Clinical trials: Genetic Variation, open to volunteers
Muscular Dystrophies, Myopathies
Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases
This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases.
- Conditions
- Muscular Dystrophies, Myopathies, Spinal Muscular Atrophy (SMA), Charcot Marie Tooth Disease
- Trial name
- NCT06666816
- Testing
- inapplicable
- Where
- 2 sites in Italy
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Williams Syndrome, Duplication
Defining the Brain Phenotype of Children With Williams Syndrome
Background: Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period.
- Trial name
- NCT01132885
- Where
- United States
- Volunteers
- 415 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Diabetes Mellitus, Monogenic Diabetes
Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
This observational 'recruit by genotype' study aims to provide insights into the cellular and molecular pathways underlying beta cell disorders and their physiological consequences.
- Conditions
- Diabetes Mellitus, Monogenic Diabetes, Hyperinsulinism
- Trial name
- ENDURE (NCT06478121)
- Testing
- Data and Blood collection, MRI
- Where
- United Kingdom
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Bronchiectasis, Cystic Fibrosis
Natural History of Bronchiectasis
Bronchiectasis is a chronic inflammatory and muco-obstructive condition that results in abnormal dilation of the airways, decline in lung function, frequent exacerbations, and chronic respiratory tract infections.
- Conditions
- Bronchiectasis, Cystic Fibrosis, Autoimmune Disease, Common Variable Immunodeficiency
- Trial name
- NCT00943514
- Where
- United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Anesthesia, Analgesia
Genetic Variants and Perioperative Morbidity and Mortality
Prospective association study to analyse perioperative patients' outcome. Outcome comprises intraoperative and postoperative complications e.g.
- Conditions
- Anesthesia, Analgesia, Surgical Procedure, Operative
- Trial name
- NCT02124499
- Where
- Switzerland
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Lichen Sclerosus Lesion
Identification of Genetic Variants Associated With Lichen Sclerosus
Lichen Sclerosus (LS) is a common genital skin condition that severely impacts on daily living. LS occurs worldwide but may be more common in the white population.
- Trial name
- GENITALS (NCT07720830)
- Testing
- No Interventions
- Where
- Switzerland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Gudula Kirtschig
Depression, Depressive Disorder
Metformin as Adjunct Therapy in Depression-obesity Comorbidity: Clinical and Genetic Evaluation
The patients with depression and obesity will receive add-on metformin with antidepressant therapy, which may result in greater improvement in depressive symptoms and BMI reduction compared to antidepressant monotherapy.
- Conditions
- Depression, Depressive Disorder, Overweight or Obesity, Depressive Symptoms
- Trial name
- NCT07654179
- Testing
- Metformin, Antidepressant Therapy
- Where
- 2 sites in Pakistan
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Neutrophil-mediated Inflammatory Dermatoses, Inflammatory Dermatoses
Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
This study is to identify rare, disease-causing mutations of several rare neutrophil dermatoses. To identify associations between NMID and variants in the genome next generation sequencing, mainly whole exome sequencing, will be…
- Trial name
- NEUTROSKIN (NCT05732987)
- Testing
- Analysis of samples
- Where
- Switzerland
- Volunteers
- 3,370 people, healthy volunteers welcome
- Sponsor
- University Hospital, Basel, Switzerland
Aneurism
Genetic Profile In Patients With Ruptured and Unruptured Intracranial Aneurysms
The project will involve multiple units within our Institute (Neurosurgery, Cerebrovascular Diseases, Neurology IV), as well as additional neurosurgical centers across Italy, for the enrollment of patients with saccular…
- Trial name
- ANEUBIO (NCT07233915)
- Where
- Italy
- Volunteers
- 252 people, healthy volunteers welcome
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Heart Failure, Dilated Cardiomyopathy (DCM)
UIC Multi-Ethnic DCM Registry
Dilated cardiomyopathy (DCM), a condition where the heart loses its ability to pump blood throughout the body, is a common cause of death in the United States (US).
