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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
Sponsor:
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
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



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

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 ClinicalTrials.gov identifier (NCT number): NCT03962452


Contacts
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Contact: Tobias Haack, Dr. +49 7071 298 ext 77696 tobias.haack@med.uni-tuebingen.de
Contact: Olaf Rieß, Prof. Dr. +49 7071 298 olaf.riess@med.uni-tuebingen.de

Sponsors and Collaborators
University Hospital Tuebingen
Investigators
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Principal Investigator: Tobias Haack, Dr. University Hospital Tübingen

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Responsible Party: University Hospital Tuebingen
ClinicalTrials.gov Identifier: NCT03962452     History of Changes
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
Omics
Genetic variation
Mitochondrial disease
Next Generation Sequencing (NGS)

Additional relevant MeSH terms:
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Rare Diseases
Disease Susceptibility
Mitochondrial Diseases
Genetic Predisposition to Disease
Disease Attributes
Pathologic Processes
Metabolic Diseases