group (Nottingham Trent University) to demonstrate the potential for benchtop…
- Conditions
- Diabetes, Chronic Kidney Diseases, Cancer, Bowel Disease
- Trial name
- BRANCH-P (NCT05473325)
- Where
- United Kingdom
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Willows Health
Atopic Dermatitis
Impact of Narrowband UVB Phototherapy on Systemic Inflammation in Patients With Atopic Dermatitis
Atopic dermatitis (eczema) is a chronic inflammatory disease that causes significant morbidity and is now known to be associated with cardiovascular disease.
- Trial name
- NCT03083730
- Testing
- Narrow band UVB treatment (NB-UVB)
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Rockefeller University
Dermatitis Atopic
Dupilumab Effect on Pruritus Neuro-mechanisms in Patients With Atopic Dermatitis
Primary Objective: Assess change in neuronal architecture following long term treatment with dupilumab in skin biopsies from atopic dermatitis (AD) participants with chronic pruritus.
- Trial name
- DIFFEREN-STAD (NCT04823130)
- Testing
- Dupilumab (SAR231893)
- Where
- 3 sites in United States, Germany
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- Sanofi
Smoking Cessation, Genetic Predisposition
Efficacy of the Use of Genetic Markers in the Choice of the Pharmacological Treatment of Smoking (GENTSMOKING)
Smoking is the leading cause of avoidable death in the world. Smoking is associated with the development of cardiovascular and respiratory diseases, as well as being considered a leading cause of cancer death.
- Trial name
- GENTSMOKING (NCT03362099)
- Testing
- Varenicline Tartrate or bupropion
- Where
- Brazil
- Volunteers
- 361 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo General Hospital
Cancer
Physicians Survey on Genetic Testing
Research and development in genetic testing for cancer susceptibility genes has advanced rapidly in recent years, allowing healthy individuals, cancer patients, and their families to determine if they carry mutations which…
- Trial name
- NCT00341107
- Volunteers
- 1,350 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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