Clinical trials: Sequence Analysis
Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease
Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases.
- Conditions
- Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease, Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases., Hematopoiesis Maintainance.
- Trial name
- NCT01995305
- Testing
- human whole exome, whole genomic
- Where
- China
- Sponsor
- Xiaofan Zhu
Primary Immuno-Deficiencies
Evaluation of the Efficacy of the Sequencing Method by Gene-panel
In order to accelerate the identification of genes responsibles of PID, and to improve the diagnosis of PID, the research team would like to validate a rapid and targeted method of high-throughput sequencing, on 301 genes, known…
- Trial name
- Génétique-DIH (NCT02954640)
- Testing
- Blood sampling
- Where
- France
- Volunteers
- 115 people
- Sponsor
- Imagine Institute
Hereditary Disease, Genetic Predisposition to Disease
Genomic Sequencing for Childhood Risk and Newborn Illness
The Genomic Sequencing for Childhood Risk and Newborn Illness (the BabySeq Project) is a research study exploring the use of genomic sequencing in newborns. The National Institutes of Health is funding this study.
- Trial name
- NCT02422511
- Testing
- Genomic sequencing, Family history report
- Where
- 2 sites in United States
- Volunteers
- 1,205 people
- Sponsor
- Brigham and Women's Hospital
Sarcoma
Studying DNA in Tumor Tissue Samples From Patients With Localized or Metastatic Osteosarcoma
RATIONALE: Studying samples of tumor tissue and blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01062438
- Testing
- DNA analysis, RNA analysis, gene expression analysis
- Volunteers
- 99 people
- Sponsor
- Children's Oncology Group
Eczema Herpeticum
Etiology of Eczema Herpeticum (EH)
Atopic dermatitis, also called eczema, is a disease with dry, scaly, itchy skin. Those with atopic dermatitis may have complications from skin infections such as eczema herpeticum after herpes simplex virus (HSV) infection.
- Trial name
- NCT03038932
- Where
- United States
- Volunteers
- 69 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Cancer, NGS
Performance Indicators and Impact on the Care Pathway of Sequencing on the SeqOIA and AURAGEN (Seqogen) Platforms for Oncology Patients
As part of the French Genomic Medicine Plan 2025 (FGM), the SeqOIA and AURAGEN platforms were selected to perform high-throughput genomic sequencing.
- Conditions
- Cancer, NGS, Tumor, RARE DISEASE
- Trial name
- SONCO (NCT07147465)
- Where
- 3 sites in France
- Volunteers
- 3,149 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Streptococcus Pneumoniae Carriage, Pneumococcal Colonization
Whole Genome-Based Surveillance of Nasopharyngeal Pneumococcal Carriage in Vietnamese Children
This hospital-based cross-sectional study aims to determine the prevalence and serotype distribution of nasopharyngeal Streptococcus pneumoniae carriage among children aged 2-59 months hospitalized with acute respiratory symptoms…
- Conditions
- Streptococcus Pneumoniae Carriage, Pneumococcal Colonization, Acute Respiratory Symptoms
- Trial name
- NCT07562529
- Where
- Vietnam
- Volunteers
- 530 people
- Sponsor
- Phuc Huu Phan
Hemoglobinopathies, Hemolysis
Clinical and Laboratory Investigation of Humans With Informative Iron or Erythroid Phenotypes
This study will examine blood for factors that may cause or prevent diseases involving iron or red blood cells. Iron is an important nutrient for human health that is needed to produce red blood cells.
- Conditions
- Hemoglobinopathies, Hemolysis, Iron Deficiency and Overload, Anemias
- Trial name
- NCT00102245
- Where
- United States
- Volunteers
- 334 people, healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis
Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases
This project aims to identify, through RNA-Seq technology, the genetic alterations underlying undiagnosed rare diseases in pediatric and adult patients with early onset and with negative WES.
- Conditions
- Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, Autosomal Dominant Polycystic Kidney, Healthy
- Trial name
- ANTHEM (NCT05996731)
- Testing
- Skin biopsy
- Where
- Italy
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Child Language
Genetic Biomarkers Associated With Child Language Development in Taiwan
A study of the relation between genetic biomarkers and child language development in Taiwan.
