Rare diseases

Pharmaceutical and biotechnology companies play a vital role in developing innovative treatments for rare diseases, including gene therapy, cell therapy, and other advanced approaches.

• Ultragenyx: is a biotechnology company dedicated to developing treatments for rare diseases. It is working on therapies for rare inherited metabolic disorders, among other conditions.
• Theratechnologies Inc. (Montreal, Quebec): is a pharmaceutical company that specializes in the development of drugs for rare diseases, including lipodystrophy syndrome, a rare condition characterized by an abnormal distribution of body fat.

Advances in genetics and genetic testing are fundamental to identifying rare diseases and understanding their genetic origins. Genetic diagnostic laboratories are at the heart of this process. In Quebec, these two factors play an essential role in the management of rare diseases. Several institutions, medical centers, and genetic diagnostic laboratories are engaged in diagnosing rare diseases and identifying the genetic mutations responsible for these diseases.

Génome Québec collaborates with researchers, institutions, and industry partners to support genomics research projects, the development of technologies, and the application of genomics in various fields such as health, agriculture, and the environment. The organization plays a key role in promoting collaboration and facilitates the transformation of genomic discoveries into practical applications that can improve human health and well-being.

In Quebec, research and care are highly integrated in the field of rare diseases due to the scarcity of expertise in this niche. This explains Quebec’s lack of a specific focus and the fact that research spans some twenty therapeutic fields. This broad scope of expertise stems from the fact that researchers and clinicians are addressing the health needs of patients with rare diseases in Quebec.

Generally speaking, Quebec is not specifically recognized for its research on rare diseases. However, it has achieved a higher level of specialization globally in therapeutic fields such as cardiology and hematology, where more than 800 publications were produced between 2010 and 2018, with a specialization index of 1.64 (the global average being 1).

Research in genetics and heredity is also a field that produces a large number of publications, with 580 publications between 2010 and 2018 and a specialization index of 1.79.

Neurology and Neurosurgery accounted for 1,052 publications, with a specialization index of 1.08, while Endocrinology accounted for 306 publications, with a specialization index of 1.54.

However, despite 1,148 publications in Oncology, Quebec does not show a specialization in this field, with a specialization index of 0.63.

Between 2009 and 2019, CIHR, NSERC, and SSHRC awarded $1 billion in research funding for rare diseases in Canada (93% of this amount was awarded by CIHR, and 7% by NSERC). Since Quebec is a province with significant scientific output, it received one-third of the total amount of this funding.

It should be noted that much research is supported by foundations and charitable organizations, but data on this was not available.

Funding has increased in Ontario and Quebec but has remained stable in the other provinces. The gap between Ontario and Quebec has narrowed in recent years.

Several initiatives are now being launched in the field of research to involve patients from the very beginning of the process. Since rare diseases are characterized by a limited amount of health data, it is becoming necessary to involve patients in research. Patients may even receive treatment tailored to their specific condition and thus expect optimized therapeutic outcomes.

The IRCM’s Rare Disease Information and Resource Center brings together patients with rare and orphan diseases to provide better support throughout the care process. This Center also involves patients more closely in their own healthcare as well as in research projects. This innovative initiative is made possible through a collaboration between the IRCM and the RQMO.

In addition to initiating innovative solutions, the Quebec Orphan Disease Network (RQMO) has implemented a Strategy for Rare Diseases in Quebec that places the patient at the center. Among other things, this strategy proposes the creation of a partnership between patients and physicians to make patients active partners in their care journey and the services they receive, while also playing a key role in the training of the physicians who will be part of that journey.

66 companies involved in the development of diagnostic or therapeutic tools for rare diseases in Quebec, operating in four industry sectors (biotechnology, medtech, pharmaceuticals, and R&D services). Of these, 41 are Quebec-based SMEs, primarily biotechnology companies, active in 15 therapeutic areas, particularly neurology, oncology, and cardiology.

Laurent Pharmaceuticals develops treatments for orphan diseases; it is an orphan drug company with a clinical development program focused on cystic fibrosis.

