Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics

Genetic Predisposition Clinical Trial

Official title:

Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03962452
• Other study ID #: MiDiSeq
• Status: Recruiting
• Phase: N/A
• Start date: March 1, 2019
• Est. completion date: February 2025

Study information

• Verified date: November 2023
• Source: University Hospital Tuebingen
• Contact: Tobias Haack, Dr.
• Phone: +49 7071 298
• Email: tobias.haack[@]med.uni-tuebingen.de
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.

Description:

In the MiDiSeq (monocentric, prospective, open-label diagnostic) project, patients with suspected mitochondrial disease prioritized for i) high a priori probability for a genetic basis (e.g. positive family history) as well as availability of (ii) fibroblast cell lines with a biochemically defined phenotype, (iii) parental samples, (iv) short read whole genome and transcriptome datasets and (v) optional additional metabolomics and proteomics data. The following questions will be leading the project: i) to systematically benchmark different sequencing technologies to detect genetic and epigenetic variation and their impact on gene regulation. (ii) to further develop algorithms for integrative analyses of different 'omics datasets. (iii) to expand the analysis from coding Single-Nucleotide Variants (SNVs) and regulatory mutations to structural variants (SVs), repeat expansions and contractions, low complexity regions and epigenetic signatures. (iv) to identify novel alterations and disease mechanisms. (v) to gain fundamental new insights into disease mechanisms and cellular biology. (vi) to improve genetic diagnostics of future rare disease patients and to evaluate personalized therapeutic options.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: February 2025
• Est. primary completion date: February 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

Unclear diagnosis Suspected genetic cause of the disease Exclusion Criteria: Missing informed consent of the patient/ legal guardian

Related Conditions & MeSH terms

• Disease Susceptibility
• Genetic Predisposition
• Genetic Predisposition to Disease
• Mitochondrial Diseases
• Rare Diseases

Intervention

Genetic:
• Next Generation Sequencing (NGS)
Determining the nucleic acid sequence

Locations

Country	Name	City	State
Germany	University Hospital Tübingen	Tübingen

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital Tuebingen

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	(Epi)Genetic variation	Number of (Epi)Genetic variation	1 Day