Clinical trials: Sequence Analysis
Hereditary Spastic Paraplegia, Neurodegenerative Diseases
Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders.
- Conditions
- Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle
- Trial name
- NCT05354622
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Boston Children's Hospital
Leukemia
Studying DNA in Samples From Younger Patients With Down Syndrome and Acute Myeloid Leukemia Treated on COG-AAML0431 Clinical Trial
RATIONALE: Studying samples of blood, tissue, and bone marrow from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01507441
- Testing
- gene mapping, microarray analysis, mutation analysis
- Volunteers
- 10 people
- Sponsor
- Children's Oncology Group
DNA Sequencing, Diagnosis of Genetic Diseases of Heterogeneous Origin
Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic Diseases
The advent of high throughput genomic DNA sequencing has led to major advances in the diagnosis of genetic diseases of heterogeneous origin.
- Trial name
- NCT03971292
- Testing
- RNA sequencing
- Where
- France
- Volunteers
- 15 people
- Sponsor
- University Hospital, Strasbourg, France
Infection Viral
RNA Sequencing of Individual Versus Wastewater - SARS-CoV2
The aim is to compare the percentage of the different SARS-CoV2 lineages that are detected in wastewater samples with matched clinical samples.
- Trial name
- Cagablea (NCT05041764)
- Testing
- NO INTERVENTION
- Where
- 2 sites in France
- Volunteers
- 1,409 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
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
Williams Beuren Syndrome, Autism Spectrum Disorder
Molecular Characterization of Patients Affected by Williams Syndrome and Autism.
Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness…
- Trial name
- WBA (NCT04095585)
- Testing
- chromosomal microarray analysis (CMA) and whole exome sequencing (WES)
- Volunteers
- 6 people
- Sponsor
- Hospices Civils de Lyon
Newborn Screening Programmes for Rare Diseases
A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel-based Solo Genome Sequencing in France
Newborn Screening (NBS) based on genome sequencing (GS) is currently the subject of particular attention at both European and international levels.
- Trial name
- PGC1 (NCT06875089)
- Testing
- pGS-NBS, Satisfaction questionnaire, interview with HSS researcher
- Where
- 5 sites in France
- Volunteers
- 5,000 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Cystic Fibrosis
Lum-Iva-biota: Exploring the Respiratory Mycobiota and Microbiota Profile in French CF Patients Taking Lumacaftor-Ivacaftor
n2015, VERTEX company - producing already KALYDECO (IVACAFTOR, VX-770) potentiator molecule that is recommended for the treatment of CF patients aged ≥ 6 y, with CFTR mutation altering the channel regulation (class III mutations)…
- Trial name
- Lum-Iva-Biota (NCT03565692)
- Testing
- the lung mycobiota and microbiota profile, the gut mycobiota and microbiota profile
- Where
- 8 sites in France
- Volunteers
- 250 people
- Sponsor
- University Hospital, Bordeaux
Intellectual Disabilities, Congenital Anomaly
Genome Medical Sequencing for Gene Discovery
Background: A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown.
- Conditions
- Intellectual Disabilities, Congenital Anomaly, Rare Disorders
- Trial name
- NCT01087320
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Newborn; Infection
Pilot Study - Monitoring the Nasal Microbiome and Viral Respiratory Infections in Newborn Hospitalized in Neonatalogy.
The objective of our study is therefore to study the evolution of the respiratory microbiome of hospitalized newborns, its interaction with viral infections and their impacts on the evolution of newborns.
- Trial name
- NEONATMICROBIO (NCT06389383)
- Testing
- Nasal Swab
- Where
- France
- Volunteers
- 38 people
- Sponsor
- University Hospital, Caen
Respiratory Distress Syndrome, Newborn
ABCA3 Gene and RDS in Late Preterm and Term Infants
Respiratory distress syndrome (RDS) is the most common respiratory cause of mortality and morbidity in very preterm infants, but it also could be seen in late preterm and term infants.
- Trial name
- NCT04137783
- Testing
- no intervention
- Where
- China
- Volunteers
- 39 people
- Sponsor
- Children's Hospital of Chongqing Medical University
Acid Base Disorder
Rapid Diagnostics for Genetic Disorders in Neonates
The goal of this study is to test a prototype genomic blood analysis for identifying rare diseases in infants hospitalized in the neonatal intensive care unit (NICU).
- Trial name
- NCT07005700
- Testing
- Targeted genomic sequencing
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Sharp HealthCare
Whole Exome Sequencing, Rare Diseases
PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing
Using long-read sequencing (LRS) technology to achieve molecular diagnosis in patients with rare genetic diseases who have already been tested by state-of-the-art genetic analysis with ambiguous or negative results.
- Trial name
- PREDICT-LRS (NCT06796751)
- Testing
- DNA/RNA sequencing and bioinformatic data analysis
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Severe Intellectual Disability
Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
Evaluation of diagnostic whole exome sequencing in patients with syndromic or isolated severe intellectual disability without a molecular diagnostic, with suspected autosomal recessive inheritance, allowing accurate genetic…
- Trial name
- SHD-DI (NCT02862808)
- Where
- France
- Volunteers
- 18 people
- Sponsor
- Centre Hospitalier Universitaire de Besancon
Movement Disorder, Cognitive Decline
Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
In the study, NextGen SE are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions : Primary…
- Trial name
- NextGen-SE (NCT02588638)
- Where
- Germany
- Volunteers
- 100 people
- Sponsor
- University Hospital Tuebingen
Severe Acute Respiratory Infection
Viral Etiology of Severe Acute Respiratory InFection in CriticallY Ill Patients Registry
SARI is a major public health problem in Saudi Arabia and leads to considerable morbidity and mortality. Most SARI-related mortality occurs in patients admitted to ICUs across the country.
- Trial name
- VERIFY (NCT06627166)
- Where
- Saudi Arabia
- Volunteers
- 13 people
- Sponsor
- King Abdullah International Medical Research Center
Lymphoma, Large B-Cell, Diffuse
Non-invasive Tumor Immunoglobulin Gene Next Generation Sequencing (IgNGS) in Diffuse Large B Cell Lymphoma (DLBCL)
This study will evaluate IgNGS at different time points in newly diagnosed DLBCL patients homogeneously treated (RCHOP) to address its correlation with conventional techniques (i.e., positron emission tomography/computed…
- Trial name
- NCT04237168
- Testing
- IgNGS from circulating tumor DNA
- Where
- Spain
- Volunteers
- 30 people
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Rare Diseases
Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas
The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border.
- Trial name
- MAGNET (NCT07102966)
- Testing
- Rapid whole genome sequencing
- Where
- United States
- Volunteers
- 410 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Human Leukocyte Antigens (HLA)
Clinical Protocol SeCore, uTYPE and 3500 Dx System
The purpose of this study is to compare the Invitrogen SeCore(R) sequencing system and uTYPE(R) interpretation software to the predicate device Invitrogen SSP UniTray(R) with UniMatch(R) interpretation software and show 95%…
- Trial name
- NCT01285427
- Volunteers
- 300 people
- Sponsor
- Life Technologies Corporation
Atopy, Primary Immunodeficiency
NIAID Centralized Sequencing Protocol
Background: Genetic testing called "sequencing" helps researchers look at DNA. Genes are made of DNA and are the instructions for our bodies to function. We all have thousands of genes.
- Conditions
- Atopy, Primary Immunodeficiency, Autoimmunity, Autoinflammation
- Trial name
- NCT03206099
- Where
- 2 sites in United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)