Clinical trials: Epigenetics, open to volunteers
Rare Disease, Undiagnosed Disease
EpiSign International: Expanding Epigenomic Testing in Rare Disease
The purpose of this study is to assess the utility of EpiSign software and an integrated DNA methylation and copy number variant (CNV) microarray technology in helping to diagnose individuals with rare diseases.
- Conditions
- Rare Disease, Undiagnosed Disease, Genetic Diseases, Inborn, Congenital Abnormalities
- Trial name
- NCT07839754
- Testing
- Integrated EPIC/CNV microarray with EpiSign analysis, EpiSign analysis with EPIC DNA methylation microarray
- Where
- United Kingdom
- Volunteers
- 192 people
- Sponsor
- University of Manchester
Well-Being, Psychological, Loneliness
Physiological, Hormonal, and DNA-based Mechanisms of Psychosocial Stress and Therapeutic Effect
The goal of this trial is to learn if the Groups 4 Health (G4H) intervention is effective in supporting student well-being at the University of Helsinki.
- Trial name
- NCT07152652
- Testing
- Groups 4 health
- Where
- Finland
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- University of Helsinki
Malaria, Bacterial Co-infection
Host Immunity, Plasmodium and Pathogens Co-Infections
Few studies have focused on malaria co-infections, mainly caused by Plasmodium falciparum, occurring mainly in children under 5 years of age in sub-Saharan Africa.
- Trial name
- HIPPI (NCT06769815)
- Testing
- Blood sample, Urine sample, oropharyngeal sample
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Institut Pasteur
Self-harm, Personality Disorder, Borderline
Self-harm Behaviour Among the Most At-risk Adolescents
In the proposed study, three objectives will be pursued: 1. To develop a method to identify more effectively the acute and long-term risk of adolescents with the most threatening self-harm behaviours. 2.
- Conditions
- Self-harm, Personality Disorder, Borderline, Epigenetic Disorder, Non-Suicidal Self Injury
- Trial name
- SH-MARA (NCT05765864)
- Testing
- Enrollment questionnaire, General questionnaire1, General questionnaire2, General questionnaire3, Columbia Suicide Severity Rating Scale (CSSRS), The Brief Non-Suicidal Self-Injury Assessment Tool (B-NSSI-AT)
- Where
- 2 sites in Slovenia
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- University of Ljubljana, Faculty of Medicine
Charcot Marie Tooth Disease, DIFGAN
Genotype/Phenotype Correlation of MORC2 Mutations
The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations.
- Conditions
- Charcot Marie Tooth Disease, DIFGAN, Developmental Delay (Disorder), Impaired Growth
- Trial name
- PhenoMORC2 (NCT07038239)
- Testing
- Skin biopsy, Blood sample
- Where
- 12 sites in France
- Volunteers
- 45 people
- Sponsor
- Hospices Civils de Lyon
PCOS, Offspring, Adult
Offspring Born to Mothers With Polycystic Ovary Syndrome in Guangzhou Cohort Study
The Offspring Born to Mothers with Polycystic Ovary Syndrome in Guangzhou Cohort study (PCOS-BIG) was established to investigate the short- and long-term effects of intrauterine exposure to maternal PCOS on the health of…
- Conditions
- PCOS, Offspring, Adult, Hyperandrogenism, Epigenetics
- Trial name
- PCOS-BIG (NCT03742011)
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Guangzhou Women and Children's Medical Center
Germ Cell Tumor, Germinoma
Molecular Epidemiology of Pediatric Germ Cell Tumors
A Non-Therapeutic Study that aims to establish a cohort of GCT survivors to understand short term and long-term adverse effects of treatment and to conduct molecular analyses to improve risk stratification.
- Conditions
- Germ Cell Tumor, Germinoma, Teratoma, Embryonal Carcinoma
- Trial name
- NCT05564026
- Testing
- Questionnaire Administration, Tumor Specimen Collection, Germline DNA Samples
- Where
- United States
- Volunteers
- 1,151 people
- Sponsor
- Children's Oncology Group
Baker Gordon Syndrome, Rare Neurodevelopmental Conditions
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity.
- Conditions
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder
- Trial name
- NCT07329257
- Testing
- No Intervention: Observational Cohort
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Cystic Fibrosis (CF)
Impact of Elexacaftor-Tezacaftor-Ivacaftor Treatment on Metabolic, Epigenetic and Fecal Microbiota Profiles in People With Cystic Fibrosis.
Cystic Fibrosis (CF) is a genetic disease that affects multiple organs and systems. In recent years, the marketing of CFTR protein modulator drugs, such as the Elexacaftor-Tezacaftor-Ivacaftor (ETI) combination, has significantly…
- Trial name
- NCT07363304
- Testing
- Elexacaftor, Tezacaftor, Ivacaftor
- Where
- 6 sites in Italy
- Volunteers
- 150 people
- Sponsor
- Meyer Children's Hospital IRCCS
Down Syndrome
Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
Heterokaryotypic monozygotic twins discordant for Down syndrome (DS) are very rare, with an incidence estimated to be less than 1 over 7,000,000 pregnancy in the general population.
