Global Registry and Natural History Study for Mitochondrial Disorders

December 15, 2023 updated by: Prof. Thomas Klopstock, LMU Klinikum

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

The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.

Study Overview

Status

Recruiting

Conditions

Detailed Description

The global mitochondrial registry and natural history study is part of the EU-financed GENOMIT project, co-ordinated by Dr. Holger Prokisch, Technische Universität München (TUM).It aims at advancing the understanding of the natural history of mitochondrial disease to inform the design and facilitate the conduction of clinical trials. It also serves as a catalyst for translating basic research results into clinical practice.

The global mitochondrial registry and natural history study provides for all contingencies of national ethics and data protection rules including data access management.

Currently participating networks are:

  • German network for mitochondrial diseases - mitoNET, Germany/Austria
  • Italian Registry of Mitochondrial Patients - Mitocon, Italy

The inclusion of other networks and countries is possible and explicitly welcome. A major advantage of the global registry is that countries can join in, saving a lot of time, effort and funding.

Study Type

Observational

Enrollment (Estimated)

6000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Austria
      • Innsbruck, Austria, 6020
        • Recruiting
        • Medical University Innsbruck, Department of Pediatrics
        • Contact:
      • Salzburg, Austria, 5020
        • Recruiting
        • Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität
        • Contact:
          • Saskia Wortmann, PD Dr. med.
          • Phone Number: 26222 +43 5 7255
        • Contact:
  • Germany
      • Berlin, Germany, 13353
        • Recruiting
        • Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie
        • Contact:
      • Bonn, Germany
        • Recruiting
        • Universität Bonn, Klinik und Poliklinik für Neurologie
        • Contact:
      • Düsseldorf, Germany, 40225
        • Recruiting
        • Universitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderkardiologie
        • Contact:
      • Frankfurt am Main, Germany, 60590
        • Recruiting
        • Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurologie, Neurometabolik und Prävention
        • Contact:
          • Matthias Kieslich, Prof.Dr.med.
          • Phone Number: +49 69 6301 5560
        • Contact:
          • Martin Lindner, PD Dr. med.
      • Freiburg, Germany, 79106
      • Halle/Saale, Germany, 06097
        • Recruiting
        • Martin-Luther-Universität Halle-Wittenberg, Neurologische Klinik und Poliklinik
        • Contact:
          • Annamarie Thäle, Dr. med.
        • Contact:
          • Alexander Mensch, Dr. med.
          • Phone Number: 49 345 557 2856
      • Hamburg, Germany, 20246
        • Recruiting
        • Universitätsklinikum Hamburg Eppendorf Institut für Humangenetik
        • Contact:
          • Maja Hempel, PD Dr. med.
          • Phone Number: +49 40 7410 50772
          • Email: m.hempel@uke.de
      • Hamburg, Germany, 20246
        • Recruiting
        • Universitätsklinikum Hamburg Eppendorf, Klinik für Kinder-und Jugendmedizin
        • Contact:
          • René Santer, Prof.Dr.med.
          • Phone Number: +49 40 7410 52710
        • Contact:
          • Konstantinos Tsiakas, Dr. med.
      • Hamburg, Germany, 20246
        • Recruiting
        • Universitätsklinikum Hamburg Eppendorf, Klinik für Neurologie
        • Contact:
      • Heidelberg, Germany, 69120
        • Recruiting
        • Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin
        • Contact:
          • Georg F. Hoffmann, Prof. Dr.
          • Phone Number: +49 6221 56 4837
        • Contact:
      • Köln, Germany, 50931
        • Recruiting
        • Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin
        • Contact:
      • München, Germany, 80336
        • Recruiting
        • LMU Klinikum, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
        • Contact:
          • Thomas Klopstock, Prof. Dr.
          • Phone Number: +49 89 4400 57400
        • Contact:
      • Reutlingen, Germany, 72764
        • Recruiting
        • Klinikum am Steinenberg, Kreiskliniken Reutlingen, Klinik für Kinder-und Jugendmedizin, Perinatal- u. Stoffwechselzentrum
        • Contact:
        • Contact:
          • Vanessa Kock, Dr. med.
          • Phone Number: +49 7121 200 4060
      • Tübingen, Germany, 72076
        • Recruiting
        • Universitätsklinikum Tübingen, Neurologische Klinik und Hertie Institut für Klinische Hirnforschung
        • Contact:
    • Bavaria
      • Munich, Bavaria, Germany, 81675
        • Recruiting
        • Department of neurology, Klinikum rechts der Isar, Technical University Munich
        • Contact:
          • Marcus Deschauer, Prof. Dr.
          • Phone Number: 4617 +49 89 4140
        • Contact:
          • Luisa Semmler
  • Italy
      • Pisa, Italy
        • Recruiting
        • Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

