Rare Disease Day

29 February 2020

Rare Disease Day aims to raise awareness amongst the general public and decision makers about rare diseases and their impact on patients’ lives.

Patient organisations around the world mark Rare Disease Day with awareness raising activities.

There are many types of mitochondrial disease, all of them rare diseases. By coming together, our voices are stronger.

Find out what activities are taking place around the world, how you can get involved and from the day at the Rare Disease Day website.


February 2020

At the initiative of IMP a group of specialists, researchers and clinicians carried out a study into the safety of medicines in mitochondrial patients. The existing information needed a major update due to more scientific insights and clinical experience. IMP was convinced that this update needed to be based on a thorough scientific study. The study took place on an international level and with input from different disciplines in order to ensure a broadly based scientific outcome.

A publication in the Journal of Inherited Metabolic Disease (JIMD) was realized. And now a special text for patients and their families based on this is available.

IMP is grateful to all those specialists who were willing to dedicate their time and knowledge to this subject. The final result is of great importance to many mitochondrial patients and their families.

For the scientific publication click here.

For the text and tables for patients click here.

February 2020

A very important scientific publication has come out emphasizing the fact that chronic pain occurs in the majority of adult mitochondrial patients. Next to fatigue this turns out to be a core symptom which is mostly overlooked in the treatment of mitochondrial patients.

One of the leading members of IMP, the German DGM, has initiated and sponsored the research study. The study was carried out by the renowned research institute of Prof. Dr. Herta Flor in Mannheim, part of the Heidelberg University. An independent research institute which dedicated itself to this significant study with striking outcomes. The study is published by the highly esteemed scientific journal Neurology.

IMP congratulates Susanne Becker and Martin Loeffler of the institute and Carsten Gamroth of DGM/IMP with this fantastic result.

To read the article click here.


27 January 2020

Khondrion, a clinical-stage pharmaceutical company discovering and developing therapies targeting mitochondrial disease, today announces that the first patients have been successfully dosed in its phase IIb KHENERGYZE study of Sonlicromanol (previously known as KH176), its wholly-owned lead asset in development to treat a range of mitochondrial diseases.

KHENERGYZE is being initiated at three internationally recognised mitochondrial disease centres in Europe – Radboud University Medical Center, Nijmegen, Netherlands; Newcastle University, United Kingdom and Ludwig-Maximilians-University of Munich, Germany. The double-blind, randomised, placebo-controlled three-way cross-over study examining cognitive function will recruit patients with a specific genetically confirmed DNA mutation in the mitochondrial transfer RNALeu(UUR) (MT-TL1m.3243A>G). This mutation is responsible for MELAS spectrum disorders, including MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) and MIDD (maternally inherited diabetes and deafness) syndromes, and mixed phenotypes.

The study’s primary objective is to evaluate the dose-effect of Sonlicromanol on the attention domain score of cognitive functioning, as assessed by a computerized Cogstate visual identification test. Results are expected in the second half of 2020.

Sonlicromanol is a potentially first-in-class oral small molecule and one of the most advanced disease-modifying drug treatments for mitochondrial disease in development, having shown clinical proof of concept and efficacy, and a well-tolerated safety profile in phase I and IIa studies. It has been granted Orphan Drug Designation for MELAS spectrum disorders, Leigh disease and patients with MIDD in Europe and for all inherited mitochondrial respiratory chain disorders in the USA. 

For the full pressrelease click here

Source: Khondrion

17 January 2020

The first Rare Disease Day was celebrated in 2008 on 29 February, a ‘rare’ date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February, a month known for having a ‘rare’ number of days. It is the one day of the year when attention is asked, on a worldwide scale, for rare diseases and their impact on patients’ lives. Through thousands of events, smaller and larger, awareness is raised among the general public as well as among decision-makers.

Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.

The political momentum resulting from Rare Disease Day also serves advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.

Even though the campaign started as a European event, it has progressively become a world phenomenon, with the USA joining in 2009, and participation in over a 100 countries around the world since the beginning. We hope many more will join again in 2020.

Download the official Rare Disease Day 2020 poster to display at your events, workplace or home and to share the message that RARE is many worldwide, RARE is strong every day, RARE is proud everywhere.  

We encourage you to share the Rare Disease Day poster on Facebook, Twitter and Instagram.

In the downloads section you will find these different poster formats available:

Poster to print

Poster for web and social media in jpeg format

Poster to adapt with translation in addition of your organisation or sponsor logos in psd format

Poster with white box for additional event information in psd format

If you have questions about how to adapt or translate the Rare Disease Day poster please get in touch at This email address is being protected from spambots. You need JavaScript enabled to view it..

Use the new Rare Disease Day 2020 Facebook cover photo and Twitter cover photo on your social media accounts.

Don't forget you can also customise your social media profile picture with the Facebook frame or Twibbon.

For more ways to get involved in Rare Disease Day 2020 take a look at the Rare Disease Day Infopack.


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