NCT04399694

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
56

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Mar 2020

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 3, 2020

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

May 15, 2020

Completed
7 days until next milestone

First Posted

Study publicly available on registry

May 22, 2020

Completed
3.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 11, 2024

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

April 11, 2024

Completed
Last Updated

January 15, 2026

Status Verified

January 1, 2026

Enrollment Period

4.1 years

First QC Date

May 15, 2020

Last Update Submit

January 13, 2026

Conditions

Genetic DiseaseInborn Errors of MetabolismGlycogen Storage DiseaseLysosomal Storage DiseasesStorage Disease

Outcome Measures

Primary Outcomes (1)

  • Number of missing pathogenic protein coding variants

    2 years

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with diagnosed genetic disease and inconclusive genetic results and their unaffected family members

You may qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Duke University

Durham, North Carolina, 27710, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Samples with DNA and/or RNA

MeSH Terms

Conditions

Genetic Diseases, InbornMetabolism, Inborn ErrorsGlycogen Storage DiseaseLysosomal Storage Diseases

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic DiseasesCarbohydrate Metabolism, Inborn Errors

Study Officials

  • Priya Kishnani, MD

    Duke

    PRINCIPAL INVESTIGATOR

  • Greg Crawford, PhD

    Duke

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 15, 2020

First Posted

May 22, 2020

Study Start

March 3, 2020

Primary Completion

April 11, 2024

Study Completion

April 11, 2024

Last Updated

January 15, 2026

Record last verified: 2026-01

Data Sharing

IPD Sharing
Will share

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).

Shared Documents
CSR
Time Frame
Data will be available 7-12 months after results are generated and will be available forever.

Locations

US(1)