Global Registry and Natural History Study for Mitochondrial Diseases Tracking Disease Progression and Supporting Clinical Trials Worldwide

What this Trial Is About

This research aims to create a global registry for mitochondrial disorders to unify previous national registries, allowing worldwide participation and supporting studies on the natural history of these diseases. The project is part of the EU-funded GENOMIT initiative, coordinated by Dr. Holger Prokisch at Technische Universitt Mnchen, and intends to improve the design and execution of clinical trials while promoting the translation of basic research into clinical practice. The study collects data from existing networks such as mitoNET in GermanyAustria and Mitocon in Italy, with the possibility of including other countries. Participants with suspected or confirmed mitochondrial diseases are followed with annual assessments using standardized scales like the Newcastle Mitochondrial Disease Scale for Adults and Children, the Scale for the Assessment and Rating of Ataxia, and measures of disease progression. Participants are monitored over a long period, up to 30 years or until discontinuation or death. Annual evaluations assess disease status and progression. The registry complies with national ethics and data protection rules, managing data access accordingly. This setup aims to support natural history studies and facilitate future clinical trials for mitochondrial disorders worldwide.

Global Registry and Natural History Study for Mitochondrial Disorders