Whole Genome Sequencing for Children with Genetic Diseases
Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children
This study is testing if Whole Genome Sequencing can help doctors diagnose genetic diseases in children with unexplained health issues and see how it affects their care.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | N/A to 21 Years |
| Sex | All |
| Sponsor | Nicklaus Children's Hospital f/k/a Miami Children's Hospital Academic / other |
| Locations | 1 site (Miami, Florida) |
| Trial ID | NCT03458962 on ClinicalTrials.gov |
What this trial studies
This observational research aims to explore the effectiveness of Whole Genome Sequencing (WGS) in diagnosing genetic diseases in children with suspected congenital conditions or multi-organ diseases of unknown origin. The study will assess diagnosis rates, the impact of genetic diagnoses on clinical care, and the economic implications of WGS. Additionally, it will gather patient and provider experiences with genomic medicine and create a comprehensive database linking genomic data to health outcomes. Participants will provide consent for future research and access to their medical records.
Who should consider this trial
Good fit: Ideal candidates are children aged 0-21 with unexplained medical conditions suspected to have a genetic basis.
Not a fit: Patients over 21 years of age or those without a reasonable suspicion of a genetic etiology may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate diagnoses and improved clinical care for children with genetic conditions.
How similar studies have performed: Other studies utilizing Whole Genome Sequencing have shown promising results in improving diagnostic rates for genetic conditions.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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. * 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. Exclusion Criteria: * 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.
Where this trial is running
Miami, Florida
- Nickalus Children's Hospital f/k/a Miami Children's Hospital — Miami, Florida, United States (Recruiting)
Study contacts
- Principal investigator: Parul Jayakar, MD — Nicklaus Children's Hospital
- Study coordinator: Diana Soler, CRC
- Email: diana.soler@nicklaushealth.org
- Phone: 786-624-2548
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.