An observational study in Genetic Disease, Inborn Errors of Metabolism and Glycogen Storage Disease, sponsored by Duke University. Completed at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-01-15.
Sponsored by Duke University · Observational
The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders. We will particularly focus on patients with a diagnosed genetic disorder that has inconclusive genetic findings.
To perform this study, we will use patient DNA and RNA that is isolated from blood samples. DNA will be sequenced (targeted capture and/or whole genome DNA sequencing (WGS)) to identify any non-coding single nucleotide variants (SNVs), smaller insertions/deletions (indels), or larger structural variants (SVs). RNA will be sequenced (RNA-seq) to identify genes that are expressed in a differential and/or allele-specific manner, which may indicate a functional non-coding or splicing variant. We will test the function of non-coding variants using high-throughput reporter assays and CRISPR based methodologies.
152 studies on the registry are indexed under Metabolism, Inborn Errors; 22 are open to participants now.
This study's enrollment of 56 is below the median of 65 across 45 observational studies indexed under Metabolism, Inborn Errors.
Browse Metabolism, Inborn Errors studies →Duke University is the lead sponsor of 2,063 studies on the registry; 273 are open to participants now.
Of its 204 completed or terminated interventional studies of FDA-regulated products, 167 (82%) have results posted.
Compared within Metabolism, Inborn Errors, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Genetic Diseases, Inborn. The counts are of registry records indexed under each term, refreshed daily. How we classify →
Patients with diagnosed genetic disease and inconclusive genetic results and their unaffected family members
Inclusion criteria:
Subjects will have one or more of the following:
Exclusion Criteria: There are no exclusion criteria for this study.
Number of missing pathogenic protein coding variants
Time frame: 2 years
Plan to share: Yes — Data will be submitted to dbGaP, casual variants to ClinVar, aggregate rare phenotype and variant data to Geno2MP and other databases, candidate genes via a public list and linked to a node of the MatchMaker Exchange (MyGene2).
Supporting information: Clinical study report
Time frame: Data will be available 7-12 months after results are generated and will be available forever.
No publications or documents are linked to this record.
Ran from Mar 2020 to primary completion in Apr 2024, 49 months.
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This study is completed, as verified in Jan 2026. You cannot join it, but the record below documents what was studied.
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