Clinical trials: Genome
Acute Lymphoblastic Leukemia
Whole Genome Sequencing (ChromoSeq®) for Acute Lymphoblastic Leukemia (ALL) Patients
This is a prospective data collection study evaluating the feasibility of using the ChromoSeq® assay for upfront classification in a real-time clinical setting of pediatric and young patients suspected of having ALL.
- Trial name
- NCT07313592
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Washington University School of Medicine
Severe Acute Malnutrition
Ready to Use Therapeutic Food (RUTF) in Severe Malnourished Children
1. RUTF would be more effective (quicker catch-up growth by promoting more tissue accrue resulting decrease stay in rehabilitation ward) in treating children with SAM during the rehabilitation phase than khichuri /halwa; 2.
- Trial name
- RUTF (NCT01331044)
- Testing
- Plumpy Nut, Khichuri and Halwa
- Where
- Bangladesh
- Volunteers
- 224 people, healthy volunteers welcome
- Sponsor
- International Centre for Diarrhoeal Disease Research, Bangladesh
Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH)
Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
Congenital portosystemic shunt (CPSS) are rare vascular malformations causing blood from the intestines to bypass the liver and directly flow into body's general circulation.
- Conditions
- Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH), Congenital Portosystemic Shunt
- Trial name
- Gen-PoPH-CPSS (NCT07314814)
- Testing
- targeted gene panels analysis, whole genome analysis
- Where
- Switzerland
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Prof. Valérie Mc Lin
Central Nervous System Neoplasms, Pediatric Cancer
Pediatric Prospective Personalized Immune and Target Identification Trial
PPROSPERITIT is a prospective clinical study assessing the use of comprehensive molecular profiling to define the best matching targeted and immune treatment for relapsed, refractory or very high risk pediatric CNS tumors.
- Conditions
- Central Nervous System Neoplasms, Pediatric Cancer, GEN1 Gene Mutation, Tumor, Brain
- Trial name
- PPROSPERITIT (NCT04859543)
- Testing
- FoundationOneHeme
- Where
- 3 sites in Austria, Czechia
- Volunteers
- 80 people
- Sponsor
- Masaryk University
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
Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation
Rucaparib in Treating Patients With Genomic LOH High and/or Deleterious BRCA1/2 Mutation Stage IV or Recurrent Non-small Cell Lung Cancer (A Lung-MAP Treatment Trial)
This phase II Lung-MAP trial studies how well rucaparib works in treating patients with genomic loss of heterozygosity (LOH) high and/or deleterious BRCA1/2 mutation stage IV non-small cell lung cancer or that has come back.
- Conditions
- Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, Loss of Heterozygosity, Lung Non-Small Cell Squamous Carcinoma
- Trial name
- NCT03845296
- Testing
- Rucaparib
- Where
- 950 sites in United States
- Volunteers
- 64 people
- Sponsor
- SWOG Cancer Research Network
Coronary Heart Disease, Type 2 Diabetes
Returning Genome and Metabolome Data to FinTerveys 2017 Participants: P5.fi FinTerveys Study
P5.fi study - P4 together with a fifth 'P' and '.fi' for population health Finally Implemented in Finland - studies the value of returning genetic and metabolomic risk information in two diseases (coronary heart disease and type…
- Conditions
- Coronary Heart Disease, Type 2 Diabetes, Deep Vein Thrombosis
- Trial name
- P5 (NCT03650127)
- Where
- Finland
- Volunteers
- 3,449 people, healthy volunteers welcome
- Sponsor
- Markus Perola
Autoimmune Encephalitis
GWAS in NMDAR Encephalitis
Autoimmune encephalitis are characterized by the subacute development of memory deficits, altered mental status, and psychiatric symptoms, generally in association with anti-neuronal antibodies.
- Trial name
- NCT05225883
- Testing
- GWAS
- Where
- France
- Volunteers
- 2,000 people
- Sponsor
- Hospices Civils de Lyon
Sequence Analysis
Analysis of Tumor Mutations and Tumor Microenvironment Using Archival Paraffin-embedded Tumor Specimens
Genomic alterations have long been recognized as an important factor in tumor formation and drive tumor cell growth. However, the degree of genomic mutation (tumor mutation load, TMB) varies widely between tumors.
- Trial name
- NCT03719222
- Testing
- non intervention
- Where
- Taiwan
- Volunteers
- 600 people
- Sponsor
- ACT Genomics
Childhood Acute Basophilic Leukemia, Childhood Acute Eosinophilic Leukemia
Biomarkers in Bone Marrow Samples From Pediatric Patients With High-Risk Acute Myeloid Leukemia
This pilot research trial studies biomarkers in bone marrow samples from pediatric patients with high risk acute myeloid leukemia.
