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OpenTrials
Completed

NCT Number: NCT04399694

Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders

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.

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Key information

Conditions

Genetic Disease Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Inborn Errors of Metabolism Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Storage Disease

Sex eligibility

All sexes

Study type

Observational

Primary location

Duke University

Durham, North Carolina, 27710, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Subjects will have one or more of the following:

  • Patients (probands) diagnosed with a genetic disease
  • Patients (probands) with inconclusive genetic results
  • Patients (probands) that have identical coding and/or splicing variants, but display highly diverse phenotypes
  • Unaffected family members of probands

Exclusion criteria

There are no exclusion criteria for this study.

Treatment and study plan

Primary outcomes

  1. Number of missing pathogenic protein coding variants

    Time frame: 2 years

Sponsors and collaborators

Lead sponsor

Duke University

Other

Registry information

Official study title

Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders

Important dates

Study start
2020
Primary completion
2024
Study completion
2024
First posted
May 22, 2020
Registry last updated
Jan 15, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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