Clinical trials: Genetic Association Studies
Juvenile Myoclonic Epilepsy
Biology of Juvenile Myoclonic Epilepsy
The investigators are collecting genetic information through blood samples as well as clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the UK, Europe and North America.
- Trial name
- BIOJUME (NCT03400371)
- Testing
- Blood draw, Existing samples
- Where
- 15 sites in United States, Canada and 7 more
- Volunteers
- 1,000 people
- Sponsor
- King's College London
Healthy, Mental Disorder
I-123 Brain Studies of Serotonin Metabolism in Psychiatric Patients and Normal Volunteers
Abnormalities in the re-uptake of dopamine and serotonin have been described in various neuropsychiatric disorders and substance abuse.
- Conditions
- Healthy, Mental Disorder, Obsessive Compulsive Disorder, Schizophrenia
- Trial name
- NCT00001771
- Where
- United States
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Palmar-Plantar Erythrodysesthesia, Breast Cancer
Study of 0.1% Uracil Topical Cream (UTC) for the Prevention of Hand-Foot Syndrome
The purpose of this research study is to see if combining uracil cream (UTC) with capecitabine (Xeloda) can prevent Hand-Foot Syndrome.
- Trial name
- NCT01100463
- Testing
- Cream, 0.1% Uracil Cream
- Where
- 6 sites in United States
- Volunteers
- 18 people
- Sponsor
- Nanometics (d.b.a. PHD Biosciences)
Down Syndrome
Elucidating Age-related Comorbidity Patterns in Down Syndrome (DS)
This study is a non-drug, multicenter, prospective cohort study. It will be conducted in 300 volunteers from 12 to 45 years of age (inclusive) with a diagnosis of Down syndrome from 3 countries (France, Spain, United Kingdom…
- Trial name
- GO-DS21 (NCT05310552)
- Testing
- No interventions - observational study
- Where
- 3 sites in France, Spain and 1 more
- Volunteers
- 230 people
- Sponsor
- King's College London
Solid Tumor
Tuvusertib (M1774) Human Mass Balance and Absolute Bioavailability Study (DDRIVER Solid Tumors 303)
This is a single sequence 2-period open label study in participants with advanced solid tumors. The purpose of Period 1 of this study is to assess the mass balance to determine drug-related entities present in circulation and…
- Trial name
- NCT06308263
- Testing
- Tuvusertib [14C]Tuvusertib microtracer, Tuvusertib, Tuvusertib + [14C]Tuvusertib microdose bolus injection
- Where
- Hungary
- Volunteers
- 12 people
- Sponsor
- Merck Healthcare KGaA, Darmstadt, Germany, an affiliate of Merck KGaA, Darmstadt, Germany
Genetic Polymorphism, Coronary Artery Disease
Association Study of Gene Polymorphisms With Cardiac Performance
The purpose of this study is to determine whether polymorphisms in G protein subunits, namely Galphas and Galphaq, are associated with altered cardiac performance in heart failure patients.
- Conditions
- Genetic Polymorphism, Coronary Artery Disease, Hemodynamics
- Trial name
- NCT00730899
- Where
- Germany
- Volunteers
- 500 people
- Sponsor
- University Hospital, Essen
Variegate Porphyria
Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Variegate Porphyria (VP)
The primary objective is to evaluate the impact of afamelanotide on the severity of skin disease in patients with Variegate Porphyria (VP).
- Trial name
- NCT05854784
- Testing
- Afamelanotide 16 MG
- Where
- Netherlands
- Volunteers
- 6 people
- Sponsor
- Clinuvel Pharmaceuticals Limited
Exocrine Pancreatic Insufficiency, Cystic Fibrosis
SOLUTION: Study of Oral Liprotamase Unit-Matched Therapy Of Non-Porcine Origin in Patients With Cystic Fibrosis
Liprotamase powder is a non-porcine, soluble and stable mixture of three digestive enzymes including lipase, protease, and amylase.
- Trial name
- NCT02279498
- Testing
- Liprotamase, porcine (pig) PERT
- Where
- 54 sites in United States, Canada and 5 more
- Volunteers
- 128 people
- Sponsor
- Anthera Pharmaceuticals
Non-Small Cell Lung Cancer
Tuvusertib (M1774) in Combination With Cemiplimab in Participants With Non-Squamous NSCLC (DDRiver NSCLC 322)
This is an Open-label, multicenter clinical study conducted in two Phases to establish the efficacy, safety, tolerability, and pharmacokinetics of the ataxia telangiectasia mutated and Rad3-related protein kinase (ATR) inhibitor…
- Trial name
- NCT05882734
- Testing
- M1774, Cemiplimab
- Where
- 54 sites in United States, Belgium and 6 more
- Volunteers
- 61 people
- Sponsor
- EMD Serono Research & Development Institute, Inc.
Atopic Dermatitis, Eczema
Using a Telemedicine Approach in a Genome-wide Association Study of Atopic Dermatitis - Searching for Novel Biomarkers in Clinically Relevant Phenotypes
Atopic eczema is a common skin disorder affecting at least 2-3% of the western population. Atopic eczema cannot be cured and therefore treatment aims to alleviate the symptoms of the disease.
