Clinical trials: Genetic Association Studies
Atopic Dermatitis, Asthma
Prospective Longitudinal Observational Research in Atopic Dermatitis
Atopic dermatitis (AD) is a frequent chronic relapsing inflammatory skin disorder, characterized by intensely itchy eczema. AD usually starts within the first 2 years of life.
- Conditions
- Atopic Dermatitis, Asthma, Atopic Dermatitis and Related Conditions
- Trial name
- ProRaD (NCT04240522)
- Where
- Switzerland
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Hemophilia, Arthropathy of Knee
Evaluation of Static Postural Balance in Children With Hemophilia and Its Relationship With Joint Health
Hemophilia is a rare hematological disorder characterized by a partial or complete deficiency of clotting factor VIII or IX.Bleeding disorders mainly affect the musculoskeletal system.
- Conditions
- Hemophilia, Arthropathy of Knee, Arthropathy of Ankle or Foot
- Trial name
- NCT04406519
- Where
- Turkey (Türkiye)
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Necmettin Erbakan University
Pain, Chronic Pain
A Study of the Impact of Genetic Testing on Clinical Decision Making and Patient Care
The purpose of this study is to evaluate the impact of genetic testing on healthcare decisions and patient outcomes for patients suffering from pain, cardiovascular problems, Arthritis, Type II Diabetes, and/or Mental Health…
- Conditions
- Pain, Chronic Pain, Mental Disorders, Cardiovascular Diseases
- Trial name
- REVOLUTION (NCT02487888)
- Testing
- Unblinded to Genetic Testing Results, Blinded to Genetic Testing Results
- Where
- 31 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Proove Bioscience, Inc.
Long QT Syndrome, Brugada Syndrome
Healthy-related Quality of Life and Physical Activity of Children With Cardiac Malformations
The QUALIMYORYTHM trial is a multicentre controlled study, aiming to assess health-related quality of life (HRQoL) of 107 children aged 6 to 18 years old with inherited cardiac arrhythmia (long QT syndrome, Brugada syndrome…
- Conditions
- Long QT Syndrome, Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Arrhythmogenic Right Ventricular Dysplasia
- Trial name
- QUALIMYORYTHM (NCT04712136)
- Testing
- MRI
- Where
- France
- Volunteers
- 214 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Parkinson's Disease
Genetic Polymorphism and Parkinson's Disease in Taiwanese
To observe and analyze the correlation between Single Nucleotide polymorphisms (SNPs) and the incidence of Parkinson's disease in Taiwanese.
- Trial name
- NCT01996878
- Where
- Taiwan
- Volunteers
- 334 people, healthy volunteers welcome
- Sponsor
- Changhua Christian Hospital
T2DM
The Imaging Genetic Study of Type 2 Diabetes and Depression
To investigate the structural/functional abnormalities and the possible genetic endophenotypes of in the Type 2 Diabetes Patient With Depression.
- Trial name
- NCT03564431
- Testing
- Magnetic resonance
- Where
- China
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Kunming Medical University
Small-cell Lung Cancer
Berzosertib + Topotecan in Relapsed Platinum-Resistant Small-Cell Lung Cancer (DDRiver SCLC 250)
The main purpose of this study is to assess efficacy, safety, tolerability and pharmacokinetics (PK) of Berzosertib in combination with Topotecan in participants with relapsed, platinum-resistant small-cell lung cancer (SCLC).
- Trial name
- NCT04768296
- Testing
- Berzosertib, Topotecan
- Where
- 51 sites in United States, Belgium and 5 more
- Volunteers
- 76 people
- Sponsor
- EMD Serono Research & Development Institute, Inc.
Age-Related Macular Degeneration, Genetic Testing
The Moran AMD Genetic Testing Assessment Study
The goals of this study are: To assess the impact of genetic testing for Age-related Macular Degeneration (AMD) on lifestyle behaviors as measured by systemic and ocular carotenoid status.
- Conditions
- Age-Related Macular Degeneration, Genetic Testing, Nutritional Biomarkers
- Trial name
- MAGENTA (NCT05265624)
- Testing
- Early disclosure of genetic testing results, Late disclosure of genetic testing results
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Paul S. Bernstein
Transthyretin-Mediated Amyloidosis, ATTR Amyloidosis
ConTTRibute: A Global Observational Study of Patients With Transthyretin (TTR)-Mediated Amyloidosis (ATTR Amyloidosis)
The purpose of this study is to: Describe epidemiological and clinical characteristics, natural history and real-world clinical management of ATTR amyloidosis patients Characterize the safety and effectiveness of patisiran and…
- Trial name
- ConTTRibute (NCT04561518)
- Where
- 40 sites in United States, Brazil and 10 more
- Volunteers
- 1,500 people
- Sponsor
- Alnylam Pharmaceuticals
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
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Cystic Fibrosis
Sweat Response, Sweat Composition and Thermoregulatory Response to Exercise in Heat in Adults With Cystic Fibrosis on Modulator Therapy.