- Trial name
- Colibri (NCT05767216)
- Testing
- Biological sampling
- Where
- France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Institut Jerome Lejeune
Bipolar Disorder (BD)
Epigenetic and Neurochemical Correlates of Bipolar Disorder
Aim of Study: To assess DNA methylation of the IL1-B gene in individuals with BD compared to healthy controls. To evaluate the expression of 5-hydroxytryptamine (serotonin) receptors in BD and shed more light into its role into…
- Trial name
- NCT06829316
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- Assiut University
Fat Mass, Risk Factors Cardiovascular Disease
Follow up Study of Varapodio Trial: Effect of Longevity and Fasting Mimicking Diet on Risk Factors Age Correlated and Biomarkers of Aging
A large ongoing randomized, open-label trial aimed at evaluating the effects of two different dietary interventions, FMD and LD, on body composition and cardiovascular (CV) biomarkers in a real word population (NCT05698654) is…
- Conditions
- Fat Mass, Risk Factors Cardiovascular Disease, Epigenetic Aging, Metabolism Changes
- Trial name
- NCT07255300
- Testing
- fasting mimicking diet
- Where
- Italy
- Volunteers
- 135 people, healthy volunteers welcome
- Sponsor
- Fondazione Valter Longo
Nephrotic Syndrome Steroid-Dependent, Nephrotic Syndrome Steroid-Resistant
Biomarkers and Outcome Predictors of Pediatric Nephrotic Syndrome: A Genetic, Transcriptomic, and Secretome Multiomics Study
Idiopathic Nephrotic Syndrome is a rare disease of the kidneys, which typically affects children. For most affected children there is the need of a prolonged treatment with drugs reducing the activity of the immune system, also…
- Conditions
- Nephrotic Syndrome Steroid-Dependent, Nephrotic Syndrome Steroid-Resistant, Nephrotic Syndrome in Children, Glomerulonephritis
- Trial name
- PRECISE (NCT06792448)
- Volunteers
- 350 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Behcet Disease and Vascular Involvement
Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease
Behçet disease (BD) is a chronic multisystem inflammatory disorder with a relapsing-remitting course. Pediatric-onset BD is rare and characterized by marked clinical heterogeneity, frequent incomplete presentation at disease…
- Trial name
- PED-BD (NCT07375940)
- Testing
- Biomarker analysis of blood samples
- Where
- 2 sites in Italy, United Kingdom
- Volunteers
- 90 people
- Sponsor
- Meyer Children's Hospital IRCCS
Acute Myeloid Leukemia, in Relapse, Acute Myeloid Leukemia Refractory
Venetoclax to Augment Epigenetic Modification and Chemotherapy
The investigator is testing the addition of venetoclax to 5-azacitidine and vorinostat followed by standard chemotherapy to enhance treatment response in AML patients.
- Trial name
- NCT05317403
- Testing
- Venetoclax, Azacitadine, Vorinostat
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Medical College of Wisconsin
Preterm Birth, Mother-Infant Interaction
Continuous Delivery Room Skin-to-skin-study for Moderate and Late Preterm Infants
The goal of this randomized controlled trial is to compare the effect of direct skin-to-skin contact in moderate and late preterm infants.
- Conditions
- Preterm Birth, Mother-Infant Interaction, Infant Development
- Trial name
- COSY (NCT05975203)
- Testing
- skin-to-skin contact
- Where
- Germany
- Volunteers
- 60 people
- Sponsor
- University of Cologne
Thoracic Cancers, Malignant Pleural Mesotheliomas NOS
Evaluation of Cell Changes in Blood and Tissue in Cancers of the Lung, Esophagus and Lung Lining
Background: Chromatin is is the structural building block of a chromosome. It is found inside the nucleus of the cell and consists of a complex of DNA and protein.
- Conditions
- Thoracic Cancers, Malignant Pleural Mesotheliomas NOS, Lung Cancer NOS, Esophageal Cancers NOS
- Trial name
- NCT00242723
- Where
- United States
- Volunteers
- 1,559 people
- Sponsor
- National Cancer Institute (NCI)
Autism Spectrum Disorder (ASD)
Investigation of the Genetic and Environmental Causes of Autism: a Multi-Center Study
The goal of this observational study is to investigate the genetic and epigenetic mechanisms that may contribute to the development of Autism Spectrum Disorder (ASD) in individuals of different age groups.
- Trial name
- ASD-Omics-TR (NCT06662591)
- Where
- 20 sites in Turkey (Türkiye)
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Research and Treatment Society of Genetic Disorders
Asthma, Pulmonary Function
Vitamin C to Decrease Effects of Smoking in Pregnancy on Infant Lung Function (VCSIP) Longer Term Follow Up
The overall aims of this protocol are to determine whether prenatal supplementation with vitamin C to pregnant smokers can improve pulmonary function at 10 years of age in their offspring.
- Conditions
- Asthma, Pulmonary Function, Wheezing, In Utero Nicotine
- Trial name
- VCSIP (NCT06106646)
- Testing
- No active intervention in this protocol (previously randomized to Vitamin C)
- Where
- 2 sites in United States
- Volunteers
- 225 people
- Sponsor
- Oregon Health and Science University
Obsessive-Compulsive Disorder, Social Anxiety Disorder
Neurobiological Markers of Treatment Response for Anxiety and OCD
Obsessive-compulsive disorder (OCD) and anxiety disorders are common and debilitating conditions which are often chronic when treatment is not provided.
- Conditions
- Obsessive-Compulsive Disorder, Social Anxiety Disorder, Panic Disorder
- Trial name
- NCT05663489
- Testing
- Bergen 4-Day Treatment (B4DT)
- Where
- Norway
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Haukeland University Hospital