Clinical trials: Genome
Neurodevelopmental Disorder (Diagnosis)
Expanding NGS Data with Optical Genome Mapping (OGM)
Over 50% of pediatric neurological and neurodevelopmental disorders lack a molecular diagnosis after standard DNA sequencing and molecular karyotyping.
- Trial name
- OGM (NCT06851377)
- Testing
- Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS), Trascriptome analysis
- Where
- Italy
- Volunteers
- 60 people
- Sponsor
- IRCCS Eugenio Medea
Undiagnosed Conditions, Rare Disorders
Gene Discovery Core, The Manton Center
The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions.
- Conditions
- Undiagnosed Conditions, Rare Disorders, Orphan Diseases
- Trial name
- NCT02743845
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Boston Children's Hospital
Neoplasms, Cancer
Omics of Cancer: OncoGenomics
Background: Cancer is a leading cause of death in the United States. Researchers want to know more about how cancer develops and grows. They want to understand more about cancers that run in families.
- Trial name
- NCT05431439
- Where
- United States
- Sponsor
- National Cancer Institute (NCI)
Neurodevelopmental Disorders
Omic Approaches to Neurodevelopmental Disabilities
to bridge the gap between the molecular structure of CNV and the effect on the phenotype, considering NDDs as complex diseases, as they are a consequence of the imbalance in several dosage-sensitive genes, we might try to…
- Trial name
- NCT06337396
- Testing
- WGS and transcriptome analysis
- Where
- Italy
- Volunteers
- 22 people
- Sponsor
- IRCCS Eugenio Medea
Cluster Detection
CLUSTER Trial for Outbreak Detection and Response
Despite the critical importance of identifying hospital-associated outbreaks as early as possible in order to limit their spread, there are currently no standardized methods for cluster detection.
- Trial name
- CLUSTER (NCT04053075)
- Testing
- Routine cluster detection, Enhanced cluster detection
- Where
- 82 sites in United States
- Volunteers
- 2,905,455 people
- Sponsor
- Harvard Pilgrim Health Care
Genetic Blood Group (bg) Polymorphism in U Negativity and St(a) of MNSs
Whole Genome Sequencing for Blood Group Genotyping and Definition as Exemplified on U- and St(a)+.
No health condition(s) are studied. Genetic background of blood groups is studied. U- and Stones(a)+ ("Caucasian type") are used as proof-of-principle samples.
- Trial name
- Blood Genome (NCT02534519)
- Testing
- Whole Genome Sequencing (WGS)
- Where
- Switzerland
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Blood Donation Service Zurich, SRC
Non-small Cell Lung Cancer
The Recurrence Gene Profiles of Adjuvant Osimertinib Therapy in Resected Non-Small-Cell Lung Cancer
This study was a multicenter, real-world observational study aimed at characterizing the genomic landscape of recurrence in patients with EGFR-sensitizing mutation-positive early-stage (clinical stage IB-IIIA) non-small cell lung…
- Trial name
- RAISE (NCT06477055)
- Where
- 2 sites in China
- Volunteers
- 43 people
- Sponsor
- Hunan Province Tumor Hospital
Inherited Retinal Dystrophy, Retinitis Pigmentosa
Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
Inherited retinal dystrophies (IRDs), a large group of heterogeneous and rare disorders, may result in irreversible bilateral visual loss and blindness.
- Conditions
- Inherited Retinal Dystrophy, Retinitis Pigmentosa, Macular Dystrophy
- Trial name
- NCT05793515
- Testing
- whole genome sequencing
- Where
- Italy
- Volunteers
- 120 people
- Sponsor
- Istituto Superiore di Sanità
Hypertrophic Cardiomyopathy, Hypertrophic Obstructive Cardiomyopathy
Hypertrophic Cardiomyopathy Registry, Biobank and Imaging Data Repository
The Hearts in Rhythm Organization (HiRO) is a national network of Canadian researchers/clinicians, working towards a better understanding of the rare genetic causes of sudden cardiac death (SCD).
- Conditions
- Hypertrophic Cardiomyopathy, Hypertrophic Obstructive Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Cardiomyopathies
- Trial name
- HiRO-HCM (NCT05100420)
- Where
- 17 sites in Canada
- Volunteers
- 2,000 people
- Sponsor
- Montreal Heart Institute