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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03962452
Recruitment Status : Not yet recruiting
First Posted : May 24, 2019
Last Update Posted : May 24, 2019
Information provided by (Responsible Party):
University Hospital Tuebingen

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

Condition or disease Intervention/treatment Phase
Rare Diseases Genetic Predisposition Genetic: Next Generation Sequencing (NGS) Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 20 participants
Allocation: N/A
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

Arm Intervention/treatment
Mitochondrial disease
Unresolved index patients with suspected mitochondrial disease
Genetic: Next Generation Sequencing (NGS)
Determining the nucleic acid sequence

Primary Outcome Measures :
  1. (Epi)Genetic variation [ Time Frame: 1 Day ]
    Number of (Epi)Genetic variation

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

Unclear diagnosis Suspected genetic cause of the disease

Exclusion Criteria:

Missing informed consent of the patient/ legal guardian

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03962452

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Contact: Tobias Haack, Dr. +49 7071 298 ext 77696
Contact: Olaf Rieß, Prof. Dr. +49 7071 298

Sponsors and Collaborators
University Hospital Tuebingen
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Principal Investigator: Tobias Haack, Dr. University Hospital Tübingen
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Responsible Party: University Hospital Tuebingen Identifier: NCT03962452    
Other Study ID Numbers: MiDiSeq
First Posted: May 24, 2019    Key Record Dates
Last Update Posted: May 24, 2019
Last Verified: May 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital Tuebingen:
Rare Diseases
Genetic Predisposition
Epigenetic variation
Genetic variation
Mitochondrial disease
Next Generation Sequencing (NGS)
Additional relevant MeSH terms:
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Mitochondrial Diseases
Rare Diseases
Disease Susceptibility
Genetic Predisposition to Disease
Disease Attributes
Pathologic Processes
Metabolic Diseases