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A Forum on Rare Diseases in Quebec

On February 22, in Montreal, Cystic Fibrosis Canada, in collaboration with the Alliance des patients pour la santé and the Regroupement québécois des maladies orphelines (RQMO), organized a forum on rare diseases. The purpose of this forum was to take stock of the situation in Quebec and propose actions to better support patients living with rare and orphan diseases. More than one hundred individuals, patients, representatives of organizations and foundations, pharmaceutical industry professionals and government representatives gathered for a highly instructive morning.

Ms. Gail Ouellette, President and CEO of the RQMO and Vice President of the Alliance des patients pour la santé, presented the highlights of a proposed strategy for rare diseases developed by the RQMO. In Quebec alone, it is estimated that 500,000 individuals are living with rare diseases and that 1,200 of them have cystic fibrosis (CF). Unfortunately, Canada is one of the rare developed countries that do not have a strategy for rare diseases. As proposed by Ms. Ouellette, such a strategy would allow for the effective management of individuals living with these diseases in various respects: 1) training and information, 2) diagnosis and prevention, 3) medical management, 4) treatment, 5) research and 6) psychosocial management.

Afterwards, Ms. Sylvie Bouchard, Director of the Drug Directorate of the Institut national d’excellence en santé et en services sociaux (INESSS), gave a presentation during which she explained the INESSS’s mandate and prescription drug evaluation process. However, she mainly clarified the recent decision about Galafold, a drug to treat Fabry disease.

In summary, the INESSS’s positive recommendation for Galafold reflects a “paradigm shift […] with regard to the concept of therapeutic value”[1] and, for the first time, makes use of the expression “promise of therapeutic value.”

Indeed, we discovered that, in the future, the “promise of therapeutic value” principle will be used in the field of rare disease treatments. The INESSS will no longer simply assess therapeutic value; it will also rely on clinical monitoring mechanisms. In other words, in the case of rare disease treatments, the INESSS wants to collect real-world data (i.e. from patients) in order to confirm the true value of a drug without restricting access to it.

We had the pleasure of witnessing the INESSS’s openness regarding the assessment of rare diseases and the need for progress in this field. In addition, the presence of Ms. Marilyne Picard, Parliamentary Assistant to the Minister of Health and Social Services, Member for Soulanges and cofounder of Parents jusqu’au bout, was an indication of the Minister of Health’s interest in the problems afflicting people with rare diseases, and we are confident that the message will make its way back to the Minister’s office.

Also, the presence of Mr. Sylvain Gaudreault, Member for Jonquière, showed definite sympathy for the cause of rare diseases.

It is with optimism and determination that we concluded this morning of discussion and that we continue to advocate for a strategy regarding rare diseases.

[1] Institut national d’excellence en santé et en services sociaux. (October 2018). Avis au ministre de l’Institut national d’excellence en santé et en services sociaux – GalafoldMC – Maladie de Fabry [notice to the Minister issued by the Institut national d’excellence en santé et en services sociaux–Galafold™–Fabry disease]. Available here in French only.

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