NCT03962452

Brief Summary

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

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
20

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Mar 2019

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 1, 2019

Completed
3 months until next milestone

First Submitted

Initial submission to the registry

May 22, 2019

Completed
2 days until next milestone

First Posted

Study publicly available on registry

May 24, 2019

Completed
4.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2024

Completed
1 year until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2025

Completed
Last Updated

March 30, 2025

Status Verified

March 1, 2025

Enrollment Period

4.9 years

First QC Date

May 22, 2019

Last Update Submit

March 25, 2025

Conditions

Rare DiseasesGenetic Predisposition

Keywords

Rare DiseasesGenetic PredispositionEpigenetic variationOmicsGenetic variationMitochondrial diseaseNext Generation Sequencing (NGS)

Outcome Measures

Primary Outcomes (1)

  • (Epi)Genetic variation

    Number of (Epi)Genetic variation

    1 Day

Study Arms (1)

Mitochondrial disease

OTHER

Unresolved index patients with suspected mitochondrial disease

Genetic: Next Generation Sequencing (NGS)

Interventions

Next Generation Sequencing (NGS)GENETIC

Determining the nucleic acid sequence

Mitochondrial disease

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Unclear diagnosis Suspected genetic cause of the disease

You may not qualify if:

  • Missing informed consent of the patient/ legal guardian

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University Hospital Tübingen

Tübingen, 72076, Germany

Location

MeSH Terms

Conditions

Rare DiseasesGenetic Predisposition to DiseaseMitochondrial Diseases

Interventions

High-Throughput Nucleotide Sequencing

Condition Hierarchy (Ancestors)

Disease AttributesPathologic ProcessesPathological Conditions, Signs and SymptomsDisease SusceptibilityMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Sequence AnalysisGenetic TechniquesInvestigative Techniques

Study Officials

  • Tobias Haack, Dr.

    University Hospital Tübingen

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 22, 2019

First Posted

May 24, 2019

Study Start

March 1, 2019

Primary Completion

February 1, 2024

Study Completion

February 1, 2025

Last Updated

March 30, 2025

Record last verified: 2025-03

Data Sharing

IPD Sharing
Will not share

Locations

DE(1)