- Trial name
- NCT04518787
- Where
- Taiwan
- Volunteers
- 596 people, healthy volunteers welcome
- Sponsor
- Chang Gung Memorial Hospital
Heart Defects, Congenital
Genetics of Ventriculo-arterial Discordance
Number of centres planned : 16 centres in France Type of study / Study design : Research Involving the Human Person category 2. Multicentric. Prospective Planning of the study : Total duration: 57,5 months.
- Trial name
- PreciPed (NCT05330338)
- Testing
- Genetic analyses: whole genome sequencing
- Where
- 16 sites in France
- Volunteers
- 600 people
- Sponsor
- Nantes University Hospital
Lynch Syndrome
Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria
The purpose of this study is to find out the proportion of patients diagnosed with Lynch syndrome in colorectal cacner patients meeting Chinese Lynch syndrome criteria.
- Trial name
- NCT03046849
- Testing
- next-generation sequencing
- Where
- 3 sites in China
- Volunteers
- 100 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Hypertension;Nephropathy
Whole Exome Sequencing in CKD Hypertension
The prevalence of hypertension in patients with CKD in China is high but the control rate is low. Compared with the single blood pressure measurement method of the blood pressure of the office, ambulatory blood pressure…
- Trial name
- WESCH (NCT03718585)
- Testing
- whole exome sequencing analysis
- Where
- China
- Volunteers
- 4,000 people
- Sponsor
- Fifth Affiliated Hospital, Sun Yat-Sen University
Kidney Rejection Transplant
Molecular Transcriptomics in Diagnosing Pediatric Kidney Transplant Rejection: the PANDA-Kids-ATLAS Study
Children with kidney failure have markedly increased mortality and face repeated transplantation over their lifetime due to limited allograft half-life (12-15 years).
- Trial name
- NCT07091214
- Where
- France
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Paris Translational Research Center for Organ Transplantation
Cancer Childhood
Ultrafast Whole Genome Sequencing for Childhood Cancer
Cambridge University Hospitals NHS Foundation Trust (CUHNFT) is the Principal Treatment Centre for the East of England region, responsible for 120-150 patients <16 years with a new diagnosis of paediatric malignancy annually;…
- Trial name
- UF-WGS (NCT07201038)
- Where
- United Kingdom
- Volunteers
- 50 people
- Sponsor
- University of Cambridge
Inherited Retinal Dystrophy, Retinitis Pigmentosa
Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
Inherited retinal dystrophies (IRDs), a large group of heterogeneous and rare disorders, may result in irreversible bilateral visual loss and blindness.
- Conditions
- Inherited Retinal Dystrophy, Retinitis Pigmentosa, Macular Dystrophy
- Trial name
- NCT05793515
- Testing
- whole genome sequencing
- Where
- Italy
- Volunteers
- 120 people
- Sponsor
- Istituto Superiore di Sanità
Glioma
Glioma Patients Registry Based on Radiological, Histopathological and Genetic Analysis
This prospective study aims to collect clinical, radiological, pathological, molecular and genetic data including detailed clinical parameters, MR and histopathology images, molecular pathology and genetic sequencing data.
- Trial name
- NCT04220424
- Testing
- MR and Histopathology images based prediction of molecular pathology and patient survival
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- The First Affiliated Hospital of Zhengzhou University
Full Gene Sequences of c-KIT、PDGFRA and DOG1 Are Analyzed With the Screening-sequencing Approach, Investigate the Characteristics and Variations Associated With the Different Gene Mutations of c-KIT、PDGFRA and DOG1 in GIST Patients
Study on the Evolution of Genes Mutation Related With Gastrointestinal Stromal Tumors
Mutations of tumor-related genes are dynamic. Gastrointestinal stromal tumor cells often are obviously more invasive in case of recurrence.
- Trial name
- NCT01505205
- Volunteers
- 60 people
- Sponsor
- Guangxi Medical University
Orofacial Clefts, Next Generation Sequencing (NGS)
Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping
Orofacial clefts, the most common congenital craniofacial malformations, have a complex etiology involving an interaction between genetic and environmental factors.
- Conditions
- Orofacial Clefts, Next Generation Sequencing (NGS), Optical Genome Mapping
- Trial name
- CARTOFENTE (NCT06880094)
- Testing
- blood withdrawal
- Where
- France
- Volunteers
- 26 people
- Sponsor
- Centre Hospitalier Universitaire, Amiens
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