Cystic fibrosis (CF) is a common inherited condition in the Caucasian population resulting in poor function and/or production of the CF transmembrane conductance regulator (CFTR) protein.
- Trial name
- Sweat-CF (NCT05896488)
- Where
- United Kingdom
- Volunteers
- 18 people
- Sponsor
- University of Portsmouth
Neurofibromatosis 2, Vestibular Schwannoma
Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors
The purpose of this study is to determine if Lapatinib has any effect on tumors found in patients with Neurofibromatosis Type 2 (NF2). NF2 is a condition that mainly affects the skin and nervous system.
- Trial name
- NCT00973739
- Testing
- Lapatinib
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- NYU Langone Health
Amyloidosis, Amyloid Cardiomyopathy
Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
Transthyretin amyloidosis (ATTR) is a disease where the normally occurring transthyretin (TTR) protein falls apart and forms amyloid, a sticky plaque-like substance that accumulates in different organs in the body and can cause…
- Conditions
- Amyloidosis, Amyloid Cardiomyopathy, Transthyretin Amyloidosis, Cardiomyopathies
- Trial name
- NCT06563895
- Testing
- Acoramidis
- Where
- 104 sites in United States, Argentina and 22 more
- Volunteers
- 587 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Ketamine Abuse, Psychotic Disorders
Substance Misuse To Psychosis for Ketamine (SToP-K)
Evidence suggests that repeated or chronic ketamine use, as compared to acute ketamine users, posed a higher clinical risk of developing psychotic disorders, potentially related to the underlying chronic N-methyl-D-aspartate…
- Conditions
- Ketamine Abuse, Psychotic Disorders, Substance Use Disorders, Schizophrenia
- Trial name
- NCT03485339
- Testing
- genome testing
- Where
- 2 sites in Hong Kong
- Volunteers
- 162 people
- Sponsor
- The University of Hong Kong
Evaluate the Association Between Certain Environmental Exposures (e.g. Cigarette Smoking, Alcohol Drinking, Betel Nut Chewing…) and Head and Neck Cancers, Assess the Effect of Genetic Factors, Including Both SNP and Copy Number Variation (CNV) Through Analysis of Both Main Effect and Gene-gene Interaction
International Cancer of the Head and Neck, Genetics and Environment (InterCHANGE) Study
Our overall objective is to understand the role of lifestyle factors, genetics and HPV infection in the development and prognosis of head and neck cancer particularly in Asia.
- Trial name
- InterCHANGE (NCT01972802)
- Where
- Taiwan
- Volunteers
- 900 people
- Sponsor
- National Taiwan University Hospital
Hemophilia A, Hemophilia B
Global Epidemiologic Study of Preexisting Immunity to AAV in Adults With Severe Hemophilia
Assess the seroprevalence of neutralizing antibodies (NAb) to AAV in adults with severe hemophilia A (coagulation factor VIII [FVIII] <1%) or moderately severe to severe hemophilia B (coagulation factor IX [FIX] ≤2%).
- Trial name
- NCT03185897
- Testing
- Non-treatment, seroprevalence
- Where
- 23 sites in United States, Austria and 4 more
- Volunteers
- 242 people
- Sponsor
- Baxalta now part of Shire
VHL - Von Hippel-Lindau Syndrome
Quality of Life, Psychological Impact, and Care-related Challenges in Patients Affected by Von Hippel-Lindau Syndrome.
This is a single-centre, cross-sectional observational study aiming to assess the psychological burden, quality of life, and perceived barriers to care in patients with von Hippel-Lindau syndrome (VHL).
- Trial name
- QoL- VHL (NCT07275099)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- IRCCS Ospedale San Raffaele
THC, Cannabis
THC Crossover Study
This is a randomized, crossover study enrolling experienced dual cannabis-tobacco smokers (N=18) to describe the differences in THC and toxicant exposure, examining pharmacokinetic, subjective, and cardiovascular effects from…
- Conditions
- THC, Cannabis, Cannabis Smoking, Cannabis Use, Unspecified
- Trial name
- TRDRP (NCT04429568)
- Testing
- Smoked Cannabis, Vaped Cannabis, Tobacco Cigarette
- Where
- 2 sites in United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Cytomegalovirus Retinitis, HIV Infections
A Study of Foscarnet in the Treatment of Cytomegalovirus (CMV) of the Eyes in Patients With AIDS Who Cannot Use Ganciclovir
To study the safety and effectiveness of foscarnet in the treatment of AIDS patients who have active infection with cytomegalovirus (CMV) that is causing inflammation of the retina (retinitis).
- Trial name
- NCT00000697
- Testing
- Foscarnet sodium
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)