Rare Disease Connect Globally

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Ultragenyx Presented The Findings of Phase 1 Sialic Acid Extended Release (SA-ER) Trial in Australia

Ultragenyx, a biopharma company presented their findings on phase 1 Sialic Acid Extended Realease (SA-ER)tablets at 17th. International Congress of the World Muscle Society earlier this month in Perth, Australia. SA-ER is being tested for Hereditary Inclusion Body Myopathy (HIBM). I participated in this clinical trial last year, therefore the findings are quite personal for me. I am currently participating in the phase 2 trial which will be completed late in 2013. Here, I am attempting to provide a narrative/summary of what I understand from their presentation in Perth, Australia. I have posted the links for those interested in charts and technicalities. As a disclosure, please note I am not a doctor, I am patient directly experiencing HIBM. SA-ER were tested on 26 participants with HIBM. Eight were males and eighteen females. The races/ethnicity were 6 Asians, 20 white, (1 Hispanic/Latino 25 Non-Hispanic). No mentioned was made of Persian/Jewish patients. SA-ER was well tolerated at all given doses with minimal side effects. Depending on the dose levels. SA-ER was absorbed and showed steady amount of sialic acid between 8-16 hours after dosing. They tested SA-ER on the patients when they fasted and with food. Sialic Acid seemed to be in higher concentration with the group that took the medicine with their meals. The evening dose was given closer to the night dose because it is stated that at night time there is protein synthesis and muscle repair, therefore the need for Sialic acid is greater. Besides all these explanations, the one statement I am quite encouraged about is "SA-ER should achieve levels of free Sialic Acid that are expected to correct Sialic Acid deficiency and improve sialylation in the muscles of HIBM patients." Please feel free to send me or write your comments. P.S. Ultragenyx is still recruiting patients for phase 2 SA-ER trial in Los Angeles, New York, Missouri and Israel. http://globenewswire.com/Tracker?data=d6QAld4vepVP7jLm-NEJ9Kbhc9rUIVakuLOTfLBZAFBQWdVKFU9oWPygz-Xe6MYU7lR2sMmxIoUktEeY9c1uczF8F3y9N1PAlpg0rBRAAcBCm4Gr3Jebqm5hEQwRnPosqNDEM0K.8gfRAz-dV3zoX4LRDSYvtdfsa90dnfChvbK8uTPDaK0Rjq439Mc8jDUxhxXhAJKWGDA6mn1dWJjfQdcebeW3fMwZ6oeAHOupszvc6Ptu0NFn7AGJbgM%3D http://www.reuters.com/article/2012/10/10/idUS186788+10-Oct-2012+GNW20121010 http://www.wms2012.com/

National Institutes of Health conducting a Webinar today on Rare Diseases

For all who are able to tune in to this webinar today at 2.30 p.m. eastern time. Please refer to the links below for more details. Undiagnosed Diseases Program - Community Input webinar 10/17/12 2:30 pm ET Start Time: 10/17/2012 2:30 PM ET Duration: 90 minutes URL: https://webmeeting.nih.gov/udp-community_input/ Conference Number(s): 1-800-201-2375 Participant Code: 471324 The Office of Rare Diseases Research- NCATS and the National Human Genome Research Institute are hosting a webinar to provide information to the patient community about a new NIH initiative to expand the Undiagnosed Diseases Program (UDP). In addition, significant time will be dedicated to discussing the issues listed below. We will use the information discussed to help in the selection process of clinical sites for the expanded UDP. This webinar is not to solicit new patients nor to answer diagnostic questions. The physical and financial costs of the diagnostic odyssey What are the major barriers to obtaining a diagnosis? Ready access to specialists, including: Inablity to see a specialist necessary to help obtain an accurate diagnosis Number of specialists seen in order to get an accurate diagnosis Issues getting specialists to talk to each other (coordinated care) Travel requirements (restrictions or limitations due to disease), including: Number of times have traveled out of town to be seen by a doctor when trying to get an accurate diagnosis Number of times have traveled out of state to be seen by a doctor when trying to get an accurate diagnosis Distance needed to travel ever prevented seeing a doctor to get an accurate diagnosis Farthest distance have traveled in order to be seen by a doctor when trying to get an accurate diagnosis Ease of Access to Newer Diagnostic tests, including Problems gaining access to newer imaging or genetic sequencing tests necessary to get an accurate diagnosis Insurance reimbursement issues for costs related to getting an accurate diagnosis Amount of time required to get tests approved by insurance companies/3rd party payers. http://rarediseases.info.nih.gov/News.aspx http://rarediseases.info.nih.gov/files/UDP-%20Questions%20for%20patient%20focused%20webinar%20Oct-2012.pdf