12:49pm Friday 17 January 2020

New clinical genetic test for muscle disorder to be launched

(TORONTO) –  The Centre for Addiction and Mental Health (CAMH) has signed a licensing agreement with a Massachusetts firm to develop and market an innovative genetic test for a recently identified degenerative muscle disorder. The disorder tends to strike adults in their early 30s.

CAMH has applied for international patent protection for the diagnostic test developed by CAMH scientist Dr. John  Vincent and co-inventors. The test is being developed by Athena Diagnostics Inc. of Worcester, Massachusetts, part of publicly held Thermo Fisher Scientific Inc. CAMH and Athena Diagnostics signed a licensing agreement in December 2009 that could make the test available to physicians by January 2011. The test will be marketed in Canada, the US, and Japan.

Physicians using the test will collect a small blood or saliva sample. They will send the sample to Athena Diagnostics for testing to identify mutations on the FHL1 gene. Genetic counsellors will assist the physician to interpret the results for the client and family members, to advise whether family members and offspring are at risk of inheriting the gene.  

Linked to FHL1 gene 

“Our test is for a specific muscle disorder that was recently identified. The disorder, which we call X-linked myopathy with postural muscle atrophy (XMPMA), is among the dozens of muscular dystrophies and other like conditions with similar symptoms. For that reason these disorders can be challenging to diagnose accurately,” says Dr. Vincent. “The CAMH-Athena test is a new tool to help the physician confirm or eliminate a diagnosis of this XMPMA.”

The development parallels recent research on similar movement disorders associated with mutations on the FHL1 gene, which is located on the sex-linked X chromosome carried by both females and males. Female children of carrier mothers are at 50% risk of becoming carriers; male children of carrier mothers will have a 50% chance of becoming affected with the disease.

“Identifying FHL1 mutations as responsible for XMPMA and related disorders was an important recent discovery, as was identifying this particular type of muscle disorder,” says Dr. Vincent.  “The next step is making an easy-to-use diagnostic tool available to clinicians.”

Dr. Vincent is a scientist at CAMH whose research focuses on the genetic causes of inherited diseases, including some forms of intellectual deficit and autism as well as musculoskeletal disorders.  His co-inventors on the test are colleagues from Austria, Drs. Christian Windpassinger and Stefan Quasthoff. Funding support for creation of the test came from the Ontario Ministry of Research and Innovation and the CAMH Foundation.

Licensing partner  

 “This licensing agreement between CAMH and Athena Diagnostics shows how our CAMH research program helps individual patients and their families, in Canada and internationally as well,” says Dr. Bruce G. Pollock, VP of Research at CAMH.

“We are thrilled that Dr. Vincent and his colleagues were able to take recent genetics advances and quickly develop an important new test option for affected families. Athena Diagnostics’ expertise in the manufacture and marketing of clinical tests makes it an excellent licensing partner for us,” Dr. Pollock adds.

The cost of the test – which will be available only through clinical services – has yet to be determined.


Media contact: Michael Torres, Media Relations, CAMH at 416 595 6015 or media@camh.net.

Athena Diagnostics is a reference laboratory dedicated to the development and commercialization of diagnostic testing for neurological, endocrine, and renal disorders. Using innovative technologies, Athena provides physicians with diagnostic answers that can improve the quality of health care for patients in a cost effective manner.

The Centre for Addiction and Mental Health (CAMH) is Canada’s largest mental health and addiction teaching hospital, as well as one of the world’s leading research centres in the area of addiction and mental health. CAMH combines clinical care, research, education, policy development, prevention and health promotion to help transform the lives of people affected by mental health and addiction issues. www.camh.net

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