- Conditions
- Childhood Acute Basophilic Leukemia, Childhood Acute Eosinophilic Leukemia, Childhood Acute Erythroleukemia (M6), Childhood Acute Megakaryocytic Leukemia (M7)
- Trial name
- NCT01076569
- Testing
- laboratory biomarker analysis
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- Children's Oncology Group
Neurodevelopmental Disabilities, Emotional Regulation
Emotional Regulation in Children With ND: the Role of Genomic Variation, Proteomic Patterns, and Early Experience
Children with neurodevelopmental disabilities (ND) represent an heterogeneous population characterized by a wide range of clinical diagnoses (e.g., cerebral palsy, sensory impairment, psychomotor retardation), which are…
- Conditions
- Neurodevelopmental Disabilities, Emotional Regulation, Epigenetics, Parental Factors
- Trial name
- NCT05004090
- Testing
- DNA methylation analysis, Proteomics analysis, Still Face Paradigm
- Where
- Italy
- Volunteers
- 248 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Gastric Cancer (GC)
Development and Validation of the Surgical Assessment and Healthcare (SAH) Index for Gastric Cancer Treatment Evaluation
This study develops the Surgical Assessment and Healthcare (SAH) Index, a new tool to fairly evaluate gastric cancer surgery outcomes.
- Trial name
- SAH (NCT07180966)
- Where
- China
- Volunteers
- 780 people
- Sponsor
- Ruijin Hospital
Rare Genetic Disease
Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia.
- Trial name
- ARNseqFibroSan (NCT07075107)
- Testing
- Blood collection, skin biopsy
- Where
- France
- Volunteers
- 62 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Advanced Lung Non-Squamous Non-Small Cell Carcinoma, Recurrent Lung Non-Squamous Non-Small Cell Carcinoma
Combination Treatment (Talazoparib Plus Avelumab) for Stage IV or Recurrent Non-Squamous Non-Small Cell Lung Cancer With STK11 Gene Mutation (A LUNG-MAP Treatment Trial)
This phase II LUNG-MAP treatment trial studies how well combination treatment (talazoparib plus avelumab) works in treating patients with non-squamous non-small cell lung cancer that has an STK11 gene mutation and has come back…
- Conditions
- Advanced Lung Non-Squamous Non-Small Cell Carcinoma, Recurrent Lung Non-Squamous Non-Small Cell Carcinoma, Stage IV Lung Cancer AJCC v8, Stage IVA Lung Cancer AJCC v8
- Trial name
- NCT04173507
- Testing
- Avelumab, Talazoparib, Talazoparib Tosylate
- Where
- 325 sites in United States
- Volunteers
- 47 people
- Sponsor
- SWOG Cancer Research Network
Bronchial Asthma, Genome Wide Association Studies
The Role of Genetic Factors in the Development of Bronchial Asthma in the Kazakh Population
To research for a genetic marker of bronchial asthma, a single nucleotide polymorphism (SNP) analysis of DNA obtained from the peripheral blood of patients with bronchial asthma and normal control will be performed.
- Trial name
- NCT05088512
- Testing
- SNP analysis of the DNA
- Where
- Kazakhstan
- Volunteers
- 300 people
- Sponsor
- Asfendiyarov Kazakh National Medical University
Genetic Disease, Genetic Syndrome
Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study
This is a pilot study involving a prospective group of 15 evaluable patients who will undergo rapid whole genome sequencing in addition to standard of care testing.
- Trial name
- NCT03918707
- Testing
- Rapid Whole Genome Sequencing (rWGS)
- Where
- United States
- Volunteers
- 115 people
- Sponsor
- University of Illinois College of Medicine at Peoria
Rare Diseases, Genetic Disease
UW Undiagnosed Genetic Diseases Program
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through…
- Conditions
- Rare Diseases, Genetic Disease, Undiagnosed Disease
- Trial name
- NCT04586075
- Testing
- Trio Whole Genome Sequencing and Participant-Specific Research
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- University of Wisconsin, Madison
Haematological Malignancy, Malignant Neoplasm
DETERMINE Trial Treatment Arm 01: Alectinib in Adult, Paediatric and Teenage/Young Adult Patients With ALK Positive Cancers
This clinical trial is looking at a drug called alectinib. Alectinib is approved as standard of care treatment for adult patients with certain types of lung cancer.
- Conditions
- Haematological Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders, Neoplasms by Histologic Type
- Trial name
- DETERMINE (NCT05770037)
- Testing
- Alectinib
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Breast Tumor
Analysis of Prognostic and Predictive Genomic Signatures Using Archival Paraffin-embedded Tumor Specimens in Breast Cancer
Major Aims of study: 1. To create a gene expression-based prognostic device that complements or exceeds the prognostic utility of conventional biomarkers of breast cancer outcome. 2.
- Trial name
- NCT01247480
- Where
- Singapore
- Sponsor
- National University Hospital, Singapore
Preimplantation Genetic Diagnosis
Genome-wide Single Cell Haplotyping as a Generic Method for Preimplantation Genetic Diagnosis
The investigators previously developed approaches to SNP-, CNV- and haplo-type single human cells (Vanneste et al. 2009, Nature Medicine).
- Trial name
- NCT01336400
- Testing
- single cell haplotyping
- Where
- Belgium
- Volunteers
- 60 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven