NCT03962452

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 20 (actual)
• Sponsor: University Hospital Tuebingen · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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

Detailed 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.

Conditions

• Rare Diseases
• Genetic Predisposition

Interventions

Type	Name	Description
GENETIC	Next Generation Sequencing (NGS)	Determining the nucleic acid sequence

Timeline

• Start date: 2019-03-01
• Primary completion: 2024-02-01
• Completion: 2025-02-01
• First posted: 2019-05-24
• Last updated: 2025-03-30

Locations

1 site across 1 country: Germany