Actively Recruiting

All Genders
ID05554835

Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Trial Readiness for Mitochondrial Disorders

Led by LMU Klinikum · Updated on 2025-06-05

6000

Participants Needed

18

Research Sites

N/A

Total Duration

On this page

Sponsors

L

LMU Klinikum

Lead Sponsor

E

European Commission

Collaborating Sponsor

AI-Summary

What this Trial Is About

Researchers are conducting a global registry and natural history study to improve understanding of mitochondrial disorders. This project aims to combine existing national registries into a worldwide network to support natural history studies, define outcome measures, and facilitate future clinical trials. It is part of the EU-funded GENOMIT project, coordinated by Dr. Holger Prokisch at the Technische Universität München, and helps translate basic research into clinical practice. The study includes patients with suspected or confirmed mitochondrial diseases from various networks such as mitoNET in Germany and Austria, and Mitocon in Italy. Other countries and networks are welcome to join the registry, which helps reduce time, effort, and costs for participants and researchers. This observational study collects data without providing experimental treatments. Participants are followed with yearly assessments using scales like the Newcastle Mitochondrial Disease Scale for Adults and Children, and the Scale for the Assessment and Rating of Ataxia. These assessments continue annually for up to 30 years or until participants discontinue or pass away. The study tracks disease progression over time to better understand mitochondrial disorders and prepare for clinical trials.

CONDITIONS

Brief Title

Global Registry and Natural History Study for Mitochondrial Disorders

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Suspected or confirmed mitochondrial disease
  • Willingness to participate
Not Eligible

You will not qualify if you...

  • Unwillingness to participate

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Long-term Monitoring

Duration - Up to 30 years or until discontinuation or death

Participants with suspected or confirmed mitochondrial disease are followed with annual assessments over a long period up to 30 years or until discontinuation or death to observe disease progression and outcomes.

Annual assessments

Trial Site Locations

Total: 18 locations

1

Medical University Innsbruck, Department of Pediatrics

Innsbruck, Austria, 6020

Actively Recruiting

2

Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität

Salzburg, Austria, 5020

Actively Recruiting

3

Department of neurology, Klinikum rechts der Isar, Technical University Munich

Munich, Bavaria, Germany, 81675

Actively Recruiting

4

Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie

Berlin, Germany, 13353

Actively Recruiting

5

Universität Bonn, Klinik und Poliklinik für Neurologie

Bonn, Germany

Actively Recruiting

6

Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin

Cologne, Germany, 50931

Actively Recruiting

7

Universitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderkardiologie

Düsseldorf, Germany, 40225

Actively Recruiting

8

Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurologie, Neurometabolik und Prävention

Frankfurt am Main, Germany, 60590

Actively Recruiting

9

University Medical Center Freiburg, Center for children and youth medicine

Freiburg im Breisgau, Germany, 79106

Actively Recruiting

10

Martin-Luther-Universität Halle-Wittenberg, Neurologische Klinik und Poliklinik

Halle, Germany, 06097

Actively Recruiting

11

Universitätsklinikum Hamburg Eppendorf Institut für Humangenetik

Hamburg, Germany, 20246

Actively Recruiting

12

Universitätsklinikum Hamburg Eppendorf, Klinik für Kinder-und Jugendmedizin

Hamburg, Germany, 20246

Actively Recruiting

13

Universitätsklinikum Hamburg Eppendorf, Klinik für Neurologie

Hamburg, Germany, 20246

Actively Recruiting

14

Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin

Heidelberg, Germany, 69120

Actively Recruiting

15

LMU Klinikum, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

München, Germany, 80336

Actively Recruiting

16

Klinikum am Steinenberg, Kreiskliniken Reutlingen, Klinik für Kinder-und Jugendmedizin, Perinatal- u. Stoffwechselzentrum

Reutlingen, Germany, 72764

Actively Recruiting

17

Universitätsklinikum Tübingen, Neurologische Klinik und Hertie Institut für Klinische Hirnforschung

Tübingen, Germany, 72076

Actively Recruiting

18

Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP

Pisa, Italy

Actively Recruiting

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Research Team

B

Boriana Büchner, Dr.

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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Published Research Related To This Trial

International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.

Michelangelo Mancuso, Robert McFarland, Thomas Klopstock...

https://pubmed.ncbi.nlm.nih.gov/29074296