A Couple Participating in the Boston Marathon Will Help us Raise Awareness for Gne-Myopathy

A couple (Mike and Christine) runners who will be participating in the Boston Marathon has graciously "adopted" me as partner/patient. One of my goals is to bring an understanding, and increase the awareness of gne-myopathy globally.  We are very fortunate, in addition to recent attention our disease has been given, and now two runners will represent us in the Boston Marathon.   This event is coordinated with the National Organization for Rare Disorders.   Please share their web site, and donate if you can.

http://www.firstgiving.com/fundraiser/Donabedians/2015-running-for-rare-diseases-team

Not only they will run for gne-myopathy, the funds raised will be given to The National Institutes Of Health.

"All the funds raised for NORD through the Running for Rare Diseases Team will support the Genzyme/NORD NIH Undiagnosed Diseases Program (UDP). As many rare disease patients must endure a long odyssey before finally receiving an accurate diagnosis, the entire Running for Rare Diseases team is passionate about enabling early diagnosis for those living with mysterious, rare conditions.The new fund will pay for the medical testing for individuals who cannot afford the basic medical work-up needed to make them eligible to apply for the UDP. We are thrilled to be able to provide this patient assistance program to support patients who have exhausted all other avenues to seek a diagnosis!"

Thank you Mike, Christine, and NORD for this wonderful opportunity. Tara

National Institutes of Health is Recruiting Patients For a ManNac Clinical Trial

Here is what many patients were waiting for and this is a very important opportunity to take part in this clinical trial that will take place at the NIH in Bethedsa, Maryland, U.S.A.  Please let me know if you need some one to assist you in getting in touch with the researchers due to language barriers or time zones.  Here is the information with the link at the end of the text.

An Open Label Phase 2 Study of DEX-M74 in Subjects With GNE Myopathy

Objective:

- To evaluate the safety of 90 days of DEX-M74 given by mouth.

Eligibility:

- Adults ages 18 60 diagnosed with GNE myopathy.

Design:

• Eligible participants will be admitted to the NIH Clinical Center for the first visit and will stay 10 14 days. Participants will have:
• Medical history and physical exam
• Electrocardiogram to measure heart function
• Blood and urine tests
• Muscle strength tests
• Magnetic resonance imaging (MRI) muscle scans. Participants will lie on a table that slides in and out of a metal tube that takes pictures
• Questionnaires
• Muscle biopsies. Samples of muscle will be taken, one each from the arm and leg.
• The study drug as a liquid twice a day
• Participants may wear a small activity monitor throughout the study. It can be worn on a waistband.
• After discharge from the initial visit, participants will take the study drug at home. Participants will need to record if they miss any doses.
• Visit 2 will be at 6 weeks for 1 2 days of medical evaluation. Blood samples will be drawn.
• Visit 3 will be at the end of the study. Participants will stay in the NIH Clinical Center for 5 6 days for medical evaluations, muscle tests, and scans. Another muscle biopsy will be taken. Blood samples will be drawn.
• Participants will be contacted by telephone or email about 4 times after leaving the clinic.

https://clinicaltrials.gov/ct2/show/NCT02346461?term=hibm&rank=10