Clinical trials: Next Generation Sequencing
Genetic Diseases
Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality
The MENDEL-study will investigate whether the use of gene panel or whole genome sequencing (WGS) will: 1. improve the rate of diagnosis and through this compare the performance of the two diagnostic approaches (gene panel vs.
- Trial name
- MENDEL (NCT02380729)
- Testing
- Gene Panel Sequencing, Whole Genome Sequencing (WGS)
- Where
- 3 sites in Germany
- Volunteers
- 200 people
- Sponsor
- Charite University, Berlin, Germany
Encephalitis, Meningitis
Precision Diagnosis of Acute Infectious Diseases; Neuroinflammatory Cohort
This study aims to use a clinically validated metagenomic next-generation sequencing (mNGS) assay to provide a demonstration of precision medicine for diagnosis of acute infectious disease in hospitalized patients.
- Trial name
- PDAID (NCT02910037)
- Testing
- mNGS for pathogen detection
- Where
- 7 sites in United States
- Volunteers
- 214 people
- Sponsor
- University of California, San Francisco
Diseases/Diagnoses, Genetic Disease
Genomic Sequencing in Acutely Ill Neonates
The purpose of this study is to compare the effectiveness of rapid next generation sequencing (NGS, such as whole genome sequencing1) with current practice to provide diagnostic or prognostic information or treatment guidance in…
- Trial name
- NSIGHT (NCT02225522)
- Testing
- Rapid whole genome sequencing (StatSeq)
- Where
- United States
- Volunteers
- 65 people
- Sponsor
- Children's Mercy Hospital Kansas City
Holoprosencephaly
Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.
Holoprosencephaly, or HPE, is the most common congenital cerebral malformation in humans and the most severe of a group of pathologies related to a deficiency of the SHH signalling pathway (Sonic Hedgehog SHH-D).
- Trial name
- EXOMEDIANE (NCT04691414)
- Testing
- NGS
- Where
- France
- Volunteers
- 33 people
- Sponsor
- Rennes University Hospital
Intellectual Disability, Congenital Abnormalities
Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
Apparently balanced chromosomal rearrangement (ABCR) associated with an abnormal phenotype is a rare but problematic event. It occurs in 6% of de novo reciprocal translocations and 9% of de novo inversions.
- Trial name
- ANI (NCT02451761)
- Testing
- Blood sampling
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Hospices Civils de Lyon
Breast Cancer, Ovarian Cancer
Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation
Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non…
- Conditions
- Breast Cancer, Ovarian Cancer, Colorectal Cancer, Pediatric Cancers
- Trial name
- PANEL (NCT02664389)
- Testing
- Genetic analysis
- Where
- France
- Volunteers
- 289 people
- Sponsor
- University Hospital, Rouen
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
CMV Infection, Hematopoietic Stem Cell Transplantation
Letermovir for the Prevention of CMV Infection in HSCT Recipients Based on the Outcome of mNGS
Letermovir for the Prevention of CMV Infection in HSCT Recipients Based on the Outcome of mNGS
- Trial name
- NCT06021210
- Testing
- Letermovir Pill
- Where
- China
- Volunteers
- 80 people
- Sponsor
- The First Affiliated Hospital of Soochow University
Autism Spectrum Disorder
Precise Objective Automated Assessment System of Autism Spectrum Disorder From an Existing Big Cohort
The project's significance includes a big cohort of Autism spectrum disorder (ASD), originality/novelty (new approaches and technologies including next-generation sequencing, multi-echo functional MRI, metabolomics, microbiomics…
- Trial name
- NCT04875481
- Testing
- Psychiatric diagnosis, ASD diagnosis
- Where
- Taiwan
- Volunteers
- 214 people
- Sponsor
- National Taiwan University Hospital
Hepatitis B, Hepatitis B, Chronic
Assessment of Hepatitis B Virus Intra-host Population and Host-specific Immune Marker Diversity
In this project proposal, the investigators will investigate the genetic alterations of Hepatitis B Virus (HBV) strains circulating in Belgian patients who developed end stage liver disease.
