Clinical trials: Genetic Variation, active
Psoriasis, Psoriatic Arthritis
Genetic Variation in TRAF3IP2 (rs13190932)
Psoriasis is an immune-mediated inflammatory disease that is highly prevalent worldwide, affecting approximately 2-3% of the world population.
- Trial name
- NCT07086924
- Testing
- Methotrexate
- Where
- Egypt
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- South Valley University
Non-small Cell Lung Cancer (NSCLC), EGFR-TKI Resistant Mutation
A Retrospective Study of EGFR-TKIs,Gefitinib, Erlotinib and Osimertinib in NSCLC Patients Treatment
For patients of advanced NSCLC (non small cell lung cancer) , Individualized cancer therapy has been widely accepted since the success of crizotinib administration based on EML4-ALK fusion gene detection and gefitinib and…
- Conditions
- Non-small Cell Lung Cancer (NSCLC), EGFR-TKI Resistant Mutation, EGFR-TKI Sensitizing Mutation, Germline Mutations
- Trial name
- NCT01994057
- Where
- China
- Volunteers
- 1,000 people
- Sponsor
- Sun Yat-sen University
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease
The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.
- Trial name
- NCT06747572
- Where
- 45 sites in United States, Belgium and 7 more
- Volunteers
- 401 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Congenital Heart Disease
Genetics of Congenital Heart Disease
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown.
- Trial name
- NCT01192048
- Testing
- Blood Sample Collection
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital
Metabolic Diseases, Diabetes Mellitus (Type 2)
Specificities of Atypical Non AutoImmune Diabetes (ANAID) in the French West Indies
Genetics variants could be involved in atypical non-autoimmune diabetes revealed by ketoacidosis. The objective of this research will be to determine the relationships between the genetic variants already described in known…
- Conditions
- Metabolic Diseases, Diabetes Mellitus (Type 2), Genetic Variation, Genetic Profile
- Trial name
- DiAGeNA (NCT07576374)
- Where
- Guadeloupe
- Volunteers
- 118 people
- Sponsor
- Centre Hospitalier Universitaire de la Guadeloupe
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
Neuromuscular Diseases, Limb Girdle Muscular Dystrophy
3 Year Follow up on ANO5 Patients
The aim of the study is to investigate progression in muscle affection in patients with pathogenic variants in the anoctamin 5 gene to: 1. investigate possible progression of disease over time 2.
- Trial name
- NCT05206617
- Testing
- No intervention - pure observational study
- Where
- Denmark
- Volunteers
- 17 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Depression, Depressive Disorder
Metformin as Adjunct Therapy in Depression-obesity Comorbidity: Clinical and Genetic Evaluation
The patients with depression and obesity will receive add-on metformin with antidepressant therapy, which may result in greater improvement in depressive symptoms and BMI reduction compared to antidepressant monotherapy.
- Conditions
- Depression, Depressive Disorder, Overweight or Obesity, Depressive Symptoms
- Trial name
- NCT07654179
- Testing
- Metformin, Antidepressant Therapy
- Where
- 2 sites in Pakistan
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Advanced Solid Tumor, Adult, ERBB2 Altered Breast Cancer
A Study of a Selective ERBB2 Inhibitor (CGT4255), in Patients With Advanced Solid Tumors
This is an open-label, phase 1/1b study evaluating the safety, tolerability, pharmacokinetic (what the body does to the drug), pharmacodynamic (what the drug does to the body), and antitumor activity of CGT4255 in adult…
- Conditions
- Advanced Solid Tumor, Adult, ERBB2 Altered Breast Cancer, ERBB2 Gene Amplification, HER2 Overexpression
- Trial name
- NCT07361562
- Testing
- CGT4255
- Where
- 15 sites in United States
- Volunteers
- 100 people
- Sponsor
- Cogent Biosciences, Inc.
