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Canadian SMA researchers are leaders in their
field. We are proud to support them, and grateful for their dedication
to the effort of finding a cure for SMA.
Since its inception in 2000, FSMAC has funded and committed to
$2.2 million in SMA research here in Canada. Our success has been
possible due to the many family members from across the country
working with us to organize and host fundraising events.
(For the latest SMA Research News, please check the
FSMA-USA website )
Here is a list of the research projects that FSMAC has funded in
2008 & 2009:
2007-2008
Dr. Rashmi Kothary, Ottawa Health Research Institute
""Establishment and Characterization of Primary Motor Neuron
Cultures from an SMN Hypomorphic Series of Mice"
Dr. Jocelyn Cote, University of Ottawa, "A Role for
Arginine Methylation in the Regulation of SMN Activities"
Alex E. MacKenzie, M.D., Ph.D., Children’s Hospital of Eastern
Ontario. This project will assess the potential efficacy of a
new drug candidate found in the lab in a panel of SMA cellular
assays.
Jean-YvesMasson, Ph.D., Laval University - DNA
damage signaling and repair in Spinal Muscular Atrophy. This
project aims to understand how DNA damage can affect SMA pathology
because proteins involved in DNA repair are sometimes physically
linked to the SMN protein, and neurons in general suffer naturally
from a high level of DNA damage.
2008-2009
Dr. Guy D’Anjou, Centre de recherche, Hôpital Sainte-Justine,
Montreal, Quebec & Louise Simard, University of Manitoba, Winnipeg,
Manitoba are both working as part of the Project Cure SMA Team.
The present day work is a "Multi-center Phase II Trial of
Valproic Acid and Carnitine in Patients with Spinal Muscular Atrophy
(SMA CARNI-VAL Trial)" Specifically this trial will assess
the safety of VPA and L-Carnitine in infants and develop improved
methods to assess the strength and motor abilities of severely
affected infants.
Louise R. Simard, Ph.D., University of Manitoba, Winnipeg,
Manitoba Canada & Christina, B. Brahe, PhD ., Istituto di Genetica
Medica, Rome, Italy; - SMN Biomarker: Towards a validated
international Standard Operating Procedure. The combined
efforts of active clinical research worldwide have facilitated the
development of reliable and reproducible clinical tools, including
assays to monitor potential biomarkers to monitor drug response.
This project aims to develop an international standard operating
procedure to determine whether SMN RNA levels are altered in SMA
patients participating in clinical drug trials. In addition, these
procedures will be very useful for testing the effects of drugs in
SMA cell lines and SMA mice. Co-funded by Famiglie SMA in Italy
Jean-Yves Masson, Ph.D., Laval University - DNA
damage signaling and repair in Spinal Muscular Atrophy and neuronal
cells. Spinal Muscular Atrophy affects the motor neurons
which influence the voluntary muscles that are used for activities
such as walking and swallowing. However, although the SMN gene has
been identified as responsible for this disease, how mutations in
SMN lead to SMA is still unclear. We found that proteins involved in
DNA repair are directly linked to SMN. This proposal aim to
understand how DNA damage can affect SMN and consequently SMA since
neurons suffer naturally from a high level of DNA damage.
2009-2010
Jocelyn Cote, Ph.D., University of Ottawa -
Quantitative Proteomic Study of the Motor Neuron SMN Complex.
Background: Loss of a protein named SMN (for “Survival of Motor
Neurons”) causes SMA. SMA results in the loss of function of spinal
cord motor neurons, which are the cells responsible for voluntary
movements. Research in recent years has identified an essential
function for the SMN protein, which should be equally important for
all cells in the body.
Primary Research Question: How does the loss of SMN result in a
motor neuron specific disease?
Research Plan: Our current research strategy will use novel,
state-of-the-art approaches to identify the proteins that interact
specifically with SMN in motor neurons.
Anticipated Results: Identification of new interactions with the SMN
protein may provide crucial insights into the function of SMN
important for motor neurons and to the etiology of SMA. Identifying
SMN interactions will also help identify new targets for the
development of novel approaches for therapeutic intervention.
April 21, 2008 - Families of SMA and Project Cure SMA are
excited to announce a new clinical trial designed to evaluate the
combination of Valproic acid (VPA) and L-Carnitine for the treatment
of SMA in infants with Type I SMA, called Carni-Val Type I.
This trial will assess the safety of VPA and L-Carnitine in infants
and develop improved methods to assess the strength and motor
abilities of severely affected infants. This study is being fully
funded by Families of SMA. This is a multi-center trial; the centers
now enrolling patients are listed on the
Project Cure SMA website.
(Funding for the site in Montreal in Canada is being provided by FSMA
Canada.)
Patients who can enroll in this study are
- infants with SMA Type I,
- ages 2 weeks to 9 months at time of enrollment,
- who have clinical features of SMA confirmed by genetic testing.
Subjects will not be able to participate if
- there is evidence of other organ disease,
- medications intended to treat SMA are being used,
- medications that might interact with VPA are being used, or
- participation in other treatment studies of SMA within the
previous 30 days has occurred.
Because travel for infants with severe SMA is often difficult,
study site investigators will be looking to enroll subjects who live
close to the individual centers.
If you are interested in participating in this study, please
contact the clinical coordinator at a particular site closest to you.
Contact information for coordinators and more details regarding
eligibility criteria and potential enrollment can be found at both
www.projectcuresma.org and
www.fsma.org
Note:
Funding for the site in Cologne in Germany is being provided by the
"Initiative Forschung und
Therapie für SMA".
Funding for the site in Montreal in Canada is being provided by "Families
of SMA Canada".
These research articles were written by Canadians for
FSMA:
See also
March 25, 2009 |
