An observational study in Genetic Predisposition, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Completed at 1 site in United States. Per ClinicalTrials.gov, last updated 2020-01-06.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
Background:
- The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or your family.
Objective:
-To allow for exomic or genomic sequencing of NICHD patients or family members in order to identify changes in genes that cause or contribute to a specific disease.
Eligibility:
Design:
Over the last few years advancements in DNA sequencing technology have progressed significantly. It now is feasible and economical to sequence the exome (known genes) or the entire genome. This technological advance can be applied to identifying genetic causes of rare diseases where traditional methods such as mapping frequently failed due to insufficient number of cases. These cases often present themselves in the context of other NICHD research protocols, such as teaching protocols, where it would not be efficient for the individual investigators to write a new protocol. It will also serve to standardize the consent document across NICHD for investigators that do not include exomic/genomic sequencing in their own protocol.
238 studies on the registry are indexed under Genetic Predisposition to Disease; 91 are open to participants now.
This study's enrollment of 128 is below the median of 400 across 155 observational studies indexed under Genetic Predisposition to Disease.
Browse Genetic Predisposition to Disease studies →Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is the lead sponsor of 422 studies on the registry; 25 are open to participants now.
Of its 14 completed or terminated interventional studies of FDA-regulated products, 11 (79%) have results posted.
Counted across the registry records on this site, refreshed daily.
-Children who are enrolled in an NICHD clinical study where the condition being studied may have a genetic cause.@@@-Family members of a child who is eligible for this study.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Proband s that are enrolled in an NICHD clinical protocol for which there is a suspicion of an underlying genetic cause for a disease for which they are being evaluated.
EXCLUSION CRITERIA:
1. Normal volunteers unrelated to a proband with the disease of interest.
Enrolled study participants in whom genetic sequencing was done
Gene Mutations
Identify genetic causes of rare diseases
Time frame: Baseline, Continuously
Deidentified sequence data
Allow NICHD investigators to access de-identified sequence data generated by the NICHD Molecular Genomics Laboratory
Time frame: Baseline, Continuously
Ran from Jun 2011 to primary completion in Nov 2018, 89 months.
Of 79 non-industry observational studies under Genetic Predisposition to Disease, half reached primary completion within 118 months of starting (the median), counting those still running; a quarter within 50. This study's 89 months is below that.
Counting every sponsor, half of 81 studies reached it within 118 months; a quarter within 50.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Jan 2020. You cannot join it, but the record below documents what was studied.
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Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Genetic Predisposition to Disease →
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) →