RECRUITING

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children

Quick Facts

Study Start:2018-02-20
Study Completion:2070-03
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT03458962

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified to 21 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT
Inclusion CriteriaExclusion Criteria
  1. * Symptomatic male or female children ages 0-21 who have un unknown medical condition thought to have an underlying genetic cause after parental consent has been obtained.
  2. * Willingness of referring provider or other qualified medical staff member to participate in this study by facilitating collection of biologic specimens and clinical information.
  3. * Patient whose medical condition can be reasonably attributed to a possible genetic etiology.
  4. * Patient have had at least one diagnostic test without a definite diagnosis.
  1. * Unwillingness to consent to research.
  2. * Affected adults (\>21 years of age), unless they are a biological relative of the affected child.
  3. * 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.

Contacts and Locations

Study Contact

Diana Soler, CRC
CONTACT
786-624-2548
diana.soler@nicklaushealth.org
Jenny Esteves, MBA/MHSA
CONTACT
786-624-2854
jenny.esteves@nicklaushealth.org

Principal Investigator

Parul Jayakar, MD
PRINCIPAL_INVESTIGATOR
Nicklaus Children's Hospital

Study Locations (Sites)

Nickalus Children's Hospital f/k/a Miami Children's Hospital
Miami, Florida, 33155
United States

Collaborators and Investigators

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

  • Parul Jayakar, MD, PRINCIPAL_INVESTIGATOR, Nicklaus Children's Hospital

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2018-02-20
Study Completion Date2070-03

Study Record Updates

Study Start Date2018-02-20
Study Completion Date2070-03

Terms related to this study

Keywords Provided by Researchers

  • Nicklaus Children's
  • Pediatric
  • Genomic
  • Precision Medicine
  • Biorepository
  • Rady Children's

Additional Relevant MeSH Terms

  • Genetic Disease
  • Genetic Syndrome