Genetic DiseaseNCT04399694
Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
An observational study of Genetic Disease and Inborn Errors of Metabolism, run by Duke University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Genetic Disease, Inborn Errors of Metabolism, Glycogen Storage Disease
- How many people
- 56 participants
- Where
- 1 siteUnited States
- Study dates
- 3 Mar 2020to 11 Apr 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with diagnosed genetic disease and inconclusive genetic results and their unaffected family members
Who may be able to join
- 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.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Identification and Characterization of Novel Coding, Splicing and 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.
Read the detailed description
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.
- Conditions
- Genetic Disease, Inborn Errors of Metabolism, Glycogen Storage Disease, Lysosomal Storage Diseases, Storage Disease
- Medical subject headings
- Genetic Diseases, Inborn, Metabolism, Inborn Errors, Glycogen Storage Disease, Lysosomal Storage Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of missing pathogenic protein coding variants
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 May 2020
- Study start3 Mar 2020
- Primary completion11 Apr 2024
- Study completion11 Apr 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- More trials run by Duke UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 56 participants (actual)
Sponsor and investigators
- Lead sponsor
- Duke University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Priya Kishnani, MD, Principal investigator, DukeGreg Crawford, PhD, Principal investigator, Duke
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04399694
- Sponsor's protocol ID
- Pro00090878
- Status last verified
- Jan 2026
- First submitted
- 15 May 2020
- Last updated
- 15 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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).
Study at a glance
From the registry record, last updated by the sponsor on 15 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders
- ClinicalTrials.gov ID
- NCT04399694
- Acronym / sponsor ID
- Pro00090878
- Conditions
- Genetic Disease, Inborn Errors of Metabolism, Glycogen Storage Disease, Lysosomal Storage Diseases, Storage Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 56 participants (actual)
- Lead sponsor
- Duke UniversityUniversity, hospital or other
- Study start
- 3 Mar 2020 (actual)
- Primary completion
- 11 Apr 2024 (actual)
- Study completion
- 11 Apr 2024 (actual)
- First posted
- 22 May 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with diagnosed genetic disease and inconclusive genetic results and their unaffected family members
Key inclusion criteria (6 listed)
- 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.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of missing pathogenic protein coding variants
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Jan 2026.
- Individual participant dataSharing planned: 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).
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Priya Kishnani, MD principal investigator
Duke
Greg Crawford, PhD principal investigator
Duke
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Disease and Inborn Errors of Metabolism, run by Duke University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 15 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of missing pathogenic protein coding variants (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Jan 2026.