Logo that reads 'LHON Awareness Day' in bright green font

LHON Awareness Day 2024: 19 September 2024

Theme: LHON & Gene Therapy: Where are we now?

Save the date for a free, interactive webinar discussing gene therapy and LHON. 

Hear the latest from companies developing gene therapies for LHON, clinical experts and someone who has been part of a gene therapy clinical trial. And find out what you can do to ensure the voice of people living with LHON is heard!

Our webinar will be on 19 September 2024 from 13:00 - 15:00 CEST. To register your interest click on the link below. 

Register your interest now!

photo of a female research scientist in a face mask holding a segment of DNA with tweezers. She is about to insert this missing piece of DNA into a DNA segment.


Late last year the second of two forums took place with members of the LHON community invited to share their perspectives of living with the condition. 

The results of the forums have been published in two reports (see links below). They captured the key discussions and provided people living with LHON the important opportunity to connect on critical issues, share experiences and make recommendations. 

Increased awareness, improved materials, leveraging of LHON Awareness Day and developing stronger networks with key stakeholders, were some of the main themes discussed. 

Thank you to Chiesi for their ongoing support of the LHON community and in particular, this project. 


To download the June 2023 report, click here

To download the November 2023 report, click here

Help raise awareness of TK2D

Help raise awareness of the symptoms of TK2D by sharing our fantastic infographics. We've slightly updated these from 2023, so please do replace your older graphics with these ones. 

Click to download the square version in English or landscape version in English , or follow the links for versions in Italian, Spanish, and German:

Download square version in German or landscape version in German

Download in square version in Spanish or landscape version in Spanish

Download in square version in Italian or landscape version in Italian

News from Mitocon: Italy leads the way in the European Union with a secondary legislation for testing mitochondrial DNA replacement techniques

27 February 2024

(For the press release in original Italian, see here)

The first law regulating the testing of mitochondrial replacement techniques within medically assisted procreation is finally a reality in Italy. 

It was presented on 27th February 2024 at the Luigi Sturzo Institute at the start of an important regulatory path promoted by Mitocon, the reference organization in Italy for people with mitochondrial diseases, and founding member of IMP with Sen. Ignazio Zullo as its first signatory.

Italy is thus a candidate to be the first country in the European Union and the third in the world to adopt a measure dedicated to the prevention of mitochondrial diseases, rare and serious diseases that affect one in 4,300 people worldwide, causing major disabilities in both adults and children, so much so that their life expectancy is reduced.

Significantly reducing the risk of a child inheriting the disease from its mother is the most important purpose of these IVF techniques, in which 'defective' maternal mitochondria are replaced with healthy mitochondria from an anonymous donor. The Secondary Legislation  intends to focus on the process of mtDNA replacement, which does not affect the physical or intellectual characteristics of the future child but solves a health problem.

These techniques have already been used in England for nearly a decade. In Australia in 2022 a law was finally passed allowing their use within a 10-year clinical trial.

The Bill consists of six Articles : Article 1 provides a delegation of authority to the Government to define the techniques of medically assisted procreation through the testing of Mitochondrial replacement for female carriers of Mitochondrial DNA mutations.  Article 2 identifies the principles and directive criteria to be followed for the adoption of the legislative decrees specified in Article 1.  Article 3 gives the Minister of Health the task of identifying the Centre for experimentation on medically assisted procreation from among those included in the National Register of Facilities authorised for the application of PMA techniques.  Article 4 regulates the modalities through which informed consent is given while article 5 gives the Minister of Health the task of preparing a report on the activity carried out by the National Centre for Experimentation on PMA.Finally, Article 6 presents as its subject matter the financial provisions.

“The presentation of this Bill is the culmination of a path that Mitocon started about two years ago and that has allowed to reflect on the necessity of Mitochondrial replacement techniques with lots of different subjects from the world of research, of health institutions and society in general” emphasises Piero Santantonio, founder and past President of Mitocon.  

This dialogue highlighted almost unanimously both the importance of the techniques as a tool to prevent the transmission of these terrible diseases and the need for Italy, which has an important scientific tradition in this regard, to continue to invest in research, in the field of Mitochondrial diseases that are increasingly connected to other and much more widespread neurodegenerative diseases.

On behalf of Mitocon we thank all the stakeholders who have helped us explore these issues, to our patients and their families.  Now awaits the important step of conversion into law which we hope will be accomplished as soon as possible.

Evaluation of image data from high-throughput drug screening in MILS patient cells

"New start" for energy metabolism - hope for people with rare diseases

Reprogramming of cells reveals therapeutic approaches

With the reprogramming of somatic cells, scientists hope to come a step closer to a therapy and even a cure for Leigh syndrome.

Researchers from the CureMILS network, in which IMP is a partner, have developed cell differentiation technologies which can then be used to better understand and evaluate the effect of drugs on areas of the brain that are particularly affected in MILS patients. In addition to this work, the project has developed an extensive "substance library" and have been able to test more than 5,500 active substances for which extensive safety and efficacy data already exists. Based on this cumulative work, Dr. Markus Schülke, Professor of Exper- imental Neuropaediatrics at the Charité in Berlin, was able to successfully use sildenafil on a young MILS patient who had been in a coma for several weeks.  "The patient recovered quickly under the therapy and was able to breathe and move on his own again," reports Schülke.

Based on the preclinical and clinical data, sildenafil received an orphan drug designation, which will help in designing a clinical trial to determine its efficacy. "We have provided a kind of 'research pipe- line' for the repositioning of drugs and shown that the parallel investigation of extensive substance collections can lead to results much faster than was the case in the past," summarises Alessandro Prigione.

This disease model points the way to effective treatment of MILS and could also be applicable to other rare and previously incurable diseases.

To read more on this exciting work, click here

© 2024 Int. Mito Patients