Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
Primary Purpose
Rare Diseases, Genetic Predisposition
Status
Recruiting
Phase
Not Applicable
Locations
Germany
Study Type
Interventional
Intervention
Next Generation Sequencing (NGS)
Sponsored by
About this trial
This is an interventional basic science trial for Rare Diseases focused on measuring Rare Diseases, Genetic Predisposition, Epigenetic variation, Omics, Genetic variation, Mitochondrial disease, Next Generation Sequencing (NGS)
Eligibility Criteria
Inclusion Criteria:
Unclear diagnosis Suspected genetic cause of the disease
Exclusion Criteria:
Missing informed consent of the patient/ legal guardian
Sites / Locations
- University Hospital TübingenRecruiting
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
Mitochondrial disease
Arm Description
Unresolved index patients with suspected mitochondrial disease
Outcomes
Primary Outcome Measures
(Epi)Genetic variation
Number of (Epi)Genetic variation
Secondary Outcome Measures
Full Information
NCT ID
NCT03962452
First Posted
May 22, 2019
Last Updated
November 3, 2022
Sponsor
University Hospital Tuebingen
1. Study Identification
Unique Protocol Identification Number
NCT03962452
Brief Title
Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
Official Title
Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
Study Type
Interventional
2. Study Status
Record Verification Date
November 2022
Overall Recruitment Status
Recruiting
Study Start Date
March 1, 2019 (Actual)
Primary Completion Date
December 2023 (Anticipated)
Study Completion Date
December 2024 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital Tuebingen
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
Brief 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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Rare Diseases, Genetic Predisposition
Keywords
Rare Diseases, Genetic Predisposition, Epigenetic variation, Omics, Genetic variation, Mitochondrial disease, Next Generation Sequencing (NGS)
7. Study Design
Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
20 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Mitochondrial disease
Arm Type
Other
Arm Description
Unresolved index patients with suspected mitochondrial disease
Intervention Type
Genetic
Intervention Name(s)
Next Generation Sequencing (NGS)
Intervention Description
Determining the nucleic acid sequence
Primary Outcome Measure Information:
Title
(Epi)Genetic variation
Description
Number of (Epi)Genetic variation
Time Frame
1 Day
10. Eligibility
Sex
All
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Unclear diagnosis Suspected genetic cause of the disease
Exclusion Criteria:
Missing informed consent of the patient/ legal guardian
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Tobias Haack, Dr.
Phone
+49 7071 298
Ext
77696
Email
tobias.haack@med.uni-tuebingen.de
First Name & Middle Initial & Last Name or Official Title & Degree
Olaf Rieß, Prof. Dr.
Phone
+49 7071 298
Email
olaf.riess@med.uni-tuebingen.de
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Tobias Haack, Dr.
Organizational Affiliation
University Hospital Tübingen
Official's Role
Principal Investigator
Facility Information:
Facility Name
University Hospital Tübingen
City
Tübingen
ZIP/Postal Code
72076
Country
Germany
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Tobias Haack, Dr.
Phone
+40 7071-297
Ext
7696
Email
tobias.haack@med.uni-tuebingen.de
First Name & Middle Initial & Last Name & Degree
Olaf Rieß, Prof. Dr.
Phone
+40 7071-297
Ext
2323
Email
olaf.riess@med.uni-tuebingen.de
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
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