What is this study about?
This study is part of a larger piece of research funded by The Lily Foundation and the Mito Foundation with the goal of developing treatments for mitochondrial depletion syndromes.
The aim of this study is to collect information about the signs and symptoms associated with RRM2B-related mitochondrial disease.
The intention is to collect detailed clinical information from people who all have RRM2B-related mitochondrial disease. This information will then be used to build up a profile of clinical signs and symptoms usually associated with this condition.
This detailed information can then be used to determine future research themes and to contribute to the design of clinical trials of potential new treatments.
Who can take part?
To be considered for the study, patients must be aged 11 years or over and have a genetically proven diagnosis of recessive RRM2B-related mitochondrial disease.
What's involved in taking part?
Participants who take part in the study will be asked to attend the study centre in Newcastle upon Tyne for two visits which will be 12 months apart.
There is also the option of two interim visits (at 4 and 8 months) which will take place at a location convenient for the participant (for example the participant’s home).
Each visit to the study centre will last for approximately 2 days. Visits will involve blood tests and two MRI scans. Participants will also be asked to complete a number of other assessments (including walking and muscle-strength tests, swallowing assessments and completing questionnaires).
Are there any risks?
This is an observational study and shouldn’t affect the routine clinical care or treatment received by the participants.
Staff conducting the study assessments will try as far as possible to minimise any potential discomfort associated with the procedures. Potential participants will have the study requirements and any associated risks or discomforts clearly explained as part of the informed consent process.
Who will benefit?
Participants in this study will not benefit directly from being involved. However it is hoped that information gained from the study will help determine future research themes and to contribute to the design of clinical trials of potential new treatments
How do I find out more?
If you are a patient who would like further information about participating in this study please contact Jan Gebbie or Dr Albert Lim, telephone: 0191 208 3105, email: [email protected].
