Rare Disease Month, Upcoming ManNAc Trial, Pertinent GNEM Research, and Learning Resources for GNEM

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• "Life is an opportunity, benefit from it.  Life is beauty, admire it.  Life is a dream, realize it." - Mother Teresa   

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  Rare Disease Month

  Friends, I want to wish you all a very healthy and hopeful 2022.  February is our month, the month when we observe and celebrate Rare Disease Month and Rare Disease Day.  GNE Myopathy is one of more than 7,000 rare diseases.  February 28, 2022 is Rare Disease Day, It is a day to bring awareness to all rare diseases including GNEM.

Rare Disease Day Activities on the Ivory Coast 

GNEM Advocates from our community are bringing a global spotlight on GNE Myopathy this year. GNEM Advocates worldwide including those from Israel,Ivory Coast, India, U.S.A. and Turkey are involved in an awareness campaign to increase public knowledge of what it is like to live with GNEM.  Please see this link for many  GNEM activities.  Facebook Group for Indian activities.   If possible, "help show your stripes", and support this day by checking out activities taking place in your area at Rare Disease Day website..

GNEM Research

There are a number of impressive and encouraging developments in progress for GNEM.  Although, there has been a pandemic for a while, it does not mean GNEM research is on break. As a matter of fact, the researchers continue their studies in order to find an effective therapy for us. Here are some positive updates on current research progress and upcoming research projects for GNEM. 

1. The Multi-center Study of ManNAc for GNE Myopathy (MAGINE) is estimated to start on February 28, 2022.  This study will last for approximately two years and will recruit fifty-one GNEM patients.  Link for more details.

2. World Without GNE Myopathy (WWGM) has received funding from the government of India to start a research project for a potential treatment for GNEM.  Read more at WWGM Facebook Page

3. Neuromuscular Disease Foundation (NDF) which is at the forefront to bring about a cure for GNEM, is working on a pre-Investigational New Drug, a required step towards conducting necessary studies before treating patients. Link for detailed information.

4.  Research  continues by Dr. S. Mitrani-Rosenbaum on the "Status of GNEM Mouse Model, "Pre-Clinical Assessment of AAVrh74MCK GNE Viral Vector, Therapeutic Potential Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy."  Link for this article.

5.  ProDGNE plans to develop a "substrate replacement" to treat  GNE Myopathy.  This project is in the early clinical stage.  Link for more on this research.

Links to GNEM Learning Resources:

NDF Speaker Series.

World Without GNE Myopathy

Published article on Phase 2 ManNAc results.

As part of bringing awareness to GNEM, my family's story was profiled on Rare Disease Day website.