- Trial name
- NCT07145138
- Where
- United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- University of Illinois Chicago
Myopia
Association of Genetic Variants With Myopia
This study aims to identify genetic factors linked to myopia, including those that influence a person's risk of developing it and how quickly it progresses (like changes in eye length).
- Trial name
- NCT07030153
- Testing
- Oral swab DNA analyzed for myopia-related gene variants
- Where
- 2 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Beijing Visionly Plus Eye Hospital
Stroke, Genetic Association Studies
Genetic Variants in Stroke
Stroke is the leading cause of death and disability in Brazil and worldwide, with a significant socioeconomic impact. Despite advances in prevention and treatment, the role of genetic variants in ischemic stroke remains…
- Trial name
- ÁRTEMIS-Brasil (NCT07186517)
- Where
- 11 sites in Brazil
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Hospital Moinhos de Vento
PRE-HYPERTENSION
Cardiovascular Effects of Purple-Fleshed Potatoes
This study is being done to evaluate the effect on cardiovascular biomarkers and anthocyanin-derived plasma metabolites of Peruvian native purple-fleshed potato consumed over a 4-week period by prehypertensive men ages 18-40…
- Trial name
- NCT07734948
- Testing
- Purple flesh potato, White flesh potato
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Instituto de Investigacion Nutricional, Peru
Fatigue in Multiple Sclerosis, Multiple Sclerosis
Fatigue in Multiple Sclerosis and Its Relationship to Inflammatory and Neurodegenerative Markers of the Disease
The study is focused on several independent quantifiable biomarkers (sNfL, sGFAP, mitochondrial activity, genetics and fatigue tests) to obtain more detailed information about MS and its progression.
- Conditions
- Fatigue in Multiple Sclerosis, Multiple Sclerosis, Neurofilaments Light Chains, GFAP
- Trial name
- MITOFATIGUE (NCT07025122)
- Where
- Slovakia
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Hospital, Martin
Contraception, Pharmacogenomic Drug Interaction
Oral Contraceptive Pill (OCP) Pharmacogenomics
The goal of this clinical trial is to evaluate how differences in specific parts of our DNA can influence how individual bodies break down the hormones contained within oral contraceptive pills, which could affect how well these…
- Trial name
- NCT06334315
- Testing
- Desogestrel / Ethinyl Estradiol Pill
- Where
- 2 sites in United States
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- Yale University
Lysosomal Storage Disorders, Gaucher Disease
Genetic Studies of Lysosomal Storage Disorders
The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders.
- Conditions
- Lysosomal Storage Disorders, Gaucher Disease, Parkinson Disease
- Trial name
- NCT00001215
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Obesity, Metabolic Syndrome
Genetics of Obesity in Chinese Youngs
The purpose of this study is to explore the pathogenesis and genetic susceptibility of obese subjects,providing a convincing argument for further treatment of obesity and metabolic syndrome.
- Trial name
- GOCY (NCT01084967)
- Where
- China
- Volunteers
- 8,000 people, healthy volunteers welcome
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Williams Beuren Syndrome, Williams Syndrome
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carrying other variants of 7q11.23…
- Conditions
- Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7
- Trial name
- NCT06930417
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Annexin A2, Stroke
Genetic Variants of Annexin A2 and Cryptogenic Stroke
Stroke is the third most common cause of death in developed countries. Various mechanisms of ischemic stroke exist. However, in young population, in a third of cases, the cause of a stroke cannot be determined despite an…
- Conditions
- Annexin A2, Stroke, Genetic Variants of Host, Fibrinolysis
- Trial name
- GENANXVA (NCT06880107)
- Testing
- blood withdrawal
- Where
- France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire, Amiens
Psoriasis, Psoriatic Arthritis
Genetic Variation in TRAF3IP2 (rs13190932)
Psoriasis is an immune-mediated inflammatory disease that is highly prevalent worldwide, affecting approximately 2-3% of the world population.
- Trial name
- NCT07086924
- Testing
- Methotrexate
- Where
- Egypt
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- South Valley University