Actively Recruiting

Age: 0 - 21Years
All Genders
NCT03458962

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Led by Nicklaus Children's Hospital f/k/a Miami Children's Hospital · Updated on 2024-11-07

1000

Participants Needed

1

Research Sites

2714 weeks

Total Duration

On this page

Sponsors

N

Nicklaus Children's Hospital f/k/a Miami Children's Hospital

Lead Sponsor

R

Rady Pediatric Genomics & Systems Medicine Institute

Collaborating Sponsor

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Who Can Participate

Age: 0 - 21Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Symptomatic male or female children ages 0-21 who have an unknown medical condition thought to have an underlying genetic cause after parental consent has been obtained.
  • Willingness of referring provider or other qualified medical staff member to participate in this study by facilitating collection of biologic specimens and clinical information.
  • Patient whose medical condition can be reasonably attributed to a possible genetic etiology.
  • Patient have had at least one diagnostic test without a definite diagnosis.
Not Eligible

You will not qualify if you...

  • Unwillingness to consent to research.
  • Affected adults (>21 years of age), unless they are a biological relative of the affected child.
  • Any patient whose medical condition cannot be reasonably attributed to a possible genetic etiology or there is a prior diagnosis that explains the child's clinical presentation.

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Nickalus Children's Hospital f/k/a Miami Children's Hospital

Miami, Florida, United States, 33155

Actively Recruiting

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Research Team

D

Diana Soler, CRC

CONTACT

J

Jenny Esteves, MBA/MHSA

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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Diagnostic Odyssey: Whole Genome Sequencing (WGS) | DecenTrialz