SHORE - Sephardic Health Organization for Referral and Education

NEWS:

Yoga for SHORE 2013
The Yoga for SHORE is a special event to promote awareness of sephardic genetic diseases in our community. This event will take place on Friday, June 7th starting promptly at 10:00am. The one-hour yogi-barre class is for all levels to enjoy at Steppingstone Park (38 Stepping Stone Lane, Kings Point, NY). Just dress comfortably, come with an open mind and expect to have a beautiful time.
To register go to the event link: LET'S YOGA!

Ultragenyx HIBM Phase 2 Clinical Trials is underway!
The Phase 1 study conducted by Ultragenyx Pharmaceutical for the use of Sialic Acid Extended-Release (SA-ER) is now complete! The trial was perfomred on 26 subjects with favorable results. For more information about the study results go to Ultragenyx News

Ultragenyx Pharmaceutical is now starting the Phase 2 trial to evaluate the dose and pharmacodynamic efficacy of SA-ER for the treatment of HEREDITARY INCLUSION BODY MYOPATHY (HIBM), also known as GNE Myopathy or Nonaka Myopathy. If you or someone you know has been diagnosed with HIBM and are interested in being part of the trial, click on the following link for the contact details: Ultragenyx Clinical Trials

Survey Regarding Genetic Issues in Persian Jewish Community
If you are of Iranian descent please take a few minutes of your time to fill out an important survey conducted by Synageva and Engage Health: Survey Regarding Genetic Issues in Persian Jewish Community
Note: For each completed survey a donation will be made to a patient organization related to these issues.

NIH HIBM Natural History Study
The goal of this research study is to better understand the signs, symptoms, and clinical course of HIBM and to develop better tests to measure the progression of the disease.

Synageva Clinical Trials for LAL Deficiency (Early and Late onset)
SBC-102 is a recombinant human lysosomal acid lipase (LAL) with the same amino acid sequence as the human lysosomal acid lipase enzyme. SBC-102 has been shown to reduce lipid substrate levels in diseased tissues and correct disease abnormalities associated with deficiency of the LAL enzyme, including growth failure and liver pathology in a disease model of LAL Deficiency. Human clinical trials in patients with both early onset and late onset LAL Deficiency, also known as Wolman Disease and Cholesteryl Ester Storage Disease (CESD) respectively is underway. To participate in these trials
click here for more information.