Myelofibrosis is the rarest as well the severest of these disorders, affecting only one to two new cases per 1,000,000 Canadians. For patients with rare disorders, there are insufficient national resources to help them receive necessary information, to have their disorders properly diagnosed and treated, or to have a voice in health care policy decisions.  

"The program will help in dealing with some of the complex aspects of disease management, such as diagnostic issues, access to expertise for decision making regarding treatment options..."

On the healthcare side, the challenge in treating an MPN patient is that physicians care for so few patients with rare blood or bone marrow disorders. More challenging is the limited number of healthcare professional positions available in the area of MPNs because of the rarity of the disorders. This discourages healthcare professionals from pursuing specializations in this discipline because of the anticipated difficulty in finding a job. Adding to the complexity of MPN treatment is the fact that Canada lacks a properly funded national mechanism to treat rare disorders; however, groups like the Canadian Organization for Rare Disorders (CORD) advocate on behalf of these patients to ensure that their needs are incorporated into health care policies.

Research and clinical trials

A key discovery of the mutation in the JAK2 gene in 2005 led to better understanding of these leukemias, and paved the way for new drug discoveries. The leukemia program at Princess Margaret Cancer Centre in Toronto started focusing in the area of MPNs in 2008, and to date, has participated in 18 interventional clinical trials. It was only in 2011 when the very first drug, Ruxolitinib, was approved in Canada for the treatment of myelofibrosis. Research and clinical trials are now focused on combinations of Ruxolitinib with other drugs, stem cell directed therapies that target the origin of the disease, and new generation drugs which offer superior efficacy or better safety profiles than current drugs on the market. While most drug therapies address the symptoms of blood and bore marrow disorders, the only curative treatment for disorders like myelofibrosis are bone marrow transplants, which are naturally difficult due to the involved risks. Dr. Vikas Gupta at the Princess Margaret is leading an international trial funded by the National Institute of Health that “combines new medications in transplant protocols to see if they will help improve the success of bone marrow transplants.”

A new era for rare blood disorders

The Myeloproliferative Neoplasm Program was recently established at the Princess Margaret Cancer Centre. According to Dr. Gupta, “the vision is to act as a national resource that offers consultative services, education to patients and families, and research and clinical trials.” The program will help in dealing with some of the complex aspects of disease management, such as diagnostic issues, access to expertise for decision making regarding treatment options, creating a management plan, and access to novel therapies through clinical trials. The idea is to provide these resources and then put the patients back under the care of their physicians in the community with ongoing support.