Mitochondrial diseases may be rare, but for those affected they mean a lifelong physical and mental suffering and a life adjusted to the disease. Furthermore, there is still a lack of knowledge and awareness of mitochondrial diseases, which makes the patients’ situation even more difficult. This week is Global Mitochondrial Disease Awareness Week (15 – 21 September), and Sweden’s leading company within the area of mitochondrial diseases, NeuroVive Pharmaceutical, wants to place a special spotlight on the patients’ perspective.

Mitochondrial diseases are a group of rare diseases caused by disruptions in the functions of cellular organelles called the mitochondria – also known as the powerhouses of the cells. Their job is to create the energy needed for us to function optimally. Without properly-functioning mitochondria, basic things such as growing, moving and even breathing became very difficult for the body to manage. Common symptoms of mitochondrial disease include hearing problems, muscle wasting, heart failure and rhythm disturbance, epilepsy and dementia and patients with these diseases has a shortened life expectancy.

Global Mitochondrial Disease Awareness Week

Mitochondrial diseases affect around 1 out of every 5 000 people and for many it is a long road to a diagnosis as there is a lack of knowledge concerning these conditions. To increase awareness and help improve the lives of patients, a number of patient organisations collectively known as International Mito Patients came together to create Global Mitochondrial Disease Awareness Week, which takes place this week.

Events will be held across the world to educate the general public about mitochondrial diseases and to raise money for further research. There will be a wide variety of events including everything from a tennis tournament in Rome to an interactive discussion about mitochondrial disease research in Calgary.

Karolinska Institutet organises a mitochondrial conference

There will also be a number of activities arranged in Sweden relating to Global Mitochondrial Disease Awareness Week. One of the biggest events is Journal of Internal Medicine Symposium: Mitochondria in Human Disease, arranged in Stockholm between September 16 – 18 by Karolinska Institutet and the Journal of Internal Medicine.

The purpose of the conference is to bring together researchers working on different aspects of mitochondrial biology in order to promote exchange of knowledge and further the research into this topic. The 3-day conference offers a packed schedule with presentations from world leading researchers from well-known institutes such as University of Cambridge and Miami University. See the programme here.

NeuroVive Pharmaceutical highlights the patient perspective

Naturally Sweden’s leading company within mitochondrial research, NeuroVive Pharmaceutical, takes an active part in the work to raise awareness about these rare diseases. NeuroVive has three projects focusing on genetic mitochondrial diseases of which KL1333 is the furthest along and is currently undergoing clinical phase I-studies. NV354 and NVP025 are in the preclinical and discovery phases, respectively.

On Wednesday September 18th, NeuroVive and Chiesi Farmaceutici invite those interested to Mitokondriedagen 2019. Chiesi focuses on developing drugs within respiratory diseases, neonatology, rare diseases and specialist care and, like NeuroVive (in collaboration with Fortify Therapeutics), the company is involved in developing a treatment for the currently incurable mitochondrial eye disease LHON (Leber’s hereditary optic neuropathy).

Together the two companies have organised an afternoon of seven exciting presentations covering everything from research and development to the patient and relative perspective. For example, NeuroVive’s CMO Magnus Hansson will give a presentation on the theme “new treatment options” during which he will talk about current developments within the field of pharmaceutical drug development for mitochondrial diseases. The day will end with a panel discussion. See the programme here.

Run for LHON

NeuroVive and Karolinska Institutet are not the only Swedish participants in Global Mitochondrial Disease Awareness Week. Another participant is the non-profit LHON Eye Society that provides support for those affected and their families as well as spreading knowledge about LHON.

As a part of the effort to raise awareness about mitochondrial diseases the society will arrange Mito-loppet, a 5,5K run in Hagaparken, Stockholm on Wednesday September18th. The run is the first of its kind, but the plan is to have annual runs around Sweden and in that way increase the general public’s knowledge of mitochondrial diseases.

 

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