Clinical trials: Next-generation Sequencing
Arterial Calcification Due to Deficiency of CD73
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching…
- Trial name
- NCT00369421
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Primary Melanoma of the Extremity
The Registry Study of Genetic Alterations of Melanoma in Taiwan
Cutaneous melanoma is the most aggressive malignancy in skin cancers. Cutaneous melanoma is a rare disease in Taiwan with an incidence rate of around 1/100,000.
- Trial name
- Melanoma (NCT06952400)
- Where
- 16 sites in Taiwan
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- National Health Research Institutes, Taiwan
Acute Myeloid Leukemia, Myelodysplastic Syndromes
Screening Gene Mutations in Myeloid Cancers by Next Generation Sequencing to Improve Treatment Results
Genetic mutations have closely linked to the pathogenesis and prognostication of myeloid cancers. In addition, a number of molecularly targeted agents have been developed in recent years.
- Conditions
- Acute Myeloid Leukemia, Myelodysplastic Syndromes, Myeloproliferative Neoplasm, Aplastic Anemia
- Trial name
- NCT04060485
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Staphylococcus Aureus, Next Generation Sequencing
MSSA and MRSA Screening in Patients Undergoing Elective TJA: the Benefits of Next-generation Sequencing
The aims of this study were to evaluate the diagnostic performance of molecular and culture techniques in S. aureus screening using paired nasal and groin swabs, to determine, if any, discrepancy between the diagnostic techniques…
- Conditions
- Staphylococcus Aureus, Next Generation Sequencing, Total Joint Arthroplasty
- Trial name
- NCT04574752
- Testing
- next generation sequencing
- Where
- United States
- Volunteers
- 163 people, healthy volunteers welcome
- Sponsor
- Rothman Institute Orthopaedics
Type 2 Diabetes Mellitus (T2DM), Necrotic Pulp
Photodynamic Therapy in Root Canal Treatment of T2DM Patients: Microbiome Analysis Via Next-Gen Sequencing
This clinical study investigates the effectiveness of antimicrobial photodynamic therapy (aPDT) as an additional disinfection method in root canal treatment of patients with Type 2 Diabetes Mellitus (T2DM) who have apical…
- Conditions
- Type 2 Diabetes Mellitus (T2DM), Necrotic Pulp, Apical Periodontitis
- Trial name
- NCT06931678
- Testing
- aPDT
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Saglik Bilimleri Universitesi
Familial Lipomatosis, Very Rare Dermatologic Diseases
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
- Trial name
- DERMA-SEQ (NCT02509650)
- Where
- 2 sites in France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Pregnancy Related
Prenatal Analysis of Cell-free Circulating Fetal DNA
In criminal cases involving sexual assault, victims may later discover they are pregnant, creating profound uncertainty about the paternity of the fetus.
- Trial name
- APAFLC (NCT06864806)
- Testing
- Genetic profile
- Where
- France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Vector-Borne Diseases, Emerging Pathogens
Febrile Disease Landscape in Cambodia Via Metagenomic Pathogen Sequencing
Background: Vector-borne diseases are caused by the bite of an infected mosquito, fly, flea, tick, or other blood-feeder. These diseases cause almost 1 million deaths per year.
- Trial name
- NCT04034264
- Where
- 6 sites in Cambodia
- Volunteers
- 6,500 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Intellectual Disability
Genome Sequencing Strategies for Genetics Diagnosis of Patients With Intellectual Disability
Introduction : Intellectual Disability (ID) is the most common cause of referral in the pediatric genetic centers and is characterized by an extreme genetic heterogeneity corresponding to a myriad of rare diseases that…
- Trial name
- DEFIDIAG (NCT04154891)
- Testing
- Whole Genome Sequencing
- Where
- 14 sites in France
- Volunteers
- 3,825 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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
Vagina Disease, Vaginal Community State Type
Baseline Study of Vaginal Microbiota in Healthy Chinses Female Population
The reproductive tract microecology is an important part of the human microbial system. Microorganisms and the host reproductive tract environment form a stable symbiotic relationship.
- Trial name
- BSOVM (NCT04887636)
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Subfertility
Preimplantation Genetic Testing for Aneuploidy of Polar Bodies
This study intends to randomly group the patients with advanced maternal age and poor ovarian response, and the study group will undergo polar body biopsy, and the next-generation sequencing(NGS) technology will be used to…
- Trial name
- NCT04538560
- Testing
- polar body biopsy
- Where
- China
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Reproductive & Genetic Hospital of CITIC-Xiangya
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
Spinal Infection, Diagnositic Efficacy
Diagnostic Efficacy of Metagenomic Next-generation Sequencing in Patients With Spinal Infections: A Retrospective Study
Comparing the diagnostic efficacy between traditional laboratory methods and second-generation high-throughput sequencing in patients suspected of spinal infections.
- Trial name
- NCT06172153
- Testing
- No interventions
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Sun Yat-Sen Memorial Hospital of 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
Non-small Cell Lung Cancer
A Prospective Study of Constructing Immune Repertoire to Monitor the Therapeutic Effect in NSCLC Patients
This study is designed to evaluate the untreated NSCLC patients. After participants have accepted chemotherapy, radiotherapy, and immunotherapy, the investigators used the next generation sequence technology (NGS) to construct…
- Trial name
- NCT03373955
- Testing
- pembrolizumab
- Where
- China
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Sichuan University
Female Pelvic Floor Dysfunction
The Study of Genes Localization for Female Pelvic Floor Dysfunction
Female pelvic floor dysfunction (FPD) is due to defects in the pelvic support structures, degradation, damage or dysfunction. The main problem of which is pelvic organ prolapse(POP), urinary incontinence(UI) and genital tract…
- Trial name
- PFD POP UI (NCT02166528)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Zhiqing, Liang
Recurrence, Metastasis
Clinical Relevance of NGS Analysis for High-purity CTC From Cancer Patients With Disruptive Gene Mutation(s)
Distant metastasis of cancer remains the major cause of cancer death. One of the evidence is that some rare cells shed from primary tumor exist in the circulation of cancer patients, which has been proven to be related to cancer…
- Conditions
- Recurrence, Metastasis, Death
- Trial name
- NCT03002350
- Where
- Taiwan
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Chang Gung Memorial Hospital
Low Von Willebrand Factor
Genetic Background of Patients With Low Von Willebrand Factor Levels
Von Willebrand disease (VWD) is caused by either quantitative or qualitative von Willebrand (VWF) defects and is the commonest inherited bleeding disorder with an estimated prevalence of about 1% in the general population.
- Trial name
- LOVMIC (NCT05116501)
- Testing
- Whole-exome sequencing
- Where
- Italy
- Volunteers
- 254 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Malaria, Falciparum Malaria
Malaria Molecular Surveillance in Mozambique (Phase 2)
Mozambique is among the ten countries with the highest burden of malaria worldwide, with an estimated 10.3 million cases in 2021.
- Conditions
- Malaria, Falciparum Malaria, Malaria in Pregnancy
- Trial name
- GenMoz2 (NCT06529237)
- Testing
- LDH-based malaria rapid diagnostic test, Malaria rapid diagnostic test
- Where
- Mozambique
- Volunteers
- 18,750 people, healthy volunteers welcome
- Sponsor
- Centro de Investigacao em Saude de Manhica