Clinical trials: Molecular Causes
Osteoarthritis, Hip, Rheumatoid Arthritis
Complex Molecular Etiology and Cellular Landscape of Hip Osteoarthritis
The purpose of this study is to cast light on the highly complex etiology and cellular landscape of hip osteoarthritis by utilising single-cell and spatial omics.
- Trial name
- OASEQ (NCT05278520)
- Testing
- Total hip arthroplasty
- Where
- 4 sites in Finland
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- University of Turku
Genetic Skeletal Diseases, Skeletal Dysplasia
Decoding the Genetic Landscape of Skeletal Diseases
This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders (GSDs); (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize…
- Conditions
- Genetic Skeletal Diseases, Skeletal Dysplasia, Molecular Causes, Skeletal Disorder
- Trial name
- SKDLAND (NCT05876416)
- Where
- Sweden
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- Karolinska Institutet
Brain Tumor, Glioma
The Etiology and Progression of Brain Tumors
The main goal of the study is to present a framework, which integrates DNA, RNA and tissue data to identify and prioritize genetic events that represent clinically relevant new therapeutic targets and prognostic biomarkers for…
- Conditions
- Brain Tumor, Glioma, Meningioma
- Trial name
- NCT01811524
- Volunteers
- 2,000 people
- Sponsor
- Tampere University Hospital
Thrombocytopenia, Inherited Platelet Disorder
Characterization of New Candidate Genes in Cases of Human Inherited Thrombocytopenia (CATCH)
Circulating blood platelets are small cellular elements that help to control bleeding (a process called hemostasis) and to avoid hemorrhage when blood vessels are injured.
- Trial name
- CATCH (NCT04272970)
- Testing
- Validation of a new gene / protein variant implicated in familial CT
- Where
- 2 sites in France
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Hereditary Diseases
Study of Clinical and Molecular Manifestations of Genetic Disorders
This study will investigate the cause and natural history (medical problems that appear over time) of certain genetic disorders.
- Trial name
- NCT00001466
- Where
- United States
- Volunteers
- 1,200 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Type 2 Diabetes Mellitus
The Sapienza University Mortality and Morbidity Events Rate (SUMMER) Study in Diabetes
This observational study is aimed at identifying new molecular promoters of mortality (and morbidity) in patients with type 2 diabetes mellitus (T2DM).
- Trial name
- SUMMER (NCT02311244)
- Where
- Italy
- Volunteers
- 5,139 people
- Sponsor
- University of Roma La Sapienza
Ultraviolet Light Burn
Molecular Responses Caused by UV Exposure of Human Skin
Pilot study to investigate the impact of exposure of human skin to low levels of UV light on blood markers related to stress in healthy women.
- Trial name
- SMR-UV (NCT05383664)
- Testing
- Ultra Violet Light Exposure
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Access Business Group
Focal Segmental Glomerulosclerosis, Nephrotic Syndrome
Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure
The investigators are trying to learn more about the cause of kidney diseases such as Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic syndrome by studying genetics.
- Conditions
- Focal Segmental Glomerulosclerosis, Nephrotic Syndrome, End Stage Renal Disease, Kidney Failure
- Trial name
- FSGS (NCT02194582)
- Where
- United States
- Volunteers
- 2,050 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Acute Ischemic Stroke, Haemorrhagic Stroke
Translational Immunodiagnostics in Stroke (TrImS)
In adult patients presenting to emergency departments within 24 hours of symptom onset with suspected acute stroke, we aim: 1. to identify early brain- and pathology-specific circulating, whole blood, plasma and serum panorOmic…
- Conditions
- Acute Ischemic Stroke, Haemorrhagic Stroke, Transient Ischemic Attacks, Cardioembolic Stroke
- Trial name
- TrImS (NCT05300997)
- Testing
- Biomarker blood draw and saliva collection
- Where
- China
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Spastic Ataxia
Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
The aim of this study is to determine the clinical spectrum and natural progression of Spastic Ataxias (SPAX) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular…
- Trial name
- SPAX-PBP (NCT04297891)
- Testing
- Clinical rating scale to measure Ataxia disease severity and progression, Clinical rating scale to measure spastic paraplegia disease severity and progression, Disease-specific severity index for adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
- Where
- 9 sites in Canada, France and 5 more
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Dr. Rebecca Schule
Cushing's Syndrome, Healthy
Study of Cushing's Syndrome Not Related to ACTH Production
This study is designed to provide information about the cause of two unusual types of Cushing's syndrome and to evaluate quality of life before and after cure of the disease.
