This text is part of the special Research section
By working on the behavior of stem cells, researchers are trying to shed light on what causes suffering in patients with orphan diseases. Although they affect approximately 8% of the population in Quebec, these pathologies remain underfunded and unknown.
Ailments without cure: this is the workhorse of the research team of the Center of Excellence in Research on Orphan Diseases – Courtois Foundation of the University of Quebec in Montreal (CERMO-FC UQAM), which brings together more than 60 researchers in Quebec and abroad.
This fight is getting a big boost this fall: a donation of $12 million from the Courtois Foundation, which will make it possible to renew equipment, such as microscopes and mass spectrometry devices, to pay the salary of some researchers and to offer scholarships, to allow students to start research projects. This is the largest donation ever received by the Fondation de l’UQAM.
All of this aims to better understand the cellular mechanisms behind rare diseases, which affect nearly 700,000 people in Quebec. Each of them affects at least one in 2000 people. a statement.
From orphan diseases to related sources
“If we find the cellular mechanism between the mutation and the expressiveness of the disease, we should be able to cure or prevent it,” explains Nicolas Pilon, director of CERMO-FC, one of the only research centers in the country to focus on the workings and modeling of orphan diseases.
He and his colleagues are interested in one type of cell in particular, the neural crest cells, which can be the source of various syndromes. “As they are stem cells, they affect several organs”, specifies the biologist. These are diseases whose symptoms may differ, but whose cellular mechanics may be related.
And sometimes the symptoms are similar. This is the case with CHARGE and Kabuki syndromes, which both affect facial morphology and can be the source of neurological and behavioral disorders or intellectual deficit. “CHARGE syndrome and Kabuki syndrome have a large overlap in clinical signs, which can be explained by both cellular and molecular similarities,” says Pilon.
According to the researcher, these extreme mechanisms of dysfunction of cellular processes can also inform us about more common diseases, hence the interest.
Neglected pathologies, isolated patients
These diseases have long been neglected by the medical and scientific community. Delays in diagnosis and lack of information are the lot of many patients. These shortcomings lead to a feeling of isolation and various psychosocial problems among those afflicted, according to the Quebec Regrouping of Orphan Diseases made up of about thirty patient associations.
The Government of Quebec is trying to remedy this with its Quebec Policy for Rare Diseases, implemented last June. According to the document published by the Ministry of Health, only a quarter of the 8,000 known rare diseases have been properly identified, and a fraction of them have been thoroughly researched.
If he is delighted with this new policy, Mr. Pilon hopes that it will be accompanied by investments, not only for research, but also for the people affected. Because, when they affect children, the whole family unit suffers the consequences of these diseases. “Given that there are few resources for patient care, one of the two parents often has to stop working to take care of their child,” says Nicolas Pilon. A real loss for society, according to the professor.
Treatments still in the laboratories
As in many areas, money is the crux of the war when it comes to these singular evils. And even if it is a historic donation for his research center, Nicolas Pilon admits that it will be quickly spent.
Historically, research on orphan diseases has received little funding because it is not very profitable. As for the pharmaceutical industry, there is a lack of incentive to produce drugs that are rarely used, according to Mr. Pilon.
This is why the CERMO-FC researchers are banking on what these pathologies have in common. “The same treatment for several diseases, that’s interesting for a biopharmaceutical company,” says Mr. Pilon.
Nevertheless, moving from laboratory research to drug production remains a challenge in Quebec, to the point where “dor[ment] in laboratories”, according to the researcher, who is currently in this situation. “We have something that works very well, with mouse models, with patient tissue,” he says. However, it is impossible to move on to the next stage, that of the clinical trial, for lack of access to the molecule identified as having therapeutic power.
“It’s difficult,” he sighs. “This molecule exists, it is available, we know how to produce it, but there are plenty of regulatory or financial aspects that prevent us from just buying it and testing it”, specifies the researcher, adding that the Targeted biopharmaceutical company is now focusing on the production of vaccines.
From availability to accessibility
This is why it would be wise to put in place incentives to give pharmaceutical companies the sting of rare diseases, according to Nicolas Pilon, as is the case in the United States. The Orphan Drug Act, a law dating from 1983, guarantees pharmaceutical companies tax credits, market exclusivities as well as assistance in drafting protocols for clinical trials, in order to encourage them to develop drugs and treatments for rare diseases.
In 2020, Canada ranked fourth among OECD countries for high drug costs, according to the Patented Medicine Prices Review Board (PMPRB). For example, Health Canada is currently working on the development of a National Catastrophic Drug Strategy for the treatment of rare diseases. Because even when they exist, and they are indeed marketed, the cost of these remedies remains a major obstacle for patients.
This special content was produced by the Special Publications team of the To have to, pertaining to marketing. The drafting of To have to did not take part.