Barth Syndrome, Coenzyme Q10 Deficiency, CPEO, Kearns-Sayre Syndrome, Leigh Syndrome, LHON, MDS, MELAS Syndrome, MERRF Syndrome, MIDD, MIRAS, Mitochondrial Diseases, Mitochondrial Myopathies, MNGIE, NARP Syndrome, Pearson Syndrome, SANDO, SCAE
Conditions
Keywords
Patient Registry
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.
Interventions
None listed
Sponsors
LMU Klinikum
European Commission
German Federal Ministry of Education and Research
University of Pisa
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* suspected or confirmed mitochondrial disease * willingness to participate
Exclusion criteria
* unwillingness to participate
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 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. |
| 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 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. |
| 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 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. |
| Disease progression | 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. |
Countries
Austria, Germany, Italy
Contacts
CONTACTBoriana Büchner, Dr.
PRINCIPAL_INVESTIGATORThomas Klopstock, Prof. Dr.
LMU Klinikum, Munich
PRINCIPAL_INVESTIGATORMichelangelo Mancuso, Prof. Dr.
Università di Pisa
Outcome results
None listed