Clinical trials: Next Generation Sequencing
Intellectual Disability
Research and Characterization of New Genes Involved in Intellectual Disability
Intellectual disability (ID) occurs in 2 to 3 % of the general population but the cause is identified only in 30 to 60% of cases.
- Trial name
- GeneDefi (NCT01867554)
- Testing
- gene analysis
- Where
- France
- Volunteers
- 8,500 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Colorectal Cancer, APC Gene Mutation
Patogenic Mutation in 5 Genes
This is a pathogenic mutation profile of colorectal patients specifically in 5 genes, i.e. APC, TP53, PIK3CA, KRAS, and MLH1. Single nucleotide variants identified were synchronized with patients' characteristics.
- Conditions
- Colorectal Cancer, APC Gene Mutation, TP53 Gene Mutation, PIK3CA Gene Mutation
- Trial name
- NCT04976439
- Testing
- co-occuring mutation
- Where
- Indonesia
- Volunteers
- 22 people
- Sponsor
- Dr Cipto Mangunkusumo General Hospital
Preterm Birth
Study of the Risk of PREMaturité According to the Balance of Bacterial Flora VAginale
Objective To compare vaginal microbiota in the first trimester of pregnancy between spontaneous preterm and term deliveries
- Trial name
- PREMEVA2 (NCT03618836)
- Testing
- Microbiological and biological patterns on vaginal samples
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- University Hospital, Lille
NSCLC
ctDNA Dynamic Monitoring and Its Role of Prognosis in Stage II to IIIA NSCLC by NGS
The second generation of high-throughput gene sequencing (NGS) is an important means of detecting the tumor DNA and circulating tumor DNA (ctDNA), which can detect trace ctDNA from smaller plasma samples.
- Trial name
- NCT03465241
- Testing
- the ctDNA dynamic monitoring
- Where
- China
- Volunteers
- 119 people
- Sponsor
- Sun Yat-sen University
Infertility
Cumulative Live Birth Rate With eSET After Preimplantation Genetic Screening Versus Conventional In-vitro Fertilization
The purpose of this randomized clinical trial is to compare the efficacy and safety with transfer of embryos selected by next generation sequencing (NGS) versus conventional morphological criteria.
- Trial name
- CESE-PGS (NCT03118141)
- Testing
- blastocyst morphologic score, blastocyst biopsy and sequencing, freeze-all and single thawed blastocyst transfer
- Where
- China
- Volunteers
- 1,215 people
- Sponsor
- Chen Zi-Jiang
Uveitis, Diabetic Retinopathy
Biomarkers of Common Eye Diseases
To identify biomarkers of common eye diseases based on single-cell sequencing technologies using PBMC samples. These diseases include uveitis, diabetic retinopathy, age-related macular degeneration and polypoid choroidal…
- Conditions
- Uveitis, Diabetic Retinopathy, Age-related Macular Degeneration, Polypoidal Choroidal Vasculopathy
- Trial name
- NCT04101604
- Testing
- Collection of blood samples
- Where
- China
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- Sun Yat-sen University
Exhaled Breath Condensate, Athlete
Small RNA Profiling in EBC in Athletes
Background: Exhaled breath condensate (EBC) is a non-invasively collected biofluid containing volatile and non-volatile compounds, including small RNAs.
- Conditions
- Exhaled Breath Condensate, Athlete, RNA Profile, Cardio-pulmonary Function
- Trial name
- AirBiopsy (NCT07324252)
- Where
- Poland
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Medical University of Bialystok
Solid Tumor, Unspecified, Adult
Tissue Collection for Correlation Between ATM Alterations by Next-Generation Sequencing and ATM Loss-of-Protein
This study examines the correlation between ATM alterations identified using NGS profiles with ATM protein expression levels from tumor tissue assessed by IHC.
- Trial name
- ATM (NCT04976803)
- Testing
- Determination of ATM alteration status.
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 229 people
- Sponsor
- Artios Pharma Ltd
Non-Small Cell Lung Cancer, Squamous Non-small-cell Lung Cancer
A Study of Sapanisertib in Relapsed/Refractory NFE2L2-Mutated and Wild-Type Squamous Non-Small Cell Lung Cancer
This is a multicenter, randomized, open-label Phase 2 study of sapanisertib in biomarker-defined populations of sqNSCLC. Patients with NFE2L2 (the name for gene encoding the protein called NRF2)-mutated or wild-type sqNSCLC…
- Conditions
- Non-Small Cell Lung Cancer, Squamous Non-small-cell Lung Cancer, Squamous Non-Small Cell Neoplasm of Lung, NFE2L2 Gene Mutation
- Trial name
- NCT05275673
- Testing
- sapanisertib
- Where
- 14 sites in United States
- Volunteers
- 7 people
- Sponsor
- Faeth Therapeutics
Solid Tumor, Adult, Next-generation Sequencing
Study of Pazopanib Combined With Palbociclib for Refractory Solid Tumors With Co-amplified in the 11q13(FGF3/4/19/CCND1)
The efficacy and safety of Pazopanib combined with Palbociclib in the third line and above treatment of refractory solid tumors co amplified in the 11q13 region (FGF3/4/19/CCND1).
- Conditions
- Solid Tumor, Adult, Next-generation Sequencing, Precision Medicine
- Trial name
- NCT06895733
- Testing
- Pazopanib Oral Tablet, Palbociclib
- Where
- China
- Volunteers
- 65 people
- Sponsor
- Tianjin Medical University Second Hospital
Lung Cancer, Brain Metastases
A Study of the Gene Mutation Status in Cerebrospinal Fluid, Blood and Tumor Tissue of Non-small Cell Lung Cancer Patients With Brain Metastases
Primary lung cancer is one of the most common malignancies in China, with 57 percent of patients being diagnosed at advanced stage. At present, advanced lung cancer has entered the era of precise treatment.
