April 2019

Researchers at St George’s, University of London are developing an enzyme replacement therapy for MNGIE (mitochondrial neurogastrointestinal encephalomyopathy), an ultra-rare, progressive disorder. Patients with MNGIE have a defect in the gene which codes for the enzyme, thymidine phosphorylase and results in affected individuals producing insufficient enzyme. Thymidine phosphorylase is required for the normal metabolism of substances called thymidine and deoxyuridine and in its absence these accumulate to toxic levels in the body, causing damage to the mitochondria, the powerhouses of the cell. Tissues that are heavily dependent on energy, such as muscle, the gastrointestinal system and nervous system are severely affected.

 

The St George’s team, led by Dr Bridget Bax are investigating the effectiveness of using the patient's own red blood cells (erythrocytes) as a vehicle to carry the missing thymidine phosphorylase in the blood circulation. The erythrocytes provide a protected environment in which the enzyme can function. The encapsulated enzyme reduces the levels of toxic metabolites in the blood, relieving the nervous system and muscle of their damaging effects. Data obtained from the compassionate use of erythrocyte encapsulated thymidine phosphorylase (EE-TP) in patients with MNGIE showed that a reduction in blood thymidine and deoxyuridine levels can be causally linked to clinical benefit. EE-TP has been approved by the Medicines and Healthcare products Regulatory Agency (MHRA), clearing the way for patient clinical trials, Phase II, to begin this year. The team are now applying for approval to extend trials to other countries.

 

For more information: https://clinicaltrials.gov/ct2/show/NCT03866954  and https://www.sgul.ac.uk/research-profiles-a-z/bridget-bax

 

 

April 2019

The Recordati Rare Diseases Foundation in France is organising a special course: “Mitochondrial Medicine 30 years on: State of the Art.

The course takes place in Nice, on the 11-13th of April. It is aiming at increasing the knowledge and awareness of mitochondrial disorders among health care professionals. The organising committee is formed by prof. Pascal Laforêt, prof. Shamima Rahman and dr. Angeles Garcia-Cazorla.

Although the course is meant to be for professionals and has a scientific content, a representative of IMP will present and discuss the patient’s perspective. It is good to experience that patient representatives are increasingly invited for such scientific meetings in order to explain the patient’s perspective.

For further information:>http://www.rrd-foundation.org/en/course/mitochondrial-medicine-30-years-state-art/97

January 2019

Welcome to the LOA/LHON group of the Eye Association Netherlands!

For more information: https://www.oogvereniging.nl/oogaandoeningen/oogaandoeningen-overzicht/loalhon/

 

 

 

Download the official Rare Disease Day 2019 poster to display at your events, workplace or home and raise awareness of the impact of rare diseases in your community. The Rare Disease Day poster is available to download in the following formats and sizes:

  • For Web: Available in three sizes (JPG)
  • For Print: Available in two sizes (PDF) as well as one 60 x 80.pdf with a blank white space to fill in your event details
  • For Designers: (with these files, the slogan is customisable to translate into your own language): Available in two sizes (PSD) with a 60 x 80 with a blank white space to fill in your event details.

The poster features Filip who lives with achondroplasia and his mother Alina. Filip also features as one of the three patient testimonial videos filmed for this year’s campaign (coming soon!) Find out more about Filip’s story of living with a rare disease.

The theme for Rare Disease Day 2019 is ‘Bridging health and social care’; this year’s campaign focuses on the need to better coordinate all aspects of care to improve the lives of people living with a rare disease.

Still looking for ways to get involved on the big day? Check out all the different ways you can join in this year’s campaign!

You can also download the official Rare Disease Day logo and other campaign materials to use during your Rare Disease Day activities.

 

 

  

14th of January 2019

RareConnect, an initiative of Eurordis, has recently created an online community for mitochondrial diseases in close collaboration with a mother and patient advocate. This community is meant to be for all those affected by mitochondrial diseases and especially for all those who don't have an identifiable genetic mutation. 

The highlights of the community are:

- It is available in 12 languages

- It offers peer-to-peer support

- A translation system guarantees the translation of all posts and stories

- It represents a meeting point for families that do not speak English or cannot count on any patient associations within their reach

RareConnect/Eurordis aims to transform this community into a place that can fulfil the needs as a patient or caregiver, where they can have meaningful connections with other members worldwide.

There are still many people living in all regions of the world that have yet to be properly diagnosed with a mitochondrial disease as not everyone has identifiable genetic mutations. RareConnect is reaching out to patients who wish to share their stories of diagnosis and personal life experience. Stories can be submitted anonymously to your community. Story submissions will assist others in their journeys. Availability of testimonies, awareness and educational resources for Mitochondrial diseases will assist in early detection and diagnosis of these disorders. 

HAVE A LOOK!

 

 

 

© 2019 Int. Mito Patients