Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
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|ClinicalTrials.gov Identifier: NCT03962452|
Recruitment Status : Not yet recruiting
First Posted : May 24, 2019
Last Update Posted : May 24, 2019
|Condition or disease||Intervention/treatment||Phase|
|Rare Diseases Genetic Predisposition||Genetic: Next Generation Sequencing (NGS)||Not Applicable|
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.
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||20 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Primary Purpose:||Basic Science|
|Official Title:||Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics|
|Estimated Study Start Date :||July 2019|
|Estimated Primary Completion Date :||June 2021|
|Estimated Study Completion Date :||June 2022|
Unresolved index patients with suspected mitochondrial disease
Genetic: Next Generation Sequencing (NGS)
Determining the nucleic acid sequence
- (Epi)Genetic variation [ Time Frame: 1 Day ]Number of (Epi)Genetic variation
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03962452
|Contact: Tobias Haack, Dr.||+49 7071 298 ext email@example.com|
|Contact: Olaf Rieß, Prof. Dr.||+49 7071 firstname.lastname@example.org|
|Principal Investigator:||Tobias Haack, Dr.||University Hospital Tübingen|