Google
offers a new service where you can look for the latest news on a topic. Here
is a link to a search for Duchenne Muscular Dystrophy. It does not
contain a lot of research related links, but it is very useful I think.
A group in England looked at providing computer to boys with DMD as a way to reduce social isolation. The results looked positive.
K. Davies at Oxford has published a paper on the upregulation of utrophin. The study concluded that utrophin up-regulation in skeletal muscle does not depend on regeneration. Previously it has been showed that mice expressing enhanced muscle calcineurin activity (CnA*) displayed elevated levels of utrophin around their sarcolemma. Researchers at the University of Ottawa showed that elevated calcineurin activity attenuates the dystrophic pathology and thus provides an effective target for pharmacological intervention.
A new study looked at expanding therapeutic strategy based on antisense oligonucleotides (AONs) that induce the specific skipping of a single exon, such that the reading frame is restored.
A MDA study showed that a laboratory
engineered compound that snips out a defect in the gene for the
muscle protein dystrophin was successfully used to treat
dystrophin-deficient mice. You can download the article at Nature Medicine for about $30. I
would like to get a copy if anyone has access to Nature Medicine!
A new study from Denmark demonstrates a novel way to alleviate dystrophin deficiency in mice, and may stimulate the development of new approaches to compensate for dystrophin deficiency in animals and humans. ADAM12 is A Disintegrin And Metalloprotease, previously demonstrated to significantly alleviate the pathology of mdx mice.
Researchers in Italy have published a study on a potential therapy for muscular dystrophy based on the systemic delivery of Muscle-derived stem cells.
Dr. Terence Partridge has a new study published that shows functional amounts of dystrophin produced by skipping the mutated exon in the MDX mouse. Exon 23 on the dystrophin gene.
Decreased bone mineral density and derangement of calcium metabolism were present in DMD patients, and were worsening during corticosteroid therapy.
A study recently completed found that DMD patients with double
deletions within the dystrophin gene have a milder form of DMD.
A case was published in the British Journal of Anaesthesia about acute
heart failure during a spinal surgery.
A MDA study found that secreted proteins
involved in building muscles during embryonic life also play a role in
rebuilding adult muscle after an injury.
A recent study found that in patients on Corticosteroid
therapy by 100 months of treatment approximately 75% had sustained a
vertebral fractures.
An article on the Nature Publishing Group's website shows promise of
Ultrophin working in the Golden Retriever is entitled: Dystrophic
phenotype of canine X-linked muscular dystrophy is mitigated by
adenovirus-mediated utrophin gene transfer.
A study in Germany found that Gentamicin
did not increase dystrophin levels in the MDX mouse. We placed Matt in a
clinical trial at Ohio State a few years back for Gentamicin. I have read
this article and the researchers were not able to reproduce the results
from previous gentamicin studies in the MDX mouse. However, I have also
learned that there is a disagreement over this study. So, at present all
I know is that gentamicin produced lower CK levels and no dystrophin in
human trials to date.
The American Journal of Physical Medicine & Rehabilitation
published an article that looks at predicting predict wheelchair
dependency. The study
found that strength loss, specifically in hip extension and ankle
dorsiflexion, was the determining factor.
An article entitled "Survival in Duchenne muscular dystrophy:
improvements in life expectancy since 1967 and the impact of home
nocturnal ventilation" published in the Neuromuscular
Disorders looks at the impact of nocturnal ventilation on boys with
DMD. This is a link only to the abstract. You have to pay to get the
whole article.
MDA has an
article on the potential for blocking myostatin to help DMD patients.
Scientific American also has an article on myostatin.
Bone
Marrow Transplant is a new research area for treaing DMD. This
article was published in the Journal of Clinical Investigation and showed
that "presence of bone marrow-derived donor nuclei in the muscle of
this patient documents the ability of exogenous human bone marrow cells
to fuse into skeletal muscle and persist up to 13 years after
transplantation."
Here
is a link to a list of clinical trials for DMD on the NIH's website.
Also, on NIH is an news release concerning Stem Cell
research.
NIH has a summary report of the May 15-16, 2002 from the Muscular
Dystrophy Research Task Force
meeting.
Abstract
of study on the expiratory muscle force and the ability to cough
estimated by the peak expiratory flow and peak cough flow in patients
with Duchenne muscular dystrophy. In another abstract
on the use of noninvasive intermittent positive-pressure ventilation.
These are good articles and you can order a copy. The second article is
by Dr. Bach. You can find more on his studies at DoctorBach.
The MDA has a research article concerning Enzyme Blocks
Duchenne MD in Mice. Here
is the link to the article in the Proceedings of the National Academy of Sciences.
New study on Utrophin
is available at The Journal of Cell Biology site.
New gentamicin study - Ohio State is starting up Phase II of the gentamicin
study. They need 36 boys with a stop codon to recieve an injection every
3 days for six months. We will not be putting Matt in this trial. Lets
hope this works. I have my doubts. As you recall, the Phase I testing
showed no dystrophin but did lower CPK levels.
National Institute of Neurological Disorders and Stroke (NINDS) has a
website up on Muscular
Dystrophy. Check it out.
Gentamycin
is antibiotic that may be able to help boys with DMD due to a Stop Codon
causing the problem with Dystrophin producton. Now this problem only
occurs in only 10-15% of the boys with DMD. The rest of the boys have
different types of problems with their dystrophin (deletion of the gene).
The follwing link
explains this in alot better detail and provides additional links to
gentamycin articles. Gentamycin will help the gene ignore the Stop Codon
and produce some dystrophin. We need about 20% of normal dystrophin to
hopefully stop the further deterioation of muscles. Gentamycin will not
be a cure, in that it will not repair muscles already damaged where
fibrosis has set in.
Matt took part in the Phase I Gentamycin clinical trails at Ohio State
University. Here is a summary of
our experience and results. The results were not encouraging. The
muscle biopsy showed no dysrtophin!!!! See the above link for the entire
story.
Another big area of research and hope in the fight to find a cure for
DMD is gene
therapy. Gene
therapy would replace the defective dystrophin gene with a good one.
The The Institute for Human Gene Therapy has alot of good links for gene
therapy.
The
Muscular Dystrophy Association web page can be reached at MDA-USA.
Dr. Hinton of Columbia University in New York City has studied DMD
kids to determine if cognitive abilities are impacted by lack of
dystrophin. Matt participated in this study. Here is a link to the Report.
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