The aim of this research is to establish a database (or ‘cohort’), which is a computer record about patients with mitochondrial disease. Having information on patients with mitochondrial disease allows us to study in detail mitochondrial disease progression with time and identify eligible patients from all over the UK to take part in research studies or drug trials in the future. We collect information such as a patient’s genetic mutation, clinical features and various investigation results. The Mitochondrial Research Groups in Newcastle and London work together with support from the Medical Research Council to collect this information. This study aims to benefit patients living with mitochondrial disease. We may make contact with you on behalf of researchers running a research project in which you may be able to participate. Such research projects could include new treatments or drug trials.
Benefits to taking part
- We inform patients about suitable clinical trials and research studies that they might wish to join.
- With a patient permission, we will update them on any new developments on their condition.
- The details collected also provide information for doctors interested in the best standards of care for mitochondrial disease. This helps to develop national standards and guidelines on management of mitochondrial disease.
Access to data is available to research groups based in the UK and elsewhere around the world. All applicants who would like to view anonymous data must first submit an application form detailing their project and the intended use of any data that is released. A panel of experts in mitochondrial disease, neuromuscular disease, research ethics and a patient representative from across the UK review all applications and make a decision based on the scientific quality of the research, practical considerations and ensure that the research will be carried out according to national and international research guidelines.
To date the MitoCohort has over 1300 patients enrolled and has assisted 29 laboratory/clinical research projects, clinical audits and service evaluation/development. These projects have led to further understanding of mitochondrial disease, looked at new diagnostic techniques and have led to the development of new and existing clinical guidelines for the management of patients with Mitochondrial Disease.
For information about the management of the cohort please click here
Examples of the most recent cohort projects can be found here.