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Khondrion announces first patients dosed in 6-month paediatric Phase II study of sonlicromanol for mitochondrial diseases

Study will examine the pharmacokinetics, safety and efficacy of sonlicromanol, one of the most advanced disease-modifying drug candidates in development for mitochondrial disease

NIJMEGEN, the Netherlands – 21 April 2021: Khondrion, a clinical-stage biopharmaceutical company discovering and developing therapies targeting mitochondrial disease, today announces that the first patients have been successfully dosed in its KHENERGYC paediatric Phase II study (NCT04846036) to explore the pharmacokinetics, safety and efficacy of sonlicromanol in children with a genetically confirmed primary mitochondrial disease and suffering from motor symptoms.

Sonlicromanol, Khondrion’s wholly-owned, investigational lead asset, is currently being tested in a Phase IIb study as a potentially disease-modifying treatment for adults with mitochondrial disease. The compound is a first-in-class, oral small molecule targeting key underlying mechanisms of mitochondrial disease based on the drug’s unique triple mode of action: redox modulation to help restore the cell’s metabolism, radical trapping preventing ferroptotic cell death, and mPGES-1 inhibition resulting in anti-inflammatory effects.

The placebo-controlled, double blind KHENERGYC study is underway at internationally recognised mitochondrial disease centres in Europe. First patients are being dosed at the Radboud Centre for Mitochondrial Medicine, Nijmegen, The Netherlands. The 6-month study, supported by Dutch Patient Foundations and an EFRO Grant (PROJ-00582) will investigate the effect of sonlicromanol in 24 children (from birth to 17 years) with genetically confirmed mitochondrial disease of which the gene defect is known to hamper the functioning of one or more oxidative phosphorylation system enzymes and who are suffering from motor symptoms. The study’s primary objective is to evaluate the effect of sonlicromanol on motor function using a range of validated, quantitative assessments including the Gross Motor Function Measure-88 and the Nine Hole Peg Test.

Prof. Dr. Jan Smeitink, Chief Executive Officer at Khondrion, said: "Mitochondrial diseases present a serious unmet medical need in children, with those diagnosed experiencing a rapid progression of symptoms that can have a significant impact on their quality of life and having a substantially reduced life expectancy. Despite advances in the understanding of mitochondrial disorders, treatment options are extremely limited and, to date, largely consist of supportive care. There is an urgent need for treatments.”

“At Khondrion we don’t want to leave any mitochondrial disease patient behind, that’s why this paediatric study is important so that, together with our ongoing phase IIb study in adult patients, we can truly understand the disease-modifying potential of sonlicromanol across all age groups.”

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MetabERN recommendations for all rare inherited metabolic diseases patients and caregivers about treatment adherence during the COVID-19 emergency

The European Reference Network for Hereditary Metabolic Disorders (MetabERN) have issued advice to patients with Inherited Metabolic Diseases (IMDs). 

Experts at MetabERN recommend that IMD patients are considered as high priority to be vaccinated against COVID-19, and that patients should have the vaccine when offered. Read more

Many IMP Member organisations have information about COVID-19 in their specific country or region. Please visit our Member page and click on the logo to visit your local organisation.

To read the Mitochondrial Medicine Society’s latest (March 2021) response to COVID-19 vaccines, click here.

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What is the CureMILS Project?

The project - full name 'CureMILS - A reprogramming-based strategy for drug repositioning in patients with mitochondrial DNA-associated Leigh syndrome' - is an exciting research project which aims to develop therapies for mitochondrial DNA-associated Leigh syndrome (MILS).

Professor Prigione explains what the project involves in this 3 minute video.  

IMP is a partner in the project, which is part of the European Joint Programme on Rare Diseases.

Click to watch.

Read more about the project.

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New LHON Webpage & German Translation of Brochure 

IMP is pleased to publish a new webpage dedicated to LHON, as well as the German translation of the LHON Brochure. Thank you to Lennart Sass at LHON Deutschland e.V. for the translation. The brochure, originally published in late 2020, is also available in Italian and English. 

LHON is a type of mitochondrial disease, which causes acute vision loss. The onset is generally in adolescence or early adulthood. Vision loss starts with no warning and frequently progresses very quickly from one eye to both.

There are many LHON patient organisations around the world as well as national mito patient organisations that support people with LHON.

Visit the LHON page.  

Last Chance to Join International Mito COVID-19 Data Study

Are you a mito patient and have had COVID-19? Your experience could help other mito patients. 

Join this important study by contacting Dr Chiara Pizzamiglio (This email address is being protected from spambots. You need JavaScript enabled to view it.) and Dr Robert Pitceathly (This email address is being protected from spambots. You need JavaScript enabled to view it.). 

Recruitment will finish by the end of March.

What is this study about?

The Highly Specialised Service for Rare Mitochondrial Disorders in London has created a database to register children and adults with mitochondrial disease who contract "Coronavirus Disease 2019" (COVID-19). The reason for doing this is to understand how COVID-19 affects people with mitochondrial disease, and whether the response is different to people without mitochondrial disease. It is hoped that this knowledge will improve the treatment of COVID-19 in people with mitochondrial disease. Details concerning your mitochondrial disease and the symptoms and treatment received for COVID-19 are entered into the database, but no identifiable information is included (i.e., the data is anonymised). The research team might contact your mitochondrial specialist to confirm certain details surrounding your diagnosis and relevant medical professionals involved in your COVID-19 treatment. This is particularly relevant if you were admitted to hospital with COVID-19.

Who can take part?

The study is aimed at anyone (children or adults) with strongly suspected or genetically confirmed mitochondrial disease with either suspected or confirmed COVID-19. From all countries in the world. We would encourage the mitochondrial community to report all cases of COVID-19 irrespective of the symptoms and severity. This means people without symptoms, in whom COVID-19 was detected through routine screening, and those with typical (fever, cough and/or loss of smell/taste) or atypical symptoms would be included. We would also like to include both people who stayed at home and those that required admission to hospital. Finally, we would like to include people who had both a positive COVID-19 test (swab or blood test) and those with symptoms suggestive of COVID-19, even if they had a negative COVID-19 test.

What is involved in taking part?

The study will help to develop a database of individuals with mitochondrial diseases and confirmed or suspected COVID-19. The database is anonymous, so the name or any other personal details (for example, date of birth) will not be collected. To participate, please contact Dr Chiara Pizzamiglio (This email address is being protected from spambots. You need JavaScript enabled to view it.) and Dr Robert Pitceathly (This email address is being protected from spambots. You need JavaScript enabled to view it.) and they will contact you to obtain further information concerning your diagnosis and COVID-19 experience. The time required to obtain all the information is approximately 15-20 minutes. Please note that you will not be provided with clinical advice on the management of COVID-19.

Are there any risks?

There are no risks in participating in the study.

Who will benefit?

The research team hopes to understand how COVID-19 affects people with mitochondrial disease to improve knowledge of the course and improve management of the infection in people with mitochondrial disease.

How do I find out more?

If you would like to know more about the study or would like to participate please contact Dr Chiara Pizzamiglio (This email address is being protected from spambots. You need JavaScript enabled to view it.) and Dr Robert Pitceathly (This email address is being protected from spambots. You need JavaScript enabled to view it.).


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