- Trial name
- NCT00006278
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Hereditary Spastic Paraplegia
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders in a prospective multicenter natural history study, identify digital, imaging and…
- Trial name
- HSP-PBP (NCT03981276)
- Testing
- Clinical rating scale to measure disease severity and progression, Next-Gen Sequencing (NGS)
- Where
- 13 sites in Austria, Germany and 1 more
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Dr. Rebecca Schule
Fuchs Dystrophy, Fuchs' Endothelial Dystrophy
FECD-TRACE: Fuchs' Endothelial Corneal Dystrophy TRAjectory and Correlation With Genotype in the United Kingdom
FECD-TRACE is an integral component of a large research program dedicated to Fuchs Endothelial Corneal Dystrophy (FECD) in the United Kingdom.
- Conditions
- Fuchs Dystrophy, Fuchs' Endothelial Dystrophy, Fuchs' Endothelial Corneal Dystrophy of Bilateral Eyes, Corneal Dystrophy Fuchs
- Trial name
- FECD-TRACE (NCT06881771)
- Testing
- Clinical phenotyping, CTG18.1 Expansion Status Genotyping
- Where
- United Kingdom
- Volunteers
- 500 people
- Sponsor
- University College, London
Endometrial Cancer
Molecular Staging of Endometrial Cancer
This study, sponsored by NCI and the Gynecologic Oncology Group (GOG), will collect tissue samples from women with cancer of the endometrium (lining of the uterus).
- Trial name
- NCT00340808
- Where
- United States
- Volunteers
- 5,492 people
- Sponsor
- National Cancer Institute (NCI)
Rett Syndrome
New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization
Rett syndrome (RTT) is a genetic encephalopathy and the typical form is caused by mutations in the gene MECP2. It is a genetically heterogeneous pathology.
- Trial name
- RETT (NCT02885090)
- Testing
- Blood sampling
- Where
- 9 sites in France
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
Hepatocellular Carcinoma
Dissection of the Molecular and Immunological Interaction in Patients With HCC of Viral and Non-viral Etiologies
This project will clarify the potential interaction between HBV infection and steatosis, and their impact on genetic alterations and tumor immune microenvironment.
- Trial name
- T4222 (NCT05613621)
- Where
- 4 sites in Taiwan
- Volunteers
- 579 people
- Sponsor
- National Health Research Institutes, Taiwan
Hypogonadotropic Hypogonadism, Kallmann Syndrome
Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders
The aims of this study are: 1) to identify genes that play a role in human pubertal development and reproduction, 2) to characterize the phenotypic spectrum of patients with these gene defects, and 3) to discern the mode of…
- Conditions
- Hypogonadotropic Hypogonadism, Kallmann Syndrome, Puberty, Delayed, Puberty, Precocious
- Trial name
- NCT00494169
- Where
- United States
- Volunteers
- 4,042 people
- Sponsor
- Massachusetts General Hospital
Cardiac Arrest (CA)
Evaluation of Genetic-molecular Causes of Out-of-Hospital Cardiac Arrest: From Patients to Families
The aims are to define the exact prevalence of hereditary heart diseases in out-of-hospital cardiac arrest (OHCA) patients taking also into account gender, patient and OHCA characteristics, provincial settings and environmental…
- Trial name
- GenetiCA (NCT06844851)
- Where
- Italy
- Volunteers
- 1,725 people
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
Severe Intellectual Disability
Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
Intellectual disability (ID) moderate or severe affects about one child in 250, with 3000 to 4000 new cases each year. Chromosomal or molecular pathology causes are not identified in half of the cases by current techniques.
- Trial name
- HUGODIMS (NCT02136849)
- Where
- 5 sites in France
- Volunteers
- 228 people
- Sponsor
- Nantes University Hospital
Ischemic Stroke
Interest of Molecular Analysis of Cerebral Thrombi in Determining the Prognosis and Etiology of Cerebral Infarction
The MATISSE (Molecular Analysis of Thrombus for Ischemic Stroke prognosis and Etiology) project evaluates the hypothesis that the molecular composition of cerebral thrombus in metabolites, lipids, and proteins conditions the…
- Trial name
- MATISSE (NCT05658835)
- Testing
- Thrombi and blood analyses
- Where
- 4 sites in France
- Volunteers
- 311 people
- Sponsor
- Assistance Publique Hopitaux De Marseille