Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Part of paid clinical trials in Miami, Florida.

Sponsor
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Study ID
NCT03458962
Status
Recruiting
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Conditions

  • Genetic Disease
  • Genetic Syndrome

Eligibility Criteria

Sex
ALL
Age
N/A - 21 Years
Healthy Volunteers
Not accepted

Interventions

  • Genetic Enrollees — GENETIC
    Identification of new genetic diagnoses in children with multiple congenital anomalies, developmental delay, autism, seizures, intellectual disabilities, neurodegenerative disorders and metabolic illness. Samples and data will be stored in a pediatric biorepository. A subset of samples will undergo genetic/genomic analysis.

Study Details

The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.

Key Dates

Start date
Feb 20, 2018
Status verified
Nov 2024
Primary completion
Mar 31, 2070
Completion
Mar 31, 2070

Study Design

Enrollment
1,000 participants (estimated)

Arms

  • Arm: Genetic Enrollees
    Enrollment of patients for whom WGS may be beneficial. Patients who are ill and for whom a genetic diagnosis is suspected but not yet established.

Primary Outcome Measure

Number of patients enrolled per year [ Time Frame: Yearly throughout study completion up to 50 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Nickalus Children's Hospital f/k/a Miami Children's HospitalMiamiFlorida33155
Jenny Esteves, MBA/MHSA
[email protected]
786-624-2854
Michelin Janvier, CRC
[email protected]
786-624-3534
Parul Jayakar, MD (PRINCIPAL_INVESTIGATOR)

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By research site
Nickalus Children's Hospital f/k/a Miami Children's Hospital· Miami, FL

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