Clinical trials: Genetic Variation
Sleep
Electromagnetic Field Effects of Mobile Communication (LTE) on Sleep in the Context of Genetic Variation
The effect of electromagnetic fields of the latest standard in mobile communication (long term evolution, LTE) on sleep is studied in healthy, young individuals.
- Trial name
- NCT03074617
- Testing
- LTE field
- Where
- Switzerland
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- University of Zurich
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic…
- Trial name
- NCT06792500
- Testing
- Glycerol Tributyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- George Washington University
Coronary Artery Disease
Clopidogrel and Response Variability Investigation Study 2
To evaluate the role of the genetic variant 2C19*2 on the pharmacodynamic response as assessed by optical aggregometry and on the pharmacokinetic response as assessed by measuring active metabolites following an oral…
- Trial name
- CLOVIS2 (NCT00822666)
- Testing
- clopidogrel
- Where
- France
- Volunteers
- 109 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Hearing Disorder
Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan
Objective: One objective of this study is to genetically map and identify mutated genes for human hereditary hearing loss. A second objective is to study the function of these genes in the auditory system using mouse models.
- Trial name
- NCT00341874
- Where
- Pakistan
- Volunteers
- 18,009 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Fabry Disease, Fabry Disease, Cardiac Variant
Fabry Exercise Intolerance Study
Patients and healthy controls will undergo cardiopulmonary exercises and testing of the muscles strength to gain additional understanding of exercise intolerance as Fabry disease (FD) manifestation.
- Trial name
- FEISTY (NCT05413876)
- Testing
- Intermittent cardiopulmonary exercise test, Incremental cardiopulmonary exercise test
- Where
- Netherlands
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Pain
Genetic Basis For Variation In NSAID Analgesia In A Clinical Model Of Acute Pain
This study will evaluate how genetic makeup contributes to the variation in people regarding their sensitivity to and experience of pain.
- Trial name
- NCT00115752
- Testing
- Valdecoxib, COX Inhibitor
- Where
- United States
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- National Institute of Nursing Research (NINR)
Attempt Suicide
Genetic Variants Associated With Adolescent Suicide Attempts
Suicidal behaviors is known to aggregate in families. The purpose of this study is to evaluate association between common polymorphisms in genes important for neurobiological pathways linked to suicidal behaviors and suicide…
- Trial name
- VGTSA (NCT02001649)
- Testing
- SNP Genotyping
- Where
- France
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- University Hospital, Rouen
Sjogren-Larsson Syndrome (SLS)
Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
Sjogren-Larsson syndrome (SLS) is a rare genetic disease in which patients typically exhibit ichthyosis (dry, scaly skin), intellectual disability, spasticity, seizures and a distinctive maculopathy.
- Trial name
- SLS (NCT01971957)
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- University of Nebraska
Fatigue in Multiple Sclerosis, Multiple Sclerosis
Fatigue in Multiple Sclerosis and Its Relationship to Inflammatory and Neurodegenerative Markers of the Disease
The study is focused on several independent quantifiable biomarkers (sNfL, sGFAP, mitochondrial activity, genetics and fatigue tests) to obtain more detailed information about MS and its progression.
- Conditions
- Fatigue in Multiple Sclerosis, Multiple Sclerosis, Neurofilaments Light Chains, GFAP
- Trial name
- MITOFATIGUE (NCT07025122)
- Where
- Slovakia
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Hospital, Martin
Skeletal Dysplasia
Identification and Characterization of Bone-related Genetic Variants in Families
Identify novel genetic variants causing skeletal dysplasia in Qatari populations and to additionally develop an understanding of how those variants influence skeletal biology at a molecular and cellular level.
- Trial name
- NCT02762318
- Testing
- Samples With DNA
- Where
- Qatar
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Congenital Sucrase-isomaltase Deficiency (CSID)
Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain.
- Trial name
- CSID GPS (NCT01914003)
- Where
- 19 sites in United States
- Volunteers
- 53 people
- Sponsor
- QOL Medical, LLC
Wilson Disease
Circadian Variation of Urinary Copper Excretion in Wilson Disease Patients
Wilson's disease (WD) is a genetic disorder characterized by an accumulation of copper in the body, mainly in the liver and brain.
- Trial name
- VARCUWIC (NCT06430359)
- Testing
- urine and blood test
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Hospices Civils de Lyon
Kidney Cancer
DNA Variations in the Gene in Young Patients With Wilms' Tumor
RATIONALE: Studying samples of blood from patients with cancer in the laboratory may help doctors learn more about changes that may occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT00088803
- Testing
- molecular genetic technique, polymerase chain reaction, polymorphism analysis
- Where
- 232 sites in United States, Australia and 5 more
- Volunteers
- 471 people, healthy volunteers welcome
- Sponsor
- Children's Oncology Group
Pompe Disease, Pompe Disease (Late-onset)
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
- Trial name
- NCT03694561
- Testing
- Observational
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Duke University
Genetic Predisposition to Disease, Genetic Predisposition
Enhancing Information Management for Young Adults After Genetic Cancer Risk Testing
This research is being done to develop the electronic platform Nest for young adults (ages 18-39) who have had prior cancer genetic testing.
- Trial name
- NCT05759143
- Testing
- Nest Platform
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Dana-Farber Cancer Institute
Williams Beuren Syndrome, Williams Syndrome
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carrying other variants of 7q11.23…
- Conditions
- Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7
- Trial name
- NCT06930417
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Neurofibromatosis Type 1, Pediatric Brain Tumor
Neurofibromatosis Type 1 Brain Tumor Genetic Risk
This study will analyze DNA samples to determine associations between maternal and offspring genetic factors and pediatric brain tumor development in children with Neurofibromatosis Type 1.
- Trial name
- NCT01707836
- Where
- United States
- Volunteers
- 176 people
- Sponsor
- Washington University School of Medicine
Carbohydrate Intolerance
Effect of Genetic Variation in Starch-digesting Enzymes on Digestibility and Glycemic Index of Cold and Hot Rice
This study evaluates the effect of different methods of preparation (cooked and consumed hot vs cooked, cooled overnight and consumed cold) and variation in the activity of salivary amylase on the glycemic index and carbohydrate…
- Trial name
- NCT03667963
- Testing
- Glucose, Glucose plus lactulose, Hot Rice
- Where
- Canada
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Toronto
Persistent Pulmonary Hypertension of the Newborn
PTGS1 Genetic Variation and Increased Risk for Persistent Pulmonary Hypertension of the Newborn
The purpose of this study is to determine if normally occurring variations in a specific gene called PTGS-1 are associated with an increased risk of narrowing of the ductus arteriosus from exposure to over-the-counter pain…
- Trial name
- PPHN (NCT00710177)
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Medical College of Wisconsin
Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue, Pyoderma Gangrenosum
Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin Diseases. After collecting informed consent, all patients' clinical phenotype is graded at inclusion with a detailed case report form and a…
- Conditions
- Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue, Pyoderma Gangrenosum, Erosive Pustular Dermatosis of the Scalp, Sweet's Syndrome
- Trial name
- NEUTROGENE (NCT01952275)
- Testing
- Collection of biological samples
- Where
- Switzerland
- Volunteers
- 600 people
- Sponsor
- University of Zurich