Clinical trials: Exome Analysis
Rare Diseases, Genetic Predisposition
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"
The GENOME FIRST APPROACH project will enroll patients (n = 450) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and the healthy parents of those affected for trio…
- Trial name
- NCT03954652
- Testing
- WGS-Diagnostic
- Where
- Germany
- Volunteers
- 1,350 people
- Sponsor
- University Hospital Tuebingen
Infant, Newborn, Disease, Genetic Disease
Genome Sequencing in the Intensive Care Unit Population
The purpose of this study is to understand how the use of whole genome sequencing (WGS) may be able to increase the speed with which a diagnosis is made for patients in an intensive care unit population.
- Trial name
- PISCES (NCT04848090)
- Testing
- Neonate WGS Testing
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Jerry Vockley, MD, PhD
Pulmonary Dysfunction
Early Pulmonary Dysfunction in Childhood Cancer Patients
This longitudinal, prospective, multicentre study is to monitor lung function prospectively in childhood cancer patients after diagnosis.
- Trial name
- SWISS-Pearl (NCT05427136)
- Testing
- Lung function measurements, Breath Analysis, Magnetic resonance imaging (MRI)
- Where
- 5 sites in Switzerland
- Volunteers
- 140 people
- Sponsor
- University Children's Hospital Basel
Undiagnosed Disease
Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community
This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do population genetic studies looking at…
- Trial name
- NCT02927158
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Hypertension;Nephropathy
Whole Exome Sequencing in CKD Hypertension
The prevalence of hypertension in patients with CKD in China is high but the control rate is low. Compared with the single blood pressure measurement method of the blood pressure of the office, ambulatory blood pressure…
- Trial name
- WESCH (NCT03718585)
- Testing
- whole exome sequencing analysis
- Where
- China
- Volunteers
- 4,000 people
- Sponsor
- Fifth Affiliated Hospital, Sun Yat-Sen University
Rare Diseases, Genetic Predisposition to Disease
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome…
- Trial name
- NCT04315727
- Testing
- WGS Diagnostic Blood take for genetic diagnostic., Hair collection
- Where
- 2 sites in Germany
- Volunteers
- 100 people
- Sponsor
- University Hospital Tuebingen
Neurodevelopmental Disorders, Intellectual Disability
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Autism Spectrum Disorder, Genetic Diseases, Inborn
- Trial name
- LEOPARD (NCT07884227)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Giannina Gaslini
Hearing Impairment
Exome Analysis in Hearing Impaired Patients
Hearing impairment is the most frequent sensory deficit in humans and affects one newborn out of 500. The prevalence rises to 3,5/1000 in teenagers due to retarded forms.
- Trial name
- NGS-NSHL (NCT03557879)
- Testing
- Exome sequencing
- Where
- France
- Volunteers
- 30 people
- Sponsor
- University Hospital, Montpellier