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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

56 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-03-03

Study Completion Date

2024-04-11

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions

NCT02077894

Genetic Eye Disease

RECRUITING

Study of Clinical and Molecular Manifestations of Genetic Disorders

NCT00001466

Hereditary Diseases

COMPLETED

Genetic Analysis of Uncommon Disease Presentations in Non-US Populations

NCT06595940

Undiagnosed Diseases Rare Diseases

RECRUITING

Rare and Undiagnosed Disease Research Biorepository

NCT04703179

Undiagnosed Disease Rare Diseases

ENROLLING_BY_INVITATION

Observational Study of Advanced Data Analytics in Genetic Conditions

NCT05657405

Genetic Conditions

RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

See the medical conditions and disease areas that this research is targeting or investigating.

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

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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

Eligible Sex

ALL

Accepts Healthy Volunteers

No