All

Description

Inclusion Criteria:

  • suspected or confirmed mitochondrial disease
  • willingness to participate

Exclusion Criteria:

  • unwillingness to participate

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Mitochondrial patients
Patients with a suspected or confirmed mitochondrial disease.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Disease progression
Time Frame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Disease progression as assessed by clinical examination and captured as HPO (Human Phenotype Ontology) Terms at each visit.
The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Newcastle Mitochondrial Disease Scale for Adults (NMDAS), Sections I-III
Time Frame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Newcastle Mitochondrial Disease Scale for Adults (NMDAS) is a clinical rating scale designed for mitochondrial disease. The rating scale explores several domains: current function, system specific involvement and current clinical assessment. The individual scores are summed to provide a total score that ranges from 0 to 145; higher scores indicate more severely affection.
The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Newcastle Pediatric Mitochondrial Disease Scale for Children (NPMDS)
Time Frame: The individual participants are followed with annual assessments until they reach the next age group version (up to 18 years) or until discontinuation or death.

NPMDS is a clinical rating scale designed for mitochondrial disease in children.

There are three versions of the NPMDS, each for a specific age range (0-24 months, 2-11 years, and 12-18 years). The rating scale explores several domains: current function (Section I), system specific involvement (Section II), current clinical assessment (Section III) and quality of life (QoL) assessments (Section IV). The individual scores in Section I-III are summed to provide a total score that ranges from 0 to 70 (version 0-24month) and 0-82 (versions 2-18 years); higher scores indicate more severely affection. Section IV (QoL) is scored separately and provide a total score that ranges from 0 to 25 with higher scores indicating better quality of life.
The individual participants are followed with annual assessments until they reach the next age group version (up to 18 years) or until discontinuation or death.
Scale for the assessment and rating of ataxia (SARA) in adults
Time Frame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
The Scale for the Assessment and Rating of Ataxia (SARA) is a clinical scale used to assess cerebellar ataxia in adults. The scale includes 8 items, related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test. The individual scores are summed to provide a total score that ranges from 0 to 40, higher scores indicate more severe ataxia.
The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

LMU Klinikum

Collaborators

University of Pisa
German Federal Ministry of Education and Research
European Commission

Investigators

  • Principal Investigator: Thomas Klopstock, Prof. Dr., LMU Klinikum, Munich
  • Principal Investigator: Michelangelo Mancuso, Prof. Dr., Università di Pisa

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 1, 2009

Primary Completion (Estimated)

December 1, 2040

Study Completion (Estimated)

December 1, 2040

Study Registration Dates

First Submitted

August 11, 2022

First Submitted That Met QC Criteria

September 23, 2022

First Posted (Actual)

September 26, 2022

Study Record Updates

Last Update Posted (Actual)

December 21, 2023

Last Update Submitted That Met QC Criteria

December 15, 2023

Last Verified

December 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • mitoGLOBAL

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Any data or results from the project can be shared upon written request with researchers. Data sharing requires approval by the respective scientific committee and their institutional review board.

IPD Sharing Time Frame

Time frame for data usage needs to be specified in the proposal for data sharing.

IPD Sharing Access Criteria

Approved written proposal including the description of the research plan and data usage purpose.

IPD Sharing Supporting Information Type

  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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