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End of 2013 With Promising Developments in Research and Trials of HIBM/GNE Myopathy

Dear friends, family and readers:
I wish you a joyful conclusion to 2013 and  may 2014 bring you joy, good tidings, and peace. I continue to forge ahead  with my participation in a clinical trial for HIBM.
There has been some progress with the clinical trials conducted by NIH and Ultragenyx Pharmaceutical.  NIH concluded the phase 1 trial with ManNac and will be starting phase 2 in the near future.  Ultragenyx Pharmaceutical has concluded extended phase 2 with the Sialic Acid Extended Release SA-ER tablets and has started patients on Sialic Acid Immediate Release (SA-IR) in addition to the SA-ER tablets.  The total dose per day is 12,000 mg. In addition to the 46 patients who were in the trial already, they are recruiting 10 new patients -"treatment naïve subjects" (those who have never taken sialic acid)  for this current trial.  Here is the link with the details.


Ultragenyx Pharmaceutical  found the following based on preliminary data in phase 2 trial which is quite promising.
"Similar to the results observed at the 24-week interim analysis, at 48 weeks the
comparison of the upper extremity composite of muscle strength for the combined
group of patients on 6 grams showed a modest increase and a statistically significant
difference relative to the decline in strength observed in the combined groups on 3
grams. In the 6-gram cohort treated for 48 weeks, the modest increase in upper 
extremity strength observed at 24 weeks was sustained relative to a further decline in 
the comparable 3-gram group. These changes were more pronounced in those patients
that have less advanced disease as assessed by a greater walking ability at baseline, a
predefined subset. The lower extremity composite did not show a statistically significant
difference between the dose groups, but neither group showed a significant decline
during the treatment period."

These 48 week data suggest that 6 grams per day of SA-ER is mitigating the normally 
expected decline in upper extremity muscle strength,” said Emil Kakkis, M.D., Ph.D.,
Chief Executive Officer of Ultragenyx. “The maintenance of this effect from the 24-week
data is encouraging. Given the difference between the dose groups and good safety
profile, we plan to test an even higher dose of sialic acid in these patients who have no
other approved treatment options.”
I have attached the link of their complete press release here.

The acronym HIBM (Hereditary Inclusion Body Myopathy) has been widely used to describe the muscle wasting disease and  also has been confused with another disease, therefore the name of HIBM is now changed to GNE myopathy which more accurately defines this disease as it is on this gene - GNE where the deficiency happens. I will gradually change my blog name to "Tara Talks GNE Myopathy". Here is some discussion on this topic.

"There is confusion in some circumstances with the very similar names of two quite different medical disorders; Inclusion Body Myositis and Hereditary Inclusion Body Myopathy. This press release is to advise that Inclusion Body Myositis is NOT THE SAME as HIBM (myopathy). Because of this confusion, NZP supports the name change of Hereditary Inclusion Body Myopathy (HIBM) to “GNE myopathy” (see; http://dx.doi.org/10.1016/j.ymgme.2012.10.011).
Myositis is a mostly inflammatory muscle disease and mostly occurring sporadically in elderly people. There is no inflammation in HIBM/GNE myopathy and GNE myopathy has a much earlier onset than myositis. Also HIBM/GNE myopathy is a genetic disease, while for Inclusion Body Myositis no common genetic component has been identified.
To make the names more confusing, inclusion body myositis is abbreviated as sIBM (sporadic inclusion body myositis). More about sIBM can be found at: http://omim.org/entry/147421.
In some publications, Inclusion Body Myositis is called IBM1 and HIBM/GNE myopathy is called IBM2."


"GNE myopathy, previously termed hereditary inclusion body myopathy (HIBM), is an adult-onset neuromuscular disorder characterized by progressive muscle weakness. The disorder results from biallelic mutations in GNE, encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, the key enzyme of sialic acid synthesis. GNE myopathy, associated with impaired glycan sialylation, has no approved therapy. "


Best wishes for 2014.

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