Mission Statement

Doctor
"With the support of the Dean of the UBC Faculty of Medicine and doctors from Vancouver General Hospital, BC Children's Hospital and UBC Hospital, we will establish an international consortium dedicated to the field of metabolic myopathies to support and expand research already ongoing across Canada as a first step toward a world class research and diagnostic facility at UBC Hospital."

Someone once wrote: "If you take all rare diseases together, they are more prevalent than all cancers and AIDS combined. They affect tens of millions of people."

Pompe disease is one of those rare diseases, one of many types of genetic disorders affecting muscle cell function, called metabolic myopathies.

There are two types of Pompe disease, Infant-onset and Late or Adult-onset. Infants usually die before they are a year old and children by age 5 or 6. Adults end up in a wheelchair and on a respirator and eventually die from it as well. Pompe is included under the Neuromuscular Diseases of the Muscular Dystrophy Association.

At the time of this writing my son Brad is one of only 13 people in Canada who has been diagnosed with Pompe disease. He has Adult-onset Pompe. It is my intention to donate $1 million of my artist's royalties from the sale of the Canada West Collection to the UBC Hospital Foundation to find a cure for this as well as other rare metabolic mopathies. John Crittenden

Doctor's Summary

The Problem

Physical activity is something that we often take for granted - a day hike in the Rocky Mountain Foothills can be undertaken without more than a moment's thought. For a patient with myopathy, this freedom is curtailed by fatigue and debilitating pain that limits participation in such activities.Until we find a cure for each of the metabolic myopathies we can help these patients to do more, do it faster, stronger and for longer than they could have previously imagined - but these goals cannot be achieved without research. Excellent research laboratories and scientists are available to do this research in Canada. But while basic science and clinical trials are ongoing in Canada, progress remains limited for clear reasons: each research centre sees only a small number of metabolic myopathy patients most of whom have a unique problem of varying severity. Any proposed treatment for such patients cannot be properly evaluated outside of a dedicated, fully equipped and funded, research facility.

The Solution

A team approach is required: a Canadian consortium of researchers could work in concert to overcome these barriers. Such a consortium would allow all patients with myopathy to benefit from:

A) state of the art diagnostic facilities so we know who has each disease and can define how severely they are affected;

B) large scale therapeutic trials so we can definitively determine which patients benefit, and according to what measure.

This coordinated approach will allow us to cut to the chase in getting to optimal therapies to enable metabolic myopathy patients to be as active as possible without further damaging their precious muscles until a cure is found.

The Program

The Art & Science project is a large program that will continue for many years. It is unique in it's scope and promise. The objectives are specific and the challenges are obvious.

Phase one: the Consortium

The new Canadian Metabolic Myopathy Research Consortium (CMMRC), international in scope and membership, will transform how clinical research into rare metabolic myopathies is conducted in Canada, ultimately enabling researchers across Canada to discover and provide new treatments to patients more efficiently and quickly.

CMMRC will allow patients in Canada with myopathy to benefit from the many advantages of local diagnostics including but not limited to: faster results; patient privacy issues are avoided; local expertise translates into better care for metabolic myopathy patients.

Phase two: Diagnostics

Patients in British Columbia have limited access to genetic testing to identify the gene problem causing mitochondrial disease so that, in more than 85% of the cases, the gene problem in that particular patient can not be identified. Access to diagnostic testing for metabolic myopathies needs to be improved in British Columbia and Alberta.

This phase consists of purchasing the necessary diagnostic equipment under directions of the hospitals involved.

Phase three: Research Facility

The objectives of the research facility will be to conduct bench research into mitochondrial diseases and assist in testing and field trials to support the work of the Consortium.

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