- Conditions
- Lung Cancer, Brain Metastases, Cerebrospinal Fluid, Next-generation Sequencing
- Trial name
- NCT03257735
- Testing
- next-generation sequencing
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Sun Yat-sen University
Acute Myeloid Leukemia
Characterization of T-cell Repertoire in Patients With Acute Myeloid Leukemia Undergoing Donor Stem Cell Transplant
This research trial studies characterization of T-cell repertoire through next-generation sequencing in patients with acute myeloid leukemia undergoing stem cell transplant.
- Trial name
- NCT03921047
- Testing
- Biospecimen Collection, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- University of Southern California
Familial Hypercholesterolemia
IN-TANDEM Familial Hypercholesterolemia Pilot Study
The purpose of this study is to validate the use of the FH Foundation FIND FH® Algorithm as a clinical decision support tool. FIND FH (Flag/Identify/Network/Engage) is a national initiative that utilizes machine learning and data…
- Trial name
- NCT03253432
- Testing
- Genetic testing
- Where
- 2 sites in United States
- Volunteers
- 378 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Carcinoma, Non-small Cell Lung Cancer (NSCLC)
Next Generation Sequencing Method for the Detection of EGFR Gene Mutations in the Plasma of Patients With Lung Cancer
The study aims to evaluate the Plasma-SeqSensei™ Solid Cancer IVD Kit NGS diagnostic test (Sysmex) before its introduction into routine diagnostics.
- Trial name
- NCT06595498
- Testing
- Plasma- SeqSensei™ Solid Cancer IVD Kit (Sysmex), cobas® EGFR Mutation Test v2 (Roche)
- Where
- Italy
- Volunteers
- 130 people
- Sponsor
- Istituto Oncologico Veneto IRCCS
Carcinoma, Non-Small-Cell Lung, Next-Generation Sequencing
Clinical Value of MRD Monitoring for Adjuvant Therapy in Postoperative NSCLC
This clinical trial aims to explore the minimal residual disease (MRD) status of early NSCLC after curative surgery and the clinical outcomes of adjuvant chemotherapy.
- Conditions
- Carcinoma, Non-Small-Cell Lung, Next-Generation Sequencing, Chemotherapy, Adjuvant, Neoplasm, Residual
- Trial name
- NCT05167604
- Testing
- Adjuvants, Pharmaceutic
- Where
- China
- Volunteers
- 150 people
- Sponsor
- Tang-Du Hospital
Rehabilitation, Pain, Shoulder
Precision Medicine for Nociception, Sngception and Proprioception.
Precision medicine is defined as "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person" by the Precision Medicine…
- Conditions
- Rehabilitation, Pain, Shoulder, Pain, Chronic, Idiopathic Scoliosis
- Trial name
- NCT06161038
- Testing
- LASER, Ultrasound, Prolotherapy
- Where
- Taiwan
- Volunteers
- 160 people
- Sponsor
- National Taiwan University Hospital
Peripheral T-cell Lymphoma, NK/T-Cell Lymphoma
Circulating Tumor DNA in Peripheral T-cell Lymphomas
The aim of this study is to evaluate the feasibility of circulating tumor DNA (ctDNA) measurement in blood plasma for the applicability in prognostication, treatment evaluation and measurable residual disease (MRD) surveillance…
- Trial name
- CIRCULATE (NCT06362148)
- Testing
- Tumor- and plasma-informed, next-generation sequencing (NGS)-based patient-specific droplet digital (dd)PCR assay, 18F-fludeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT)
- Where
- Denmark
- Volunteers
- 50 people
- Sponsor
- University of Aarhus
Preterm Labor, Preterm Birth
The FLIP-1 Study: Vaginal Lactobacillus Supplementation in Women at High Risk of Preterm Birth
Preterm birth (PTB) is the primary cause of infant death worldwide. It has been shown that a vaginal microbiota deplete in Lactobacillus species is a risk factor for preterm labour.
- Conditions
- Preterm Labor, Preterm Birth, Preterm Premature Rupture of Membrane, Cervical Incompetence
- Trial name
- NCT03992534
- Testing
- LACTIN-V
- Where
- United Kingdom
- Volunteers
- 60 people
- Sponsor
- Imperial College London
Acute Myeloid Leukemia
Diagnostic Platform to Perform Centralized and Standardized Rapid Molecular Diagnosis by Next Generation Sequencing (NGS) in Patients Diagnosed With Acute Myeloid Leukemia.
NGS studies will be done in stem cell leukemic population. The analysis of the samples to the diagnosis will be carried out using the 26 consensus genes: ASXL1 had, CBL, CEBPA, DNMT3A, EZH2, FLT3, GATA2, IDH1, IDH2, JAK2, KIT…
- Trial name
- NCT03311815
- Testing
- NGS techniques
- Where
- 7 sites in Spain
- Volunteers
- 900 people
- Sponsor
- PETHEMA Foundation
Familial Hypercholesterolemia
Genetic Causes of Hypercholesterolaemia in the Emirati Population
The scientific aims of the project are to understand the genetic basis of Familial Hypercholesterolaemia (FH) in the Emirati population and estimate the overall prevalence of the disease.
- Trial name
- NCT03597958
- Testing
- Next generation sequencing (NGS)
- Where
- United Arab Emirates
- Volunteers
- 1,000 people
- Sponsor
- Imperial College London Diabetes Centre