Global Registry and Natural History Study for Mitochondrial Disorders

Sponsor
LMU Klinikum (Other)
Overall Status
Recruiting
CT.gov ID
NCT05554835
Collaborator
European Commission (Other), German Federal Ministry of Education and Research (Other), University of Pisa (Other)
6,000
19
382
315.8
0.8

Study Details

Study Description

Brief Summary

The main goal of the project is provison 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.

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 Design

Study Type:
Observational [Patient Registry]
Anticipated Enrollment :
6000 participants
Observational Model:
Cohort
Time Perspective:
Prospective
Official Title:
Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders
Actual Study Start Date :
Feb 1, 2009
Anticipated Primary Completion Date :
Dec 1, 2040
Anticipated Study Completion Date :
Dec 1, 2040

Arms and Interventions

Arm Intervention/Treatment
Mitochondrial patients

Patients with a suspected or confirmed mitochondrial disease.

Outcome Measures

Primary Outcome Measures

  1. Newcastle Mitochondrial Disease Scale for Adults (NMDAS), Sections I-III [The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discountinuation 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.

  2. Newcastle Pediatric Mitochondrial Disease Scale for Children (NPMDS) [The individual participants are followed with annual assessments until they reach the next age group version (up to 18 years) or until discountinuation 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.

  3. Scale for the assessment and rating of ataxia (SARA) in adults [The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discountinuation 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.

  4. Disease progression [The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discountinuation or death.]

    Disease progression as assessed by clinical examination and captured as HPO (Human Phenotype Ontology) Terms at each visit.

Eligibility Criteria

Criteria

Ages Eligible for Study:
N/A and Older
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
Inclusion Criteria:
  • suspected or confirmed mitochondrial disease

  • willingness to participate

Exclusion Criteria:
  • unwillingness to participate

Contacts and Locations

Locations

Site City State Country Postal Code
1 Medical University Innsbruck, Department of Pediatrics Innsbruck Austria 6020
2 Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität Salzburg Austria 5020
3 Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie Berlin Germany 13353
4 Universität Bonn, Klinik und Poliklinik für Neurologie Bonn Germany
5 Universitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderkardiologie Düsseldorf Germany 40225
6 Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurologie, Neurometabolik und Prävention Frankfurt am Main Germany 60590
7 University Medical Center Freiburg, Center for children and youth medicine Freiburg Germany 79106
8 Martin-Luther-Universität Halle-Wittenberg, Neurologische Klinik und Poliklinik Halle/Saale Germany 06097
9 Universitätsklinikum Hamburg Eppendorf Institut für Humangenetik Hamburg Germany 20246
10 Universitätsklinikum Hamburg Eppendorf, Klinik für Kinder-und Jugendmedizin Hamburg Germany 20246
11 Universitätsklinikum Hamburg Eppendorf, Klinik für Neurologie Hamburg Germany 20246
12 Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin Heidelberg Germany 69120
13 Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin Köln Germany 50931
14 LMU Klinikum, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik München Germany 80336
15 Universitätsklinikum Münster, Klinik für Neurologie Münster Germany 48149
16 Klinikum am Steinenberg, Kreiskliniken Reutlingen, Klinik für Kinder-und Jugendmedizin, Perinatal- u. Stoffwechselzentrum Reutlingen Germany 72764
17 Universitätsklinikum Tübingen, Neurologische Klinik und Hertie Institut für Klinische Hirnforschung Tübingen Germany 72076
18 Universitätsklinikum Ulm, Neuromuskuläre Ambulanz, Neurologische Hochschulambulanz im RKU Ulm Germany 89081
19 Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP Pisa Italy

Sponsors and Collaborators

  • LMU Klinikum
  • European Commission
  • German Federal Ministry of Education and Research
  • University of Pisa

Investigators

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

Study Documents (Full-Text)

None provided.

More Information

Additional Information:

Publications

Responsible Party:
Prof. Thomas Klopstock, Prof. Dr. Thomas Klopstock, LMU Klinikum
ClinicalTrials.gov Identifier:
NCT05554835
Other Study ID Numbers:
  • mitoGLOBAL
First Posted:
Sep 26, 2022
Last Update Posted:
Sep 26, 2022
Last Verified:
Sep 1, 2022
Individual Participant Data (IPD) Sharing Statement:
Yes
Plan to Share IPD:
Yes
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No
Keywords provided by Prof. Thomas Klopstock, Prof. Dr. Thomas Klopstock, LMU Klinikum
Additional relevant MeSH terms:

Study Results

No Results Posted as of Sep 26, 2022