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
Non-alcoholic Fatty Liver, Atherogenic Dyslipidemia
Genetic Pathways Leading to Fatty Liver and Atherogenic Dyslipidemia
The aims of the study are: 1. To investigate if carriers of apolipoprotein (apo) CIII loss-of-function (LOF) mutations produce less apo-CIII that results in reduction of large very low-density lipoprotein (VLDL) particle…
- Conditions
- Non-alcoholic Fatty Liver, Atherogenic Dyslipidemia, Insulin Resistance
- Trial name
- VARKIN (NCT04209816)
- Testing
- Lipoprotein kinetics
- Where
- 2 sites in Finland, Sweden
- Volunteers
- 100 people
- Sponsor
- Marja-Riitta Taskinen
Breast Cancer Surgery
Long-term Safety of Nipple Sparing Mastectomy in Women With High Penetrance Breast Cancer Susceptibility Genes in Breast Cancer
Patients with a germline pathogenic variant (GPV) in high-penetrance breast cancer susceptibility genes who are considering risk reducing mastectomy (RRM) often strongly desire to keep their nipple areola complex but inquire as…
- Trial name
- NSM (NCT06888388)
- Testing
- Nipple Sparing Mastectomy (NSM), Skin-Sparing Mastectomy (SSM), Total (Simple) Mastectomy
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 4,700 people
- Sponsor
- Sir Mortimer B. Davis - Jewish General Hospital
Mucopolysaccharidosis IH
Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant
This is a phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human α-L-iduronidase gene for the treatment of…
- Trial name
- TigetT10_MPSIH (NCT03488394)
- Testing
- Frozen autologous CD34+ hematopoietic stem and progenitor cells genetically modified with the lentiviral vector IDUA LVV, encoding for the α-L-iduronidase cDNA, in their final formulation medium.
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Orchard Therapeutics
Genetics, Population
Population Genomic Diversity of France
Having access to DNA sequences from individuals that share common ancestry with patients is of interest when analysing individual genomes for diagnoses.
- Trial name
- POPGEN (NCT04183023)
- Testing
- Collection of a salivary sample
- Where
- France
- Volunteers
- 10,250 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
CLN6, Batten Disease
Gene Therapy Trial for CLN6 Batten Disease
The goal of this clinical trial is to learn if a gene therapy called scAAV9.CB.CLN6 can treat children with CLN6 Batten disease (variant late infantile neuronal ceroid lipofuscinosis).
- Conditions
- CLN6, Batten Disease, Batten's Disease, Neuronal Ceroid Lipofuscinosis CLN6
- Trial name
- NCT07582484
- Testing
- scAAV9.CB.CLN6 (dose: 1.5E14 vector genomes)
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- The Charlotte and Gwenyth Gray Foundation
Hypochondroplasia
An Interventional Study of Infigratinib in Children With Hypochondroplasia
ACCEL2/3 is a Phase 2/3 study. The purpose of the Phase 2 portion of the study (ACCEL2/3) is to evaluate the efficacy and safety of infigratinib in children with hypochondroplasia (HCH) receiving infigratinib at one of two doses…
- Trial name
- HCH (NCT06873035)
- Testing
- infigratinib 0.128 mg/kg/day, infigratinib 0.25 mg/kg/day
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 24 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Sickle Cell, PKLR Variants
Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and Adenosine Triphosphate Activities in Red Blood Cells of People With Sickle Cell Disease
Background: Some people with the same disorder on a genetic level have more complications than others. Researchers want to look for a link between the PKLR gene and sickle cell disease (SCD) symptoms.
- Conditions
- Sickle Cell, PKLR Variants, Adenosine Triphosphate Activities
- Trial name
- NCT03685721
- Where
- United States
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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
Rare Diseases, Genetic Disease
Structural Chromosome Rearrangements and Brain Disorders
The project is focused on the detailed study of structural genomic variants (SVs). Such genetic mutations are in fact alterations in the DNA molecule structure and include copy number variants, inversions and translocations.
- Conditions
- Rare Diseases, Genetic Disease, Chromosome Abnormality
- Trial name
- NCT06072079
- Where
- Sweden
- Volunteers
- 10,000 people
- Sponsor
- Karolinska Institutet
Intrahepatic Cholangiocarcinoma (Icc), Cholangiocarcinoma
A Study of an FGFR2/3 Inhibitor (CGT4859) in Patients With Cholangiocarcinoma and Other Advanced Solid Tumors
This is an open-label, phase 1/2 study evaluating the safety, tolerability, pharmacokinetic (what the body does to the drug), pharmacodynamic (what the drug does to the body), and antitumor activity of CGT4859 in adult…
- Conditions
- Intrahepatic Cholangiocarcinoma (Icc), Cholangiocarcinoma, Other Solid Tumors, Adult, FGFR2 Gene Fusion/Rearrangement
- Trial name
- NCT06777316
- Testing
- CGT4859
- Where
- 13 sites in United States, Canada
- Volunteers
- 110 people
- Sponsor
- Cogent Biosciences, Inc.