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Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings

NCT04315727 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 100

Last updated 2023-11-29

No results posted yet for this study

Summary

The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism. As well healthy parents of those affected for trio analysis (exception of one parent is not available for the study).

Conditions

Interventions

GENETIC

WGS Diagnostic Blood take for genetic diagnostic.

Blood sampling, shot clinical characterization, WGS based trio sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures), RNA Sequencing (RNA-seq).

GENETIC

Hair collection

Hair including root will be collected from the scalp (\~15-20) and transferred to cultivation medium for the organoid cultivation

Sponsors & Collaborators

  • University Hospital Tuebingen

    lead OTHER

Principal Investigators

  • Olaf Rieß · University Hospital Tübingen

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-02-01
Primary Completion
2024-07-31
Completion
2024-12-31

Countries

  • Germany

Study Locations

More Related Trials

Entities

Diseases

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 NCT04315727 on ClinicalTrials.gov