Rare Diseases Clinical Trial
Official title:
NICUSeq: A Prospective Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants
Prospective, multi-site, study to evaluate the clinical utility of cWGS in a proband. One group will receive cWGS and a clinical report approximately 15 days after blood samples are received, while the other group will continue to receive standard of care until Day 60. The standard of care group will receive cWGS and a clinical report at Day 60 as part of secondary and tertiary analyses. Both groups will be followed for a total of 90 days.
This is a prospective, multi-site, randomized study to evaluate the clinical utility of cWGS in each proband. Throughout this study, each proband will receive SOC testing as determined by the site clinical team. Upon enrollment in the study, each proband will be randomly assigned to the 15 day cWGS group or the SOC group. SOC is defined as the management of the proband's care under the same or similar conditions as if the proband was not enrolled in this study. A blood sample from each enrolled proband will be collected and shipped to the Illumina Clinical Services Laboratory ("ICSL"), which is Clinical Laboratory Improvement Amendments (CLIA)-certified and College of American Pathologists (CAP)-accredited. ICSL will conduct cWGS testing with the TruGenome Undiagnosed Disease Test ("TruGenome Test"). The TruGenome Test cWGS results will be provided to the Principal Investigator (PI) or designee who will evaluate each proband test outcome based on the aggregate medical information, informed by the cWGS or SOC results. ;
Status | Clinical Trial | Phase | |
---|---|---|---|
Recruiting |
NCT05794217 -
A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives
|
||
Completed |
NCT03680365 -
Your Voice; Impact of Duchenne Muscular Dystrophy (DMD) on the Lives of Families
|
||
Not yet recruiting |
NCT05955794 -
Vocal Pattern Assessment as a New Key to Identifying Rare Syndromes
|
N/A | |
Recruiting |
NCT04429750 -
Intact Cord Resuscitation in CDH
|
N/A | |
Not yet recruiting |
NCT04152876 -
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
|
||
Recruiting |
NCT03683966 -
MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
|
||
Not yet recruiting |
NCT04319796 -
European Registry on Rare Neurological Diseases
|
||
Completed |
NCT02736565 -
Pbi-shRNAâ„¢ EWS/FLI1 Type 1 LPX in Subjects With Advanced Ewing's Sarcoma
|
Phase 1 | |
Completed |
NCT05070988 -
Oral Health Related Quality of Life of Patients With Rare Diseases: a Qualitative Approach
|
||
Completed |
NCT03563677 -
Dual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare Diseases
|
N/A | |
Recruiting |
NCT05499091 -
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
|
N/A | |
Completed |
NCT03954652 -
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"
|
N/A | |
Recruiting |
NCT05703893 -
Investigation of the Neurovegetative Pattern in Patients With Thoracic Aortic Aneurysms (TAA)
|
||
Enrolling by invitation |
NCT04703179 -
Rare and Undiagnosed Disease Research Biorepository
|
||
Recruiting |
NCT04024774 -
Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases
|
||
Recruiting |
NCT06343558 -
Gait and Balance Impairment in Rare and Very Rare Neurological Diseases
|
||
Not yet recruiting |
NCT06412718 -
Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
|
||
Enrolling by invitation |
NCT04654000 -
Rheopheresis as Adjuvant Treatment of Calciphylaxis
|
N/A | |
Recruiting |
NCT04651439 -
Severe Bullous Drug Eruption and Filgrastim
|
Phase 2/Phase 3 | |
Recruiting |
NCT03491280 -
Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
|