Tous avec Noé - Support research

The mutation of the gene RARβ was identified in a first patient in 2013. Research by the Michaud and Krezel laboratories began in 2015. Since then, four teams of Canadian, Swiss and French scientists have been mobilized to better understand the disease and develop adapted therapies through the RainRARE project, launched in 2018. This project is funded by the European Community and the Cure MCOPS12 nonprofit. We also contribute to funding the ongoing research by making regular donations to the non-profit organizations that support it.

Scientists aim to deepen their understanding of the role of RARβ (the receptor of vitamin A) in the brain issues associated with MCOPS12. According to Wojciech Krezel, one of the four scientists working on MCOPS12, they wish to understand the mechanisms resulting from the RARβ mutation and describe clearly how neurological disoders develop.

Wojciech Krezel studies how vitamin A works in the body.
Jacques Michaud discovered that RARβ mutation can lead to MCOPS12.
Verdon Taylor focuses on brain development and stem cells reprogramming.
Olivier Poch works on bioinformatics and big data analysis.

Researchers use natural history studies in order to understand how a disease progresses, especially when it is rare and not well-known. These studies make it easier to test new medicines on affected patients, speed up drug development, improve the chances of regulatory approval, and help create life-changing treatments for patients in need.

The natural history study of MCOPS12 was launched in 2016. Led by Jacques Michaud and Valérie Chu, the Sainte-Justine hospital is building a registry of patients with MCOPS12. As part of this study, researchers collect and analyze data from people affected by the disease. Then, they use these medical data to compare results before and after treatment for each person. Natural history studies help the scientific community compare MCOPS12 variants and inform families about newly identified phenotypes. This study is essential for conducting a clinical trial, as it is required by health authorities.

In 2021, two therapeutic approaches for treating MCOPS12 were developed thanks to the Cure MCOPS12 nonprofit and the scientific research teams. The first clinical phase of a treatment for a person affected by MCOPS12 began in 2024. However, these projects have a tremendous cost as research and clinical testing have amounted 2 630 000 euros so far. You can find these two approaches below.

Two approaches thanks to research. 1. Drug repositioning: this approach aims to treat motor disorders and cognitive deficiencies. It involves identifying new therapeutic uses for drugs that were not approved for their initial indication or whose development was discontinued. This strategy offers several advantages for rare diseases: for instance, the mechanisms of action and side effects of these drugs are already known. Six medication are currently being tested on a mouse model with MCOPS12 to identify a treatment for hypotonia, dystonia and cognitive deficiency to some extent. The tested drugs are either already on the market or in clinical trials. 2. ARN therapy. RNA therapy, a new class of RNA-based (ribonucleic acid) medicines, aims to silence the mutant RARβ in order to prevent the translation of this gene's protein in patients with MCOPS12. This technique is new but very promising for genetic diseases. Unlike gene therapy (which directly targets the patient's DNA), this approach has the advantage of being reversible, but it must be administered repeatedly.

To learn more about ongoing research, we invite you to check the websites of the four laboratories in the world who advance research on MCOPS12:

IGBMC

Illkirch, France

Wojciech Krezel, PhD in molecular genetics and developmental biology.

Sainte-Justine Hospital

Montreal, Canada

Jacques Michaud, professor of neuroscience, director of University hospital Sainte-Justine

Strasbourg University

Strasbourg, France

Olivier Poch, PhD in neuroscience and researcher at CNRS

Basel University

Basel, Switzerland

Verdon Taylor, professor of embryology and stem cell biology

We sincerely hope that Noé will one day be able to benefit from a therapy that will help him improve his motor skills and allow him to stand and walk more easily. The ongoing therapeutic research give us hope. Through our charity Tous avec Noé, we wish to contribute financially to this research so that as many children as possible can benefit from it.

We are taking part in the clinical study mentioned earlier, led by Dr. Michaud's team at Sainte-Justine hospital in Montreal. We have had several video calls to describe Noé's symptoms, and have also completed several questionnaires. The aim is to gather information about the MCOPS12 disease that affects Noé. Dr. Michaud also explained the current state of research to us. Noé has a particular mutation of the RARβ gene, which is why the research team is working to set up a new experimental approach. This could help develop a therapy that may improve Noé's neurological abilities.

Thanks to your donations, here are the charities we have supported in order to find new therapies for people with MCOPS12:

The non-profit organization A Cure for Sophia and Friends is highly active in supporting medical research as they aim to raise 300 000 dollars. This funding will help advance research and contribute to finding a treatment for MCOPS12. Over the past two years, its members have already raised $130 000. This has allowed them not only to continue the biomarker study in mouse models going but also to reach the finals stages of the drug repositioning study.

Thanks to research for people affected by MCOPS12, two medication have been identifed. They show positive results in improving motor skills and cognitive abilities (we would like to thank A Cure for Sophia and Friends, and especially Rachel Sutherland, for sharing this information with us):

Piracetam: this medication has already been used in the treatment of dementia, depression, ADHD or anxiety. Its mechanism of action improves mitochondrial function as well as the phenotypes observed in people with MCOPS12. Although it is approved in Europe, Canada, Australia, and Japan, it is still not available in the United States.
cGP Max (cyclic glycine-proline): this substance is naturally present in blackcurrants, so it does not require a prescription since it is not classified as a medication.

The progress in research brings a great deal of hope to people affected by MCOPS12 and their families.

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