Clinical trials: Genetic Variation
Malaria,Falciparum, Malaria in Pregnancy
Plasmodium Falciparum Genomic Intelligence in Mozambique
Mozambique is among the ten countries with the highest burden of malaria worldwide, with an estimated 9.3 million cases in 2018, and constitutes a core target for the World Health Organization (WHO) and the Roll Back Malaria…
- Conditions
- Malaria,Falciparum, Malaria in Pregnancy, Malaria
- Trial name
- GenMoz (NCT05306067)
- Testing
- LDH-based malaria rapid diagnostic test, Malaria rapid diagnostic test
- Where
- Mozambique
- Volunteers
- 21,848 people, healthy volunteers welcome
- Sponsor
- Centro de Investigacao em Saude de Manhica
Non Alcoholic Fatty Liver Disease
Genetics of Fatty Liver Disease in Children
This is a study to investigate genetic predisposition to hepatic steatosis and the expression of gluconeogenic and lipogenic genes in livers of obese children and adolescents.
- Trial name
- NCT01966627
- Testing
- ogtt, genotyping, abdominal and liver magnetic resonance imaging
- Where
- United States
- Volunteers
- 381 people
- Sponsor
- Yale University
Granulomatous Disease, Chronic, X-linked, Variant
Lentiviral Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD)
Chronic Granulomatous Disease (CGD) is a rare inherited disorder in which patients suffer from severe infection and inflammation. The first indication of disease usually appears in early childhood.
- Trial name
- NCT01381003
- Testing
- pCCLchimGp91s lentiviral vector transduced CD34+ cells infusion
- Where
- United Kingdom
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Friedreich Ataxia
A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential…
- Trial name
- NCT04255680
- Testing
- Buccal Swabs and Blood Draws
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Larimar Therapeutics, Inc.
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
Neurodevelopmental Disorders, Intellectual Disability
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Autism Spectrum Disorder, Genetic Diseases, Inborn
- Trial name
- LEOPARD (NCT07884227)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Giannina Gaslini
Cardiovascular Diseases, Heart Diseases
Racial Variation in ACE--Genetic and Physiologic Bases
To determine whether differences in the activity of the renin-angiotensin and bradykinin systems are involved in the pathogenesis of blood pressure variation in African Americans.
- Conditions
- Cardiovascular Diseases, Heart Diseases, Hypertension
- Trial name
- NCT00005757
- Volunteers
- 293 people
- Sponsor
- Vanderbilt University
Rotavirus, Diarrhea
Response to Rotavirus Vaccine in Infants in Ho Chi Minh City in Vietnam
The primary objective is to measure the effect of host human genetics on the resulting immunological responses and long-term protection following rotavirus immunization of a study population of infants in Ho Chi Minh City…
- Trial name
- NCT03587389
- Testing
- Rotarix vaccine
- Where
- Vietnam
- Volunteers
- 818 people, healthy volunteers welcome
- Sponsor
- Oxford University Clinical Research Unit, Vietnam
Fabry Disease
Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease
This is a long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants
- Trial name
- NCT04049760
- Testing
- migalastat HCl 150 mg
- Where
- 6 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Amicus Therapeutics
Autism, Autism Spectrum Disorder
Autism Genomics Sweden - Genetic Guidance and Information Trial
This observational clinical trial aims to evaluate whether providing genetic information about the origins of autism and related psychiatric disorders enhances understanding, well-being, and empowerment in adolescents and young…
- Conditions
- Autism, Autism Spectrum Disorder, ADHD - Attention Deficit Disorder With Hyperactivity, Depression Anxiety Disorder
- Trial name
- AuGeS-GV (NCT06740760)
- Testing
- Genetic counselling, Leaflet
- Where
- Sweden
- Volunteers
- 63 people
- Sponsor
- Karolinska Institutet
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
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
Diabetic Nephropathy
Sex-specific Association With Kidney Disease
Oxidative stress is involved in the pathophysiology of diabetic nephropathy. The superoxide-generating nicotinamide adenine dinucleotide phosphate-oxidase 2 (NOX2, encoded by the CYBB gene) and the antioxidant enzyme glutathione…
- Trial name
- NCT01810822
- Where
- Brazil
- Volunteers
- 1,396 people
- Sponsor
- University of Sao Paulo General Hospital
Congenital Malformations
Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic Abnormality
Congenital malformations result from an embryonic or foetal developmental disorder (DD) affecting one or more systems (cardiac, skeletal, nervous, etc.). These are referred to as multiple congenital anomalies (MCAs).
- Trial name
- CARTOGEN-N (NCT07370792)
- Testing
- blood sample
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Céline PEBREL-RICHARD
ALL, Childhood, Pediatric Cancer
Pharmacogenomic Association Study in Indian Children With Acute Lymphoblastic Leukemia
A five-year prospective observational cohort study. The study is focused on observing the relation between static germline variants and therapeutic response in Indian children with acute lymphoblastic leukemia (ALL).
- Conditions
- ALL, Childhood, Pediatric Cancer, Toxicity, Drug, Adverse Drug Event
- Trial name
- MPGx-INDALL (NCT05512169)
- Where
- 2 sites in India
- Volunteers
- 556 people
- Sponsor
- University of Geneva, Switzerland
Thromboembolic Events
Association of Genetic Variants With Risk of Stroke in Patients With Atrial Fibrillation Off-anticoagulation
Life-long therapy with oral anticoagulants (OAC) is strongly recommended in AF patients receiving left atrial appendage isolation (LAAI) to prevent thromboembolic (TE) events.
- Trial name
- GSAF (NCT04115436)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Texas Cardiac Arrhythmia Research Foundation
Kidney Cancer
Studying Biomarkers in Samples From Younger Patients With Wilms Tumor
RATIONALE: Studying samples of tissue and urine from patients with cancer in the laboratory may help doctor learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01542333
- Testing
- gene expression analysis, proteomic profiling, reverse transcriptase-polymerase chain reaction
- Volunteers
- 20 people
- Sponsor
- Children's Oncology Group
Neurofibromatosis Type 1, Legius Syndrome
Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1)
This study may identify genes that predict the seriousness of neurofibromatosis type 1 (NF1). Finding these genes may explain why some people with NF1 have more medical problems than others.
- Trial name
- NCT00111384
- Where
- United States
- Volunteers
- 313 people
- Sponsor
- National Cancer Institute (NCI)
Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6
Natural History Study of Batten Disease
This is a multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities…
- Conditions
- Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN3
- Trial name
- NCT04644549
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Emily de los Reyes
Cancer
Genome Sequencing of Human Cancer Tissues
The goal of this study is to develop a new, local system that will use special tests based on patients' genetic makeup to better tailor cancer care at the University of New Mexico Cancer Center.
- Trial name
- NCT02105545
- Testing
- Cancer Treatment Options
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- New Mexico Cancer Research Alliance