Raising awareness and generating change for the 300 million people worldwide living with a rare disease, their families and carers.

Today is Rare Disease Day! We are inviting everyone to share their colours and raise awareness for the 300 million people living with a rare disease around the world. By coming together to advocate for change, we can achieve equitable social opportunity, healthcare, and access to diagnosis for people living with a rare disease.

Across the globe, the international community has organised events ranging from home, office and building illuminations to tea parties, conferences, policy events, contests and many more! To discover all of them, take a look at the interactive world map of Rare Disease Day events.

This 28 February, share our Official Rare Disease Day video to spread our call for equity!

Find out more about Rare Disease Day.

Fatigue, depression and quality of life impairments are highly prevalent in patients living with mitochondrial diseases. However, a recent study did not find these mental health challenges could be simply explained by disease severity in general. The study’s results suggested a constant interplay between disease related factors and mental health.

Dr Kim van de Loo presented her thesis on ‘Cognitive functioning and mental health in children and adults with a Mitochondrial Disease’ at the Radboud Medical University in Nijmegen, The Netherlands in November 2022. This extensive study into the mental health of mitochondrial disease patients is hoped to form the basis of many follow-up studies. In academic circles the study was praised for its thorough scoping and literature review, and the new insights provided.

The thesis aimed to obtain more insight into the cognitive functioning and mental health of patients with mitochondrial diseases, and into the relation of cognitive functioning and mental health with disease specific factors.

The study also resulted in a clinical intervention treating mitochondrial disease patients between the age of 8 -18 years with respect to their mental health. The PowerME study was published in 2021 and can be found here.

The study was initiated by Dr Chris Verhaak, Associate Professor, researcher and clinical psychologist, in close cooperation with IMP. Together, we successfully applied for a grant with the Princes Beatrix Muscle Fund. During the study IMP actively provided input and feedback, especially on the design of the study, the recruitment of patients, and the set-up of the PowerME intervention.

This thesis is one of the first studies structurally addressing the cognitive and mental health aspects of mitochondrial diseases. It stressed the importance of systematically integrating these aspects into both daily clinical practice and research. This is help us to disentangle the complex interplay between mitochondrial functioning related parameters, impact of the mitochondrial disease on daily life, and cognitive and mental health functioning.

Download the Thesis now:

Watch Professor Alessandro Prigione share an exciting update on the CureMILS (Cure Maternally Inherited Leigh Syndrome) project.

The first small clinical trial is showing very promising results and Professor Prigione is now hoping a larger trial will be possible.

In parallel the project has screened more than 6,000 compounds. It is hoped that among those screened compounds other drugs can be identified that can be used to treat MILS.   

Read more about CureMILS.

Significant progress has been made with the Genomit - Global Mitochondrial Disease Patient Registry over the last few months.

Work is currently being undertaken in Italy in preparation for Mitocon to launch the Italian portal in 2023, with other countries planning to follow soon after. 

IMP will host an online meeting for representatives from pharmaceutical companies and regulators on in February. We look forward to providing an update on the Registry and discussing how we can work together with the common aim of improving the lives of people affected by mito. 

Please email This email address is being protected from spambots. You need JavaScript enabled to view it. to find out more about the Industry Meeting. 
 
Thank you to our members who have indicated an interest in running the Patient Registry in their country. If you are interested in establishing the Registry in your country, please email Jo.

Read more about the Registry

Raising Awareness about TK2d

Tuesday 13 September was the inaugural TK2d Awareness Day. 

Thymidine kinase 2 deficiency (TK2d) is a rare genetic type of mitochondrial disease. 

TK2d is a myopathic form of mito - which means people affected suffer severe muscle weakness. 

Click to download infographic in French, Spanish and Portuguese. 

You can find more information at www.tk2d.com