What’s this study about?
We’re sharing a new international My Rare Journey® survey to help improve understanding of the journey to a genetic diagnosis of mitochondrial disease.
People with mitochondrial disease can have very different journeys, from their first signs and symptoms to reaching a genetic diagnosis. This survey aims to understand not simply how long that takes, but what’s happening during those years.
By bringing together experiences from across the international mitochondrial community, the project team hope to better understand the different routes people take towards a genetic diagnosis, what influences when genetic testing is considered and what can help move the journey forward.
Your experience could help improve awareness, inform future research and support earlier identification and diagnosis for people with mitochondrial disease in the future. Sharing your journey can help make some of those ‘invisible years’ visible.
The survey has been developed with an international Steering Committee including The Lily Foundation, bringing together people with lived experience and mitochondrial patient organisations from around the world.
The project is funded by UCB but is developed and delivered independently by OpalMedica, in collaboration with mitochondrial patient organisations and members of the mitochondrial disease community.
Who can take part?
The survey is for people with any genetically confirmed primary mitochondrial disease.
For this survey, a mitochondrial disease is considered genetically confirmed when genetic testing has identified a pathogenic or likely pathogenic variant in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that’s known to cause primary mitochondrial disease.
You can complete the survey about yourself or on behalf of your child or another person in your care or family. You must be aged 18 or over to complete it.
What’s involved in taking part?
Taking part involves completing an online survey. It takes approximately 15-20 minutes and should be completed in one sitting. Participation is entirely voluntary.
You’ll be asked about the first signs and symptoms, the healthcare professionals involved in your care, your experiences of investigations and genetic testing, what helped move your journey towards a genetic diagnosis, and the impact it may have had on you or your family.
The survey is available in English, French, Italian and Latin American Spanish.
Your responses will be combined with those of other participants and analysed anonymously. Findings may be shared through reports, scientific publications, presentations and educational materials.
UCB will receive only anonymised and aggregated results. No identifiable personal information will be shared with UCB or any other third party.
At the end of the survey, you can also choose to receive a summary of the project’s findings and hear about future My Rare Journey® research opportunities.
Please note: You may recognise some questions from the Experiences of Diagnosis Survey carried out previously by The Lily Foundation. This new global survey has a different focus – understanding what causes delays in genetic diagnosis and what could help people receive a diagnosis sooner. The findings will also help inform the development of a new clinical decision-support tool for GPs.
How do I find out more?
You can find out more and take part through the My Rare Journey® website:
