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

NCT04399694 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 56

Last updated 2026-01-15

No results posted yet for this study

Summary

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.

Conditions

  • Genetic Disease
  • Inborn Errors of Metabolism
  • Glycogen Storage Disease
  • Lysosomal Storage Diseases
  • Storage Disease

Sponsors & Collaborators

Principal Investigators

  • Priya Kishnani, MD · Duke

  • Greg Crawford, PhD · Duke

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-03-03
Primary Completion
2024-04-11
Completion
2024-04-11

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04399694 on ClinicalTrials.gov