NCT04315727

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

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 100 (estimated)
• Sponsor: University Hospital Tuebingen · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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).

Detailed description

In the GENOME+ study (monocentric, prospective, open-label diagnostic study), patients with molecularly undiagnosed diseases will diagnostically be analyzed by means of omics technologies or re-analyzed using existing datasets. The following questions will be leading the study: Primary: • Identification of the molecular causes of unclear rare diseases Secondary: * Improve number of diagnoses for patients with rare diseases * Further characterization of the identified putative disease causes * Increase number of patients receiving appropriate therapy after successful diagnosis. In addition, healthy parents of the subjects may be included in the study to perform parent-child (trio) analyses. In addition, phenotype and omics data will be shared within the University Hospital Tübingen, Germany and with external collaborators to improve the diagnostic rate of the patients included in the study. Storage of blood or tissue samples is not primary goal of this project, but may be necessary for further analyses.

Conditions

• Rare Diseases
• Genetic Predisposition to Disease

Interventions

Type	Name	Description
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

Timeline

• Start date: 2021-02-01
• Primary completion: 2024-07-01
• Completion: 2024-12-01
• First posted: 2020-03-19
• Last updated: 2023-11-29

Locations

2 sites across 1 country: Germany