The case is rare. A research project was initiated by two mothers whose babies had Krabbe disease.
Krabbe disease is rare. Its incidence would be between 1 / 100,000 and 1 / 250,000 births. But its consequences are disastrous for newborns who are affected; their life expectancy often does not exceed a few months. In 2015 two babies, in Quebec and in France, contributed to publicize this pathology which attacks the central nervous system. Thanks to the mobilization of the mothers of Louis and Ayden, research could take a big step forward in understanding this disease. They have indeed enabled the creation of a research project, piloted at the University of Quebec in Montreal (UQAM), by Catherine mounier, researcher specializing in lipid metabolism.
Glimmer of hope for Ayden and All for Loo. These two Facebook pages may not be foreign to you. They were the support for fundraising widely relayed to help Louis, a little Quebecer, and Ayden who lives in France. If Louis died at the age of 3 and a half in August 2016, the fight of his mother Lynda-Marie continues. Alongside Morgane, Ayden’s mother, and Catherine Mounier. “It all started with an email from Lynda-Marie,” recalls the researcher. She had done a lot of research on the Internet and found that I had worked a few years ago on a lipid compound that was of particular interest to her. “
Specific diet
This compound, Lynda-Marie is convinced that it played a role in improving the state of health of her son, during his last months of life. She had decided to introduce it into her diet after finding scientific arguments in the literature. The molecule had already given some results in cases of neurodegenerative diseases, such as Alzheimer’s. “I am amazed by these mothers, who have no initial training in science, and who have reached such a level of understanding of the biological phenomena linked to the disease”, notes, admiring, Catherine Mounier.
Intrigued by the observations reported by Lynda-Marie on Louis’ progress, the scientist in turn launches into bibliographical research. “Before considering any project on the subject, it was necessary to assess the feasibility and scientific relevance.” The researcher is convinced: “There are very good reasons to think that this compound could help improve the quality of life of these children”. She insists, however, that the objective is not to develop a curative treatment: “It’s a bit like cystic fibrosis; this disease is still fatal, but science has made it possible to extend life expectancy and patients to live with it better ”.
Subject neglected by research
However, financing a research project on a rare disease remains a challenge. Few academic funds are dedicated to these themes. “There are very few scientific publications on this disease,” notes Catherine Mounier. It is thanks to the fundraising organized in France in December 2015 by Ayden’s parents that the project will finally be launched. Morgane, Ayden’s mother, had contacted Lynda-Marie and was in turn testing the diet including the famous lipid compound. By observing the progress of her son, the Frenchwoman was convinced that it was necessary to support research on this molecule. She then decided to donate part of the money collected to UQAM.
Everything then went very quickly. Catherine Mounier reinforced her research team with an assistant, specializing in brain cells, in particular astrocytes, which are affected in Krabbe disease. It has also recruited a doctoral student, who arrived from France in the fall of 2016 and who will devote his thesis to the project.
Transgenic mice
“We were very lucky, because an American researcher had already created, a few years ago, a mouse model reproducing the genetic mutation involved in Krabbe disease,” explains the researcher. Without it it would have been unrealistic to go for it; to create a transgenic strain is too long and expensive. “
The first mice made it to the lab and started to reproduce. We will have to wait a few more weeks before we have the necessary number of transgenic animals. “We must succeed in spotting sick animals very quickly, because their life expectancy is only 21 days on average,” explains Catherine Mounier. A detail that could complicate the task of scientists. The team remains confident, however, and hopes to obtain initial experimental results in the coming months.
The next step will be the testing of different diets on animals to assess the potential benefits of this lipid compound, as well as its side effects. Beyond a certain dose, the product would in fact be toxic to the liver. “Lynda-Marie helps us a lot to establish the protocol. We are basing ourselves on what she experienced with Louis, this allows us to save a lot of time, ”notes Catherine Mounier, delighted that the mother can be fully integrated into the project. “She even took training to get permission to go and help our doctoral student at the animal facility! “
Ayden’s parents also remain involved in the project, but their energy is currently focused on a new fundraising to allow the two-year-old boy to participate in a US clinical trial, in the next few months.
.
