Status:
ENROLLING_BY_INVITATION
Rapid Whole Genome Sequencing Study
Lead Sponsor:
Rady Pediatric Genomics & Systems Medicine Institute
Conditions:
Genetic Diseases
Genetic Syndrome
Eligibility:
All Genders
Phase:
NA
Brief Summary
Rapid Whole Genome Sequencing (rWGS) has proven to provide much faster diagnoses than traditional clinical testing, including clinical Whole Exome Sequencing (WES) and standard Whole Genome Sequencing...
Detailed Description
Rapid Whole Genome Sequencing (rWGS) is a new technology that is able to deliver symptom-driven diagnoses of childhood-onset genetic diseases in as little as 26 hours. Investigators at RCIGM have show...
Eligibility Criteria
Inclusion
- The Repository will be comprised of samples from symptomatic patients, individuals reported to be their (symptomatic or asymptomatic) biologic family members, and control individuals. In this context a "symptomatic patient" is characterized as a patient whose treating physician has identified phenotypic features and/or signs of illness potentially attributable to a genetic disorder (also referred to as "Affected" or "Proband"). There will be no age, gender, race, or health restrictions for this Biorepository Study. However, since this study will be performed at children's hospitals and since genetic disorders are more likely to be present in children less than 4 months of age these cases will likely be preferentially enrolled. Preference will also be given to those who are acutely ill, suspected of a genetic condition, and for whom a diagnosis may result in change of clinical management.
Exclusion
- Participants will be excluded if they are unwilling to consent to research.
- A patient may be determined ineligible if there is a prior diagnosis that explains their clinical presentation, if other traditional clinical genetic testing is more appropriate at the time of referral, if the clinical presentation is insufficient at the time of referral to suggest a genetic etiology, if the parents are unable or unwilling to provide permission for participation, if child protective services is involved in the case unless the child's life is in immediate danger and research holds out a prospect of direct benefit that is important to the health or well-being of the child and is available only in the context of the research in which case permission will be obtained from the party legally responsible for medical decisions.
Key Trial Info
Start Date :
August 29 2017
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 31 2050
Estimated Enrollment :
100000 Patients enrolled
Trial Details
Trial ID
NCT03385876
Start Date
August 29 2017
End Date
December 31 2050
Last Update
December 23 2021
Active Locations (1)
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1
Rady Children's Institute for Genomic Medicine
San Diego, California, United States, 92123