Clinical trials: Next Generation Sequencing (NGS)
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
B Cell Precursor Acute Lymphoblastic Leukemia, Pediatric
NGS MRD-Guided Blinatumomab Treatment for Pediatric B-ALL
The goal of this clinical trial is to determine whether pediatric B-cell acute lymphoblastic leukemia (B-ALL) patients with negative deep minimal residue disease (MRD) can benefit from blinatumomab treatment.
- Conditions
- B Cell Precursor Acute Lymphoblastic Leukemia, Pediatric, Minimal Residual Disease, Next Generation Sequencing (NGS)
- Trial name
- NCT06763302
- Testing
- Blinatumomab
- Volunteers
- 1,220 people
- Sponsor
- The Children's Hospital of Zhejiang University School of Medicine
Cystic Fibrosis
Perceptions of the CF Screening Protocol Incorporating NGS
Newborn bloodspot screening (from now on referred to as screening) for cystic fibrosis (CF) became part of the national screening programme in 2007. Screening for CF is also well established internationally.
- Trial name
- NCT06299566
- Where
- United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- King's College London
Non Small Cell Lung Cancer Metastatic, Newly Diagnosed NSCLC
Liquid Biopsy Based NGS in Newly Diagnosed NSCLC
This study expands the application of an electronic health record (EHR) "nudge" used to prompt physicians' clinical practice to order molecular testing at the time of initial diagnosis for patients with specific types of advanced…
- Conditions
- Non Small Cell Lung Cancer Metastatic, Newly Diagnosed NSCLC, Non-Squamous Non-Small Cell Neoplasm of Lung
- Trial name
- iNUDGE (NCT05853887)
- Testing
- iNUDGE
- Where
- 6 sites in United States
- Volunteers
- 260 people
- Sponsor
- Charu Aggarwal
Metastatic and/or High Risk Solid Tumor of Children
Use of Specific Genetic Alteration s of Tumoral Cells Identified by the Next Generation Sequencing Techniques (NGS) to Follow Peripheral Samples of Children With Metastatic and/or High Risk Solid Tumor - NGSKids
The search for genetic alterations in primary tumor by NGS techniques followed by the detection of these alterations in circulating tumor DNA and/or CTC/DTC present in peripheral samples (blood, cerebrospinal fluid, bone marrow…
- Trial name
- NGSKids (NCT02546453)
- Testing
- Tumoral specific genetic alterations
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Institut Curie
Rare Diseases, Genetic Predisposition
Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes
For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included.
- Trial name
- EXGEFATU (NCT04731857)
- Testing
- Retrospective data analysis
- Where
- Germany
- Volunteers
- 12,000 people
- Sponsor
- University Hospital Tuebingen
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
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
Classical Hodgkin Lymphoma
European Project for ctDNA Detection as a Biomarker for Non-invasive Therapy Monitoring in Paediatric Classical Hodgkin Lymphoma
Classical Hodgkin lymphoma (cHL) accounts for 15% of all cases of cancer in children and adolescents and represents the first cause of cancer during adolescence.
- Trial name
- EURHOLY (NCT07356882)
- Where
- France
- Volunteers
- 400 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Rare Diseases, Genetic Predisposition
Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpatient/ inpatient standard care at the UKT…
- Trial name
- DiRiP-RD (NCT03491280)
- Testing
- NGS Diagnostic
- Where
- Germany
- Volunteers
- 5,500 people
- Sponsor
- University Hospital Tuebingen
Pediatric, Solid Tumors, NGS
Clinical Value of Next Generation Sequencing in Chinese Childhood Solid Tumors
Samples of 200 patients with pediatric malignant solid tumors will prospectively be collected. Selected samples are sufficient for next generation sequencing(NGS) and available for follow-up information.
- Trial name
- NCT05076071
- Testing
- NGS
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Yizhuo Zhang
Leukemia
Next Generation Sequencing (NGS) in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
The aim of this study is to look for predisposing mutations in patients and relatives affected by AML and MDS with familial history of myeloid or, less frequently, lymphoid malignancies.
- Trial name
- NCT03058588
- Testing
- Analysis with molecular biology
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
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
Acute Lymphoblastic Leukemia (ALL)
Genetic Study of Familial Acute Lymphoblastic Leukemia
Familial aggregation is well recognized in some cancers. Though a number of familial cancer predisposition syndromes have been described, the nature of inherited genetic alterations in patients with a strong history of familial…
- Trial name
- NCT03067584
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- St. Jude Children's Research Hospital
Acute Myeloid Leukaemia (AML), Follicular Lymphoma ( FL)
A Longitudinal Multi-Center Molecular Biomarker Discovery Registry for Patients With Hematologic Malignancies
The TEMPUS AQUARIUS Study is a non-interventional, longitudinal observational study focused on hematological malignancies. It will collect rich molecular (multi-omic) and clinical data from patient cohorts through serial blood…
- Trial name
- Aquarius (NCT07154823)
- Testing
- None - Observational Study
- Where
- 13 sites in United States
- Volunteers
- 550 people
- Sponsor
- Tempus AI
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
Advanced Solid Tumor, Advanced Malignant Neoplasm
The Evaluation of PC14586 in Patients With Advanced Solid Tumors Harboring a TP53 Y220C Mutation (PYNNACLE)
The Phase 2 monotherapy portion of this study is currently enrolling and will evaluate the efficacy and safety of PC14586 (INN rezatapopt) in participants with locally advanced or metastatic solid tumors harboring a TP53 Y220C…
- Conditions
- Advanced Solid Tumor, Advanced Malignant Neoplasm, Metastatic Cancer, Metastatic Solid Tumor
- Trial name
- NCT04585750
- Testing
- rezatapopt, pembrolizumab
- Where
- 76 sites in United States, Australia and 7 more
- Volunteers
- 300 people
- Sponsor
- PMV Pharmaceuticals, Inc
Albinism, Ocular
NGS Panel of Incomplete Forms of Ocular Albinism
Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.
- Trial name
- DIA (NCT04495218)
- Testing
- Blood samples
- Where
- France
- Volunteers
- 53 people
- Sponsor
- University Hospital, Bordeaux
Rare Diseases, Genetic Predisposition
Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.
- Trial name
- NCT03962452
- Testing
- Next Generation Sequencing (NGS)
- Where
- Germany
- Volunteers
- 20 people
- Sponsor
- University Hospital Tuebingen
Gastrointestinal Cancer
Next-generation Sequencing in Gastrointestinal Cancer
Liquid biopsy has been successfully applied to the treatment and diagnosis of cancer. cfDNA has been paid more and more attention in liquid biopsy.
- Trial name
- NCT03476057
- Testing
- Device： NGS sequencing cfDNA
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Fujian Cancer Hospital