Professor Alessandro Prigione

 

CureMILS


CureMILS - A reprogramming-based strategy for drug repositioning in patients with mitochondrial DNA-associated Leigh syndrome

This exciting research project aims to develop therapies for mitochondrial DNA-associated Leigh syndrome (MILS).

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

Watch Professor Alessandro Prigione provide an update on the CureMILS project.

Read more about the project.

 

Photo of a Sleeping child

 

PowerMe Study

Severe fatigue in children and adolescents with a mitochondrial disease is the focus of the PowerMe study.

Fatigue is a common symptom across many of the mitochondrial diseases and can have a life changing impact. There are no medications to reduce fatigue. It is possible that severe fatigue may be helped through physical, occupational and psychological treatments.

The PowerMe study is a blended cognitive behavior therapy targeting fatigue in children and adolescents with mitochondrial diseases. The intervention aims to reduce perceived fatigue by targeting fatigue-related conditions and behaviours.

The results of the study are being analysed and we look forward to sharing them when published.

 

IMP is proud to have participated in this project. IMP is committed to contributing to the best care of mito patients around the world.

 

To read more, download:

Blended cognitive behaviour therapy for children and adolescents with mitochondrial disease targeting fatigue (PowerMe): study protocol for a multiple baseline single case experiment, Klein et al in Open Access.

Cognitive functioning and mental health in mitochondrial disease: A systematic scoping review , Inge-Lot Klein et al in Neuroscience and Biobehavioural Reviews

Ukrainian Flag

IMP supports the international mito community and stands with all those affected by conflict. 

As a member of EURODIS-Rare Diseases Europe, IMP supports its efforts to aid people with rare diseases, including mitochondrial diseases, in Ukraine.
 
Visit the Ukraine - Rare Disease Resource Centre on EURODIS-Rare Disease Europe's website
 
 
Information and support

Rare Diseases of Ukraine's Facebook page contains information in Ukrainian. Please contact them for help - email: This email address is being protected from spambots. You need JavaScript enabled to view it., tel: +380674658142.

Adrian Goretzki is offering direct support to Ukrainians affected by rare diseases.

Emergency Response Coordination Centre: Assistance offered through the EU Civil Protection Mechanism - map of where help is offered.

Information about support available in:

Romania - dopomoha.ro/en

Latvia - ukraine-latvia.com 

While IMP does not have a member in Ukraine, we will do all we can to help Ukrainians affected by mito access the support they need. 

Rare Disease Day 2022 Poster

Rare Disease Day 2022

What is rare disease day?

Rare Disease Day is the official international awareness-raising campaign for rare diseases which takes place on the last day of February each year. The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

Rare Disease Day was launched by EURORDISRare Diseases Europe and its Council of National Alliances in 2008.

How to show your support for rare disease day

Raising awareness of what it means to be rare There are over 300 million people worldwide living with a rare disease. Together across borders, and across the 6000+ rare diseases we work towards more equitable access to diagnosis, treatment, care and social opportunity.

The key message for Rare Disease Day 2022 is SHARE YOUR COLOURS!

IMP supports Rare Disease Day and encourages everyone to get involved in raising awareness. 

Watch the Rare Disease Day 2022 video.

Screenshot from Rare Disease Day video

Find out more at www.rarediseaseday.org 

Don't forget to use #RareDiseaseDay in your social media posts.

Khondrion logo

Khondrion completes enrollment in KHENERGYZE Phase IIb trial evaluating sonlicromanol in adult patients with MELAS spectrum disorders


MEDIA RELEASE: Khondrion, a clinical stage biopharmaceutical company discovering and developing therapies targeting primary mitochondrial diseases, today announced that the last patient has been dosed with sonlicromanol in the KHENERGYZE Phase IIb clinical study. Sonlicromanol is Khondrion’s wholly-owned, lead asset being developed to treat a range of mitochondrial diseases in children and adults. Topline data from KHENERGYZE is expected in the third quarter of 2022.

The study’s primary objective is to evaluate the dose-effect of sonlicromanol on the attention domain score of cognitive functioning, as assessed by the computerised Cogstate visual identification test. Cognitive impairment is becoming increasingly recognised in mitochondrial disease patients and can have a significant and debilitating impact on many aspects of their lives. Sonlicromanol’s potential to counteract cognitive decline is supported by preclinical research and results from a completed Phase IIa study, which showed a significant improvement in attention and mood related outcomes in patients treated with sonlicromanol compared to placebo.

Prof. Dr. Jan Smeitink, Chief Executive Officer at Khondrion, said: "Completing enrollment in our Phase IIb study is an important milestone and brings us another step closer to providing an urgent and much needed disease-modifying therapy to patients with severe and debilitating mitochondrial diseases. I would like to express my gratitude to all the patients and their families for their participation in this trial, and to the investigators and wider team, whose dedication has been vital in advancing this important clinical programme. We look forward to receiving results from the trial later in the year.”

Sonlicromanol is a first-in-class, oral small molecule targeting key underlying mechanisms of mitochondrial disease based on its 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. In Phase I and Phase IIa studies, sonlicromanol showed a good safety and tolerability profile well beyond target therapeutic dosing levels.

KHENERGYZE is a double-blind, randomised, placebo-controlled, multi-centre, three-way cross-over study examining cognitive function in adult 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), MIDD (maternally inherited diabetes and deafness) syndromes, and mixed phenotypes.

Sonlicromanol’s development programme also includes two other ongoing clinical studies: the KHENEREXT Phase IIb open label extension study, examining the long-term safety and efficacy of sonlicromanol in adult patients who have completed the KHENERGYZE study, and the KHENERGYC Phase II study in children.

Further details of the KHENERGYZE study are available on clinicaltrials.gov.

 

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