Clinical trials: Genetic Variation
Malaria, Falciparum Malaria
Malaria Molecular Surveillance in Mozambique (Phase 2)
Mozambique is among the ten countries with the highest burden of malaria worldwide, with an estimated 10.3 million cases in 2021.
- Conditions
- Malaria, Falciparum Malaria, Malaria in Pregnancy
- Trial name
- GenMoz2 (NCT06529237)
- Testing
- LDH-based malaria rapid diagnostic test, Malaria rapid diagnostic test
- Where
- Mozambique
- Volunteers
- 18,750 people, healthy volunteers welcome
- Sponsor
- Centro de Investigacao em Saude de Manhica
DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people.
- Trial name
- NCT00556530
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Albert Einstein College of Medicine
Childhood Obesity
Whole-exome Sequencing in Childhood Obesity
Obesity is a complex multifactorial disease where genetics play an important role in predisposing children to early onset obesity.
- Trial name
- NCT02418377
- Where
- 2 sites in Singapore
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- National University of Singapore
Chronic Lung Disease
Genetic Variants and Susceptibility to Diseases of Prematurity in Very Low Birth-Weight Infants
The purpose of this study is to determine if sequence variations in genes involved in the development and function of vulnerable organs increases susceptibility to chronic lung disease (CLD) and other diseases affecting premature…
- Trial name
- CLD (NCT00710112)
- Testing
- gene variations
- Where
- United States
- Volunteers
- 1,100 people
- Sponsor
- Medical College of Wisconsin
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
Von Willebrands Disease
Investigating a Von Willebrand Factor (VWF) Functional Screening Assay for Assigning the Phenotypic Variants of Von Willebrand Disease (VWD)
The purpose of this study is to improve the investigators ability to diagnose von Willebrand Disease (VWD), a common inherited bleeding disorder.
- Trial name
- VWF-phV (NCT02466789)
- Where
- United States
- Volunteers
- 134 people
- Sponsor
- Jonathan Roberts
GM1 Gangliosidosis, GM2 Gangliosidosis
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2).
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease
- Trial name
- RETRIEVE (NCT04470713)
- Where
- 17 sites in United States, Belgium and 8 more
- Volunteers
- 226 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
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
Gangliosidoses, GM1 Gangliosidosis
Registry Gangliosidoses
The clinical project "Eight At One Stroke: Attention Gangliosidoses" represents a clinical registry for recording the clinical manifestation and the disease progression of gangliosidoses.
- Conditions
- Gangliosidoses, GM1 Gangliosidosis, Morquio B Disease, Sialidosis
- Trial name
- NCT04624789
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt)
Focal Segmental Glomerulosclerosis
A Study to Find Out if BI 764198 Helps Adults and Adolescents With a Kidney Condition Called Focal Segmental Glomerulosclerosis (FSGS)
PODOMOUNT-pFSGS This study is open to adults and adolescents with a kidney condition called focal segmental glomerulosclerosis (FSGS).
- Trial name
- NCT07220083
- Testing
- BI 764198
- Where
- 316 sites in United States, Argentina and 38 more
- Volunteers
- 286 people
- Sponsor
- Boehringer Ingelheim
Keloid
Genetic Analysis of Keloids
Keloids have a strong genetic component. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for keloids or contribute to keloid scarring.
- Trial name
- NCT01619553
- Where
- United States
- Volunteers
- 7,000 people
- Sponsor
- UConn Health
Genetics, Genetic Disease
Personalized Genomic Research
Background: Congenital malformations, sometimes called birth defects, occur because of a difference in early human development. There are many different types of congenital malformations, and some of these can be caused by…
- Conditions
- Genetics, Genetic Disease, Genetic Linkage, Birth Defects
- Trial name
- NCT01294345
- Where
- United States
- Volunteers
- 353 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hemophilia
Gait Examination in Patients With Hemophilia in Austria
Hemophilia is an inherited disease caused by deficiency in varying degrees of clotting factors VIII and IX. Depending on the percentage of clotting factor in the blood the disease is categorized as "severe" (<1%, characterized by…
- Trial name
- JOSEPHA (NCT03541811)
- Testing
- 3-d gait examination (level walking), Anthropometrics and body composition assessment, Biomarkers
- Where
- Austria
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Hochschule Campus Wien (University of Applied Sciences Campus Vienna)
Klinefelter Syndrome, Trisomy X
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early…
- Conditions
- Klinefelter Syndrome, Trisomy X, XYY Syndrome, XXXY and XXXXY Syndrome
- Trial name
- NCT03396562
- Testing
- Assessments of Development and Growth
- Where
- 2 sites in United States
- Volunteers
- 300 people
- Sponsor
- University of Colorado, Denver
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)
Psuedomas Infection, Cystic Fibrosis
The Role of Bacteria and Genetic Variations in Cystic Fibrosis
This study will examine 1) the role of hereditary factors in cystic fibrosis; i.e., the relationship of the disease to specific gene variations, and 2) the role of bacterial products involved in lung infections substances…
- Trial name
- NCT00043225
- Where
- 4 sites in United States
- Volunteers
- 76 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Radiation Exposure
Relationship of Genetic Differences to the Development of Chromosome Abnormalities
This is a collaborative study by the National Cancer Institute, Columbia University, and the Southern Urals Biophysics Institute in Russia.
- Trial name
- NCT00481793
- Where
- Russia
- Volunteers
- 361 people
- Sponsor
- National Cancer Institute (NCI)
Febrile Seizure
Anthropogenetic Variability in the Group of Individuals With Febrile Seizures
Febrile seizures(FS) are the most common neurological disorder in chilhood and are a great stress for parents due to their dramatic clinical appearance.
- Trial name
- NCT03481764
- Testing
- HRC-test
- Where
- Serbia
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Institut za Rehabilitaciju Sokobanjska Beograd
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
Pediatric SDLT CNS Disorders
Investigation of Individualised Antisense Oligonucleotides (ASOs) in People With Unique Genetic Variants Causing Severely Debilitating, Life Threatening (SDLT) Central Nervous System (CNS) Conditions
This study is being conducted to evaluate individualised antisense oligonucleotides (ASOs) in participants with severely debilitating, life threatening (SDLT) central nervous system (CNS) conditions caused by unique genetic…
- Trial name
- EOM-MP1 (NCT07410143)
- Testing
- Individualized ASO
- Where
- United Kingdom
- Volunteers
- 1 people
- Sponsor
- EveryONE Medicines Inc.