- Conditions
- Atopic Dermatitis, Eczema, DNA
- Trial name
- NCT04965233
- Testing
- DNA reports, Information reports
- Where
- 2 sites in United States, Denmark
- Volunteers
- healthy volunteers welcome
- Sponsor
- Studies&Me
Transthyretin-mediated Amyloidosis (ATTR Amyloidosis)
A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy Subjects
The purpose of this study is to determine the safety, tolerability, pharmacokinetics and pharmacodynamics of ALN-TTRSC02 in healthy subjects.
- Trial name
- NCT02797847
- Testing
- ALN-TTRSC02, Sterile Normal Saline (0.9% NaCl)
- Where
- United Kingdom
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Alnylam Pharmaceuticals
Osteoporosis, Osteoporotic Fractures
Multifaceted Intervention Using Telehealth to Reduce the Risk of Falls and Fractures in Older Men
Men sustain over one-third of osteoporosis-related fractures worldwide. The burden of osteoporotic fractures in older men is substantial, and men suffer significantly worse fracture-related outcomes than women.
- Conditions
- Osteoporosis, Osteoporotic Fractures, Osteoporosis, Age-Related, Muscle Loss
- Trial name
- MisterFIt (NCT05927623)
- Testing
- Multifaceted Virtual Fracture Prevention Program, Attention Control
- Where
- 5 sites in Canada
- Volunteers
- 45 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Cytomegalovirus Infections, Primary Immune Deficiency Disorder
Virus Specific Cytotoxic T-Lymphocytes (CTLs) for Refractory Cytomegalovirus (CMV)
CMV cytotoxic T cells (CTLs) manufactured with the Miltenyi CliniMACS Prodigy Cytokine Capture System will be administered in children, adolescents and young adults (CAYA) with refractory cytomegalovirus (CMV) infection post…
- Trial name
- NCT03266640
- Testing
- viral specific cytotoxic t-lymphocytes
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- New York Medical College
Stargardt Disease, Stargardt Macular Degeneration
Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease
The purpose of this study is to determine the long term safety and tolerability of ALK-001 (C20-D3-retinyl acetate), and to explore the effects of ALK-001 on the progression of Stargardt disease in patients between the ages of 8…
- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy, Autosomal Recessive Stargardt Disease 1 (ABCA4-related)
- Trial name
- TEASE (NCT02402660)
- Testing
- ALK-001
- Where
- 14 sites in United States
- Volunteers
- 160 people
- Sponsor
- Alkeus Pharmaceuticals, Inc.
Blindness, Leber Congenital Amaurosis 10
Natural History Study of CEP290-Related Retinal Degeneration
A prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related…
- Conditions
- Blindness, Leber Congenital Amaurosis 10, Vision Disorders, Eye Diseases
- Trial name
- NCT03396042
- Where
- 7 sites in United States, France and 2 more
- Volunteers
- 26 people
- Sponsor
- Editas Medicine, Inc.
Neurofibromatosis
Acceptance and Commitment Therapy for Adolescents and Young Adults With Neurofibromatosis and Chronic Pain
Background: Neurofibromatosis type 1 (NF1) is a genetic disorder that can cause frequent and significant pain. This pain can have a severe impact on a person s quality of life.
- Trial name
- NCT01633008
- Testing
- ACT Workshop
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Obsessive Compulsive Disorder, Healthy
Cortical Excitability in Obsessive-Compulsive and Related Disorders
This study will use transcranial magnetic stimulation (TMS) to study the function of the cerebral cortex (outer layer of the brain) in people with obsessive compulsive disorder (OCD) and related disorders.
- Trial name
- NCT00029068
- Where
- United States
- Volunteers
- 145 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
HIV Infections, HIV Seronegativity
A Study to See Whether Two HIV Vaccines Are Safe and Can Prevent HIV Infection
The purpose of this study is to see whether an HIV vaccine, ALVAC vCP205, is safe and can prevent HIV infection. The vCP205 vaccine will be tested with another vaccine, gp160MN/LAI-2.
- Trial name
- NCT00004579
- Testing
- gp160 MN/LAI-2, ALVAC-HIV MN120TMG (vCP205)
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Walter Reed Army Institute of Research (WRAIR)
Pregnancy Related, Atopic Dermatitis
Study to Compare Maternal, Fetal, and Infant Outcomes of Women With Mild to Moderate Atopic Dermatitis Exposed to Ruxolitinib Cream During Pregnancy With an Unexposed Control Population
This observational (enrollment into the registry while the pregnancy is ongoing) study is being conducted to compare the frequency of major congenital malformation (MCM)s among infants of women exposed to ruxolitinib cream during…
- Trial name
- OPERA-1 (NCT06259669)
- Testing
- Ruxolitinib Cream
- Where
- United States
- Volunteers
- 958 people
- Sponsor
- Incyte Corporation
Proliferative Diabetic Retinopathy
Genetic Markers and Proliferative Diabetic Retinopathy
Type 2 Diabetes (TD2) is the leading cause of new cases of preventable blindness in these countries (and the gold-standard treatment, laser photocoagulation has proven to be effective in preventing vision loss at the end stage of…
- Trial name
- REDIAGEN (NCT02879422)
- Testing
- genetic analysis
- Where
- France
- Volunteers
- 302 people
- Sponsor
- CHU de Reims