Clinical trials: Genetic Association Studies
Crohn's Disease, Genetic Predisposition
Abnormal Fecal Microbiota in Healthy Subjects at High Risk for Crohn's Disease
Transversal multicentric French study on the microbiota in patients with Crohn's disease and their first degree healthy relatives The primary objective is the comparison of microbiota between patients with CD, healthy controls…
- Trial name
- MAGIC (NCT02826330)
- Testing
- biomarkers
- Where
- 10 sites in France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Alzheimer's Disease, Dementia
Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment
Patients with different types of dementia will be recruited and evaluated in national hospital departments for their usual neurological follow-ups.
- Conditions
- Alzheimer's Disease, Dementia, Neurodegenerative Disorders
- Trial name
- NCT00149175
- Testing
- Blood sampling, skin biopsy
- Where
- 12 sites in France
- Volunteers
- 2,256 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Alpha 1-antitrypsin Deficiency (AATD)
Screening for Alpha-1 Antitrypsin Deficiency in Patients With Airway Obstruction
Brief Summary: This study aims to find out if a genetic condition called Alpha-1 Antitrypsin Deficiency (AATD) is more common in people who have shortness of breath and signs of airway obstruction on their breathing tests.
- Trial name
- AATD-SAO (NCT07152834)
- Testing
- Blood Sampling
- Where
- Turkey (Türkiye)
- Volunteers
- 734 people, healthy volunteers welcome
- Sponsor
- Muğla Sıtkı Koçman University
Genotype-related Drug Metabolism
Open Label Study for the Functional Characterization of Drug Metabolism and Transport
Aim of this study is to comprehensively assess in healthy volunteers the metabolic processes and factors that define drug response.
- Trial name
- IKP243 (NCT01788254)
- Testing
- Codeine, Midazolam, pravastatin
- Where
- 2 sites in Germany
- Volunteers
- 144 people, healthy volunteers welcome
- Sponsor
- Matthias Schwab
Infertility Female, Recurrent Miscarriage
Study on the Association Between SXCI and RM and the Possible Genetic Mechanism
To determine whether there is higher incidence of skewed X chromosome inactivation(SXCI) in the recurrent miscarriage(RM) population compared with normal population, and verify the existing hypothesis of the possible genetic…
- Trial name
- NCT02504281
- Where
- China
- Volunteers
- 257 people, healthy volunteers welcome
- Sponsor
- ShangHai Ji Ai Genetics & IVF Institute
Schizophrenia
A Neurobiological Study on Heterogeneity of Schizophrenia: Genetic Variations and Neurobiological Differentiations
Schizophrenia (SCH) is a devastating brain disorder with grave personal, family and social cost. SCH is a complex and heterogeneous (both genetic and clinical) disorder with oligogenetic endowed vulnerability risk of disease…
- Trial name
- SONPOS (NCT01075373)
- Where
- Taiwan
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Bipolar Disorder
Study of the Genetic and Environmental Factors of Vulnerability in Bipolar Disorders
Bipolar disorder is a complex, multifactorial disorder with the intervention of genetic vulnerability factors. To help the identification of these genetic factors and to improve genotype-phenotype correlation, the identification…
- Trial name
- GAN (NCT02627404)
- Testing
- Blood sample, actometer
- Where
- France
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Healthy Subjects, Heme Oxygenase
Effects of Heme Arginate in Healthy Male Subjects
Heme oxygenase 1 (HO-1) serves as a protective gene. It has been shown that one factor modulating HO-1 activity is a genetic variation in the HO-1 gene (functional GT length polymorphism in the promotor region).
- Conditions
- Healthy Subjects, Heme Oxygenase, Genetic Polymorphism
- Trial name
- HEMAHS (NCT00682370)
- Testing
- saline solution, heme arginate
- Where
- Austria
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Daniel Doberer
Amyloid Cardiomyopathy, Transthyretin-Related
Single and Multiple Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of AG10
This is a single center, prospective, randomized, placebo-controlled study of AG10 in healthy adult subjects
- Trial name
- NCT03294707
- Testing
- AG10 oral tablet
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Homocystinuria
Proof of Concept Creatine Supplementation for Homocystinuria Study
Homocystinuria is a rare and inherited metabolic disorder, people with this condition don't have an enzyme needed to break down an amino acid called homocysteine.
- Trial name
- NCT06495567
- Testing
- Creatine, Dietary methionine tracer and protein intake
- Where
- Canada
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Type 2 Diabetes Mellitus
The Verona Newly Diagnosed Type 2 Diabetes Study
Type 2 diabetes mellitus is a complex disease whose clinical phenotype results from the variable combination of genetic and nongenetic factors.
- Trial name
- VNDS (NCT01526720)
- Where
- Italy
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Universita di Verona
Neurodegenerative Disorders
Development of IPS from Donated Somatic Cells of Patients with Neurological Diseases
Human fibroblasts and possibly other human somatic cells may be reprogrammed into induced pluripotent stem (iPS) cells by the forced expression of transcription factors (1-5).
- Trial name
- NCT00874783
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Vitamin D Deficiency
Vitamin D Intervention Trial in Healthy Chinese, Phase II
This is a double-blind, randomized, placebo-controlled trial. Based on inclusion and exclusion criteria, 400 eligible volunteers, who were 20-45 years, with 25-hydroxyvitamin D between 12.5-50 nmol/L and BMI between 18.5-28…
- Trial name
- NCT01998763
- Testing
- Vitamin D3
- Where
- China
- Volunteers
- 448 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Sciences
Drug-Related Side Effects and Adverse Reactions
DOAC ADRs Retrospective Study
This retrospective study's objective is to evaluate if Cipherome's algorithm could have predicted the serious adverse drug reactions (ADRs) experienced by patients while on direct oral anti-coagulants (DOACs).
- Trial name
- NCT04247919
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- Cipherome, Inc.
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
Primary Immunodeficiency Diseases (PID)
Ex Vivo Evaluation of JAK-inhibitor and Gene Therapeutical Approach in JAK-STAT Related Disorders
The investigators want to study the JAK-inhibitors and their impact on the immune system and evaluate the potential of a gene-therapeutic strategy
- Trial name
- JAKarta (NCT07261891)
- Testing
- blood sampling
- Where
- Belgium
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- prof. dr. Rik Schrijvers
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
Retinitis Pigmentosa, Retinal Degeneration
The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa Patients
Medical Marijuana is used widely, and its effects on the visual system and the function of the retina have not been investigated thoroughly.
- Conditions
- Retinitis Pigmentosa, Retinal Degeneration, Cannabis
- Trial name
- NCT03078309
- Testing
- cannabis
- Where
- Israel
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Bipolar and Related Disorders
Enhancing Cognitive Reserve of the Offsprings of Bipolar and Schizophrenic Patients
The high hereditary component and the contribution of neurodevelopmental processes in bipolar disorder and schizophrenia means implies the children of these patients are considered a high risk population for both diseases and…
- Trial name
- NCT03722082
- Testing
- Enhancing Cognitive Reserve, Support intervention
- Where
- Spain
- Volunteers
- 173 people, healthy volunteers welcome
- Sponsor
- Hospital Clinic of Barcelona
Prader-Willi Syndrome
Study of Emotion and Cognition Abilities of Children With PWS and Proposition of an Innovative Remediation
The present project project is divided in two parts. The primary aim of the part 1 of this study is to evaluate emotional control abilities of children with Prader-Willi syndrome (PWS) aged from 9 to 15 years and to study…
- Trial name
- PRACOM1 (NCT04526379)
- Testing
- Questionnaires, t-VNS
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse