Rare DiseasesNCT03962452
Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
A study testing Next Generation Sequencing (NGS) in people with Rare Diseases and Genetic Predisposition, run by University Hospital Tuebingen at 1 site in Germany.
Trial summary
The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases, Genetic Predisposition
- What is being tested?
- Next Generation Sequencing (NGS)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteGermany
- Study dates
- 1 Mar 2019to 1 Feb 2025
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Unclear diagnosis Suspected genetic cause of the disease
Who cannot join
- Missing informed consent of the patient/ legal guardian
Trial locations and contacts
1 site in 1 country.
About this study
The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.
Read the 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:
- 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
- Being tested
- Next Generation Sequencing (NGS)
- Keywords
- Rare Diseases, Genetic Predisposition, Epigenetic variation, Omics, Genetic variation, Mitochondrial disease, Next Generation Sequencing (NGS)
- Medical subject headings
- Rare Diseases, Genetic Predisposition to Disease, Mitochondrial Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Next Generation Sequencing (NGS)Genetic
Determining the nucleic acid sequence
| Study group | Role | What they receive |
|---|---|---|
| Mitochondrial disease | Other | Unresolved index patients with suspected mitochondrial disease Receives: Genetic: Next Generation Sequencing (NGS) |
What is being measured
The primary outcome is the main question the study is designed to answer.
(Epi)Genetic variation
Number of (Epi)Genetic variation
Measured: 1 Day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 May 2019
- Study start1 Mar 2019
- Primary completion1 Feb 2024
- Study completion1 Feb 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Tobias Haack, Dr., Principal investigator, University Hospital Tuebingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03962452
- Sponsor's protocol ID
- MiDiSeq
- Status last verified
- Mar 2025
- First submitted
- 22 May 2019
- Last updated
- 30 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
- ClinicalTrials.gov ID
- NCT03962452
- Acronym / sponsor ID
- MiDiSeq
- Conditions
- Rare Diseases, Genetic Predisposition
- Keywords
- Rare Diseases, Genetic Predisposition, Epigenetic variation, Omics, Genetic variation, Mitochondrial disease, Next Generation Sequencing (NGS)
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Study start
- 1 Mar 2019 (actual)
- Primary completion
- 1 Feb 2024 (actual)
- Study completion
- 1 Feb 2025 (actual)
- First posted
- 24 May 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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 design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Mitochondrial disease | Other | Genetic: Next Generation Sequencing (NGS)Unresolved index patients with suspected mitochondrial disease |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Unclear diagnosis Suspected genetic cause of the disease
Key exclusion criteria (1 listed)
- Missing informed consent of the patient/ legal guardian
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Next Generation Sequencing (NGS)Determining the nucleic acid sequence | Genetic | Mitochondrial disease |
Primary outcome
(Epi)Genetic variation
Time frame: 1 Day
Number of (Epi)Genetic variation
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Mar 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Tobias Haack, Dr. principal investigator
University Hospital Tuebingen
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Next Generation Sequencing (NGS) in people with Rare Diseases and Genetic Predisposition, run by University Hospital Tuebingen at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 30 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
(Epi)Genetic variation (time frame: 1 Day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Mar 2025.