- Conditions
- Hepatitis B, Hepatitis B, Chronic, End Stage Liver Disease, Carcinoma, Hepatocellular
- Trial name
- NCT02148562
- Where
- Belgium
- Volunteers
- 274 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Rare Diseases, Genetic Predisposition to Disease
Genetic Causes of Discrepant Clinic in Monogenic Twins
In the DISCO-TWIN study (prospective, open-label molecular-genetic study), twin pairs with one healthy and one affected twin with molecularly undiagnosed diseases will be analysed by means of omics technologies and/ or…
- Trial name
- DISCO-TWIN (NCT04046796)
- Testing
- NGS Diagnostic
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- University Hospital Tuebingen
Type 1 Diabetes Mellitus
Methylation of DNA in Children and Adolescents With Type 1 Diabetes Mellitus (METHYLDIAB)
Type 1 Diabetes Mellitus (T1DM) is a well-studied autoimmune disease resulting in insulin deficiency due to selective β-cell destruction.
- Trial name
- METHYLDIAB (NCT04139369)
- Where
- Greece
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Aristotle University Of Thessaloniki
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
Spina Bifida
Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing
The main objective is to improve genetic counseling in patients with Spina Bifida, by the characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.
- Trial name
- EXOSPINA (NCT02854150)
- Testing
- characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.
- Where
- France
- Volunteers
- 106 people
- Sponsor
- Rennes University Hospital
Triple Negative Breast Cancer
Cellular Immune Responses in Triple-negative Breast Cancer - High Throughput Immunogenetic Studies
This project introduces a novel methodology for the in-depth immunogenetic characterization of the TR gene repertoire in solid tumors, holding the promise to offer unprecedented insights into the TR anti-tumor specificity and the…
- Trial name
- NCT06646263
- Where
- Greece
- Volunteers
- 150 people
- Sponsor
- Institute of Applied Biosciences
HIV Infection
Pathogen Detection in HIV-infected Children With Non-malarial Febrile Illnesses Using Metagenomic Sequencing
In Uganda, 130,000 children (0-14 years of age) were living with HIV in 2018. Last year, nearly 450 infants acquired HIV every day; most of them during childbirth and these are at extremely high risk of dying in the first two…
- Trial name
- PHICAMS (NCT05085158)
- Where
- Uganda
- Volunteers
- 138 people
- Sponsor
- Makerere University
Non-small Cell Lung Cancer
Cancer Genome Atlas of China:Lung Cancer
Based on 2500 lung cancer tumor tissue samples from about 40 clinical centers in China, the molecular typing of lung cancer in China will be figured out by high throughput sequencing, which will provide the basis for the…
- Trial name
- NCT04266483
- Where
- 34 sites in China
- Volunteers
- 2,500 people
- Sponsor
- Xuanwu Hospital, Beijing
Leukemia
Genetic Test To Identify Previously Undetectable Minimal Residual Disease in Cell Samples From Younger Patients With Acute Lymphoblastic Leukemia
RATIONALE: Testing for minimal residual disease in cell samples from patients with acute lymphoblastic leukemia may help doctors plan better treatment.
- Trial name
- NCT01533168
- Testing
- cytogenetic analysis, nucleic acid sequencing, diagnostic laboratory biomarker analysis
- Volunteers
- 12 people
- Sponsor
- Children's Oncology Group
Cancer
Cost of Cancer Diagnosis Using Next-generation Sequencing Targeted Gene Panels in Routine Practice
The aim of this study was to measure the total cost of performing next-generation sequencing (NGS) in clinical practice in France, in both germline and somatic cancer genetics.
- Trial name
- NCT04656717
- Testing
- Measure of the total cost of performing next-generation sequencing (NGS)
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Congenital Hypothyroidism
Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid
Retro-prospective, exploratory, single-centre observational study conducted at the Endrocrine-Metabolic Diseases Centre of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.
- Trial name
- NCT06728735
- Where
- Italy
- Volunteers
- 350 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna