Hope is what Nicolas Pilon, director of the Center of Excellence in Research on Orphan Diseases–Fondation Courtois (CERMO-FC), can now offer parents of children with Hirschsprung’s disease.
Posted at 9:00 a.m.
Known since 1899, Hirschsprung’s disease affects approximately 1 in 5000 newborns. It affects the digestive system of babies, who are born without enteric neurons in the colon wall. “We find in the digestive system a nervous system which controls the movements of contraction and relaxation until the end of the colon. In this case, the neurons have not developed properly and are missing from the end of the colon. So, from birth, the child is unable to pass stools, which eventually leads to death. »
A single treatment has been used since 1948 and consists of surgery that removes the part without neurons to reattach it to the healthy part. An intervention that is not without risk. “Children have surgery even before they are 1 year old. There can be serious sequelae such as faecal incontinence and infections that can be fatal,” says Nicolas Pilon.
The alternative to surgery
During their work, researchers from the CERMO-FC of the University of Quebec in Montreal (UQAM), in collaboration with colleagues from the CHU Sainte-Justine and the Children’s Hospital of Philadelphia, discovered that it would be possible to generate new enteric neurons by stimulating dormant stem cells in the diseased area. “We did tests on mice by administering a molecule that specifically targets and stimulates these stem cells and it worked very well, since enteric neurons quickly appeared,” says Nicolas Pilon, also a professor in the Department of Biological Sciences.
The force of the war
The next step ? Clinical trials in humans. Patience is required, however, since it could take five to ten years to see concrete results. This long wait is due to lack of funding, a particularly stark reality when it comes to orphan diseases. “This molecule is very expensive to produce and its use is limited due to intellectual property issues. The biotechnology company that provided it to us is prioritizing clinical trials for Parkinson’s disease, which require large quantities of the molecule. Since production on a smaller scale for Hirschsprung’s disease is not profitable, we would have to aim for the same volume of production and therefore several million dollars to reach the end of our research,” explains the researcher.
Quebec policy raises hope
It is estimated between 7000 and 8000 the number of diseases that affect less than 1 in 2000 people in the world. In Quebec, this figure would be between 700 and 800. According to Nicolas Pilon, the province is behind in terms of organizing research and the management of these diseases.
PHOTO KARENE-ISABELLE JEAN-BAPTISTE, SPECIAL COLLABORATION
Nearly sixty researchers work at CERMO-FC established at the University of Quebec in Montreal (UQAM). The latter work on more than a hundred diseases, including that of Hirschsprung. Nicolas Pilon, professor and director of CERMO-FC, is part of this team trying to find treatments for these neglected diseases.
We are still struggling with this mentality that because it concerns few people, we should not worry about it. Yet, yes, for a single disease, the number may be small, but when put together, the number is considerable. We are talking about approximately 700,000 people in Quebec!
Nicolas Pilon, Director of the Center of Excellence in Research on Orphan Diseases–Fondation Courtois (CERMO-FC)
“You should also know that it is not because a disease is rare that the associated knowledge and discoveries cannot be applied to more common conditions”, explains the researcher.
Last June, the provincial government presented its policy for rare diseases. This aims to optimize the organization of care and services as well as trajectories for these diseases. Nicolas Pilon welcomes this announcement, but hopes that it will be accompanied by funding. “We need a broader will and there is still a lack of an envelope dedicated specifically to orphan diseases, because at the moment, each researcher is pulling on his side to have his own funding. I also hope that we will finally be able to break down the silos and combine the knowledge of several clinical and basic science disciplines such as chemists and biologists, in order to go faster and further. »