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ClinicalTrials.gov ID

NCT05554835

Lead Sponsor

LMU KlinikumOTHER

Overall Status

Recruiting

Study Type

Observational

Enrollment

6,000Estimated

Last Update Posted

Aug 7, 2026Actual

Start Date

Feb 1, 2009Actual

Primary Completion Date

Dec 2040Estimated

Completion Date

Dec 2040Estimated

Official Title

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

Brief Summary

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.

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.

• Mitochondrial Diseases
• Kearns-Sayre Syndrome
• MIDD
• SANDO
• SCAE
• NARP Syndrome
• MELAS Syndrome
• MERRF Syndrome
• Coenzyme Q10 Deficiency
• LHON
• MNGIE
• MIRAS
• Barth Syndrome
• MDS
• Mitochondrial Myopathies
• Leigh Syndrome
• Pearson Syndrome
• CPEO

Ages Eligible for Study

Child (0-17)Adult (18-64)Older Adult (65+)

Sexes Eligible for Study

All

Accepts Healthy Volunteers

No

Eligibility Criteria

Inclusion Criteria:

• suspected or confirmed mitochondrial disease
• willingness to participate

Exclusion Criteria:

• unwillingness to participate

Observational Model

Cohort

Time Perspective

Prospective

Lead Sponsor

LMU KlinikumOTHER

Collaborators

European CommissionOTHER

German Federal Ministry of Education and ResearchOTHER_GOV

University of PisaOTHER

paola.tonin@aovr.veneto.it