Alethia Biotherapeutics focuses its efforts on invasive carcinomas and cancer-associated epithelial-mesenchymal transition, two conditions for which there are very few treatment options.

Ipsen – Clementia Pharmaceuticals is a clinical-stage company developing innovative treatments for people with ultra-rare bone disorders and other diseases with high unmet medical needs: progressive ossifying fibrodysplasia (FOP) and multiple osteochondromas (OM).

StemAxon has developed expertise in the manipulation and directed differentiation of human pluripotent stem cells into different classes of neurons. STEMAXON can now supply human cortical neurons and photoreceptor cells for the study of neurodegenerative diseases: Alzheimer’s disease (AD) and retinal degenerative diseases.

Theratechnologies is a commercial-stage biopharmaceutical company focused on specialized therapies that address unmet and orphan medical needs in HIV and oncology.

Genome Quebec, whose mission is to catalyze the development and excellence of genomics research, as well as its integration and democratization. A cornerstone of Quebec’s bioeconomy, the organization also contributes to social and sustainable development as well as to Quebec’s global influence.

The IRCM is a relatively independent research institute. The IRCM also houses two clinics specializing in rare diseases in adults. The IRCM distinguishes itself in rare disease research through “drug repurposing,” which involves systematically screening the 1,200 marketed and generic drugs every time a gene is identified at the Institute.

The Montreal Children’s Hospital (MCH, McGill) is dedicated to the clinical care of children with rare neurological disorders. It brings together pediatric neurologists specializing in rare diseases and other specialized clinicians, and receives approximately 4,000 outpatient visits per year, 70% of which involve a rare pediatric neurological disorder.

The Montreal Neurological Institute and Hospital – NEURO is a world-renowned center for brain research and cutting-edge neurological care. Together with the Montreal Children’s Hospital (MCH), it provides a continuum of care from pediatrics (MCH) to adults (NEURO) for rare neurological diseases. Its clinical activities in rare diseases, diagnostic capabilities, Rare Neurological Diseases Research Group, and translational platforms for rare diseases make this institution a pillar of research in this field. In addition, NEURO involves patients in the clinical research process for rare diseases. It brings together leaders in Phase 1 trials for ALS.

The Montreal Neurological Institute and Hospital – NEURO is a world-renowned center for brain research and cutting-edge neurological care. Together with the Montreal Children’s Hospital (MCH), it provides a continuum of care from pediatrics (MCH) to adults (NEURO) for rare neurological diseases. Its clinical activities in rare diseases, diagnostic capabilities, Rare Neurological Diseases Research Group, and translational platforms for rare diseases make this institution a pillar of research in this field. In addition, NEURO involves patients in the clinical research process for rare diseases. It brings together leaders in Phase 1 trials for ALS.

The Quebec Alliance for Rare Diseases (RQMO), whose founding was announced on International Rare Disease Day in 2010, brings together rare disease associations, individuals or family members of people living with a rare disease, and others interested in the cause of rare diseases. The RQMO’s mission is to: provide information and support services for people living with rare and orphan diseases, their families, and healthcare professionals through its Rare Disease Information and Resource Center; collect, share, and disseminate information on rare diseases among the various rare disease associations as well as individuals living with a rare disease; raise awareness among the public and the medical community about rare and orphan diseases, notably through the publication of informational brochures and patient testimonials in print and electronic media, the organization of activities on International Rare Disease Day, and through meetings or booths at various public institutions and events; and to advance knowledge about various rare and orphan diseases by fostering exchanges between patients and researchers.

Founded at UQAM in May 2018, the Courtois Foundation Center of Excellence in Orphan Disease Research (CERMO FC) brings together more than 70 researchers with complementary interests in biomedical and biopharmaceutical research. The center’s objectives are to consolidate research efforts on orphan diseases in Quebec, to develop a collaborative and partnership-based research network for the 100 orphan diseases under study, and to ensure psychosocial care for patients and their caregivers.

There are currently initiatives developing registries and biobanks specializing in rare neurological disorders:

• Biobank and database on neurodevelopmental disorders
• National Cerebral Palsy Registry based at the Montreal Children’s Hospital (MCH)
• Comprehensive epilepsy surgery program