Patient Awareness

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GNE Myopathy International (GMI) and World Without GNE Myopathy (WWGM) members and advocates are very proactive in increasing the awareness of GNE Myopathy worldwide. Members and advocates are reaching out to patients and their families in many countries. We believe collectively we will cure GNE Myopathy through advocacy, education, and research.

Patient Webinars

GMI and WWGM have organized and conducted many activities to increase the knowledge and awareness of GNE Myopathy in communities worldwide. Amongst one of our successful endeavors is our webinar series which we started in 2016. These are organized and moderated by the GMI team with help from patient volunteers. The webinars are very informative and have enabled patients to offer their input and knowledge on ways we can move forward towards an effective cure. The webinar series has also served as a platform to bring patients from across the globe together. We hope that through these webinars we can create a network of informed patients who will actively participate in getting an effective treatment for GNE Myopathy.

First Patient Webinar

Title- "GNE Myopathy Therapies: A Critical Analysis of Current Knowledge"
WWGM Managing Trustee, Professor Alok Bhattacharya was the presenter for the first webinar (held on September 17, 2016). He discussed various treatment options for GNE Myopathy. He concluded that the way forward would be to focus on those potential therapies (for other diseases) that are in an advanced stage of development (e.g. with ongoing clinical trials) and could be adapted for GNE Myopathy, are effective and affordable. It would be faster and easier to bring such therapies to the market for GNE Myopathy patients.The webinar was attended by over 20 participants from various parts of the world such as Europe, the Middle East, India, Pakistan and North America. Patients also shared their experiences with various therapies. Some reported small scale success with stem cells treatment, and some were eager to know what kind of exercises would help to save active muscles.Here are the slides from this webinar.

Second Patient Webinar

Title- “Moving the Needle (On Advances) in GNE Myopathy”
The second webinar was held on December 3, 2016. The speaker was Lalé Welsh, CEO of the Neuromuscular Disease Foundation (NDF). This webinar was quite informative and hopeful for the future. Ms. Welsh informed patients about the role of NDF as an impartial representative of the patient community. She discussed the current and the future state of treatments for GNE Myopathy such as the ongoing clinical trials for Sialic Acid (phase III clinical trial results expected in late 2017) and ManNac (phase III of the clinical trial expected to begin in 2017) as well as the potential for gene therapy and stem cell therapy. She explained that the NDF are conducting Pre-Investigative New Drug (IND) work for submission to the US FDA for clinical trials for gene therapy. The NDF will also investigate avenues for stem cell therapy in 2017.This webinar was attended by over 25 participants from various parts of the globe including Israel, Italy, Saudi Arabia, Pakistan, India, the U.S.A, U.K. and the U.A.E.Subsequently, members of WWGM, Alok Bhattacharya and Shilpi Bhattacharya briefly discussed the results of a Patient Survey on GNE Myopathy Treatments.

Third Patient Webinar

The third patient webinar was held on January 28, 2017. A summary of the webinar follows.

Title: Stem Cell Therapy for GNE Myopathy
Speakers: Dr. Todd Malan,
Centre for Regenerative Cell Medicine, Arizona, USA
Prof. Alok Bhattacharya,
Jawaharlal Nehru University, New Delhi, India
Ms Roberta Cirisyan- Patient, Turkey

Stem cell therapy holds great promise for diseases like GNE Myopathy which have no satisfactory cures yet in sight. Stem cells are thought to be one of the possible cures for GNE Myopathy and many other similar diseases. Nevertheless, controversies exist regarding safety of stem cell transplantation, which make it exceedingly difficult for patients to arrive at a decision regarding the use of this therapy. The webinar was intended to illuminate the patients about current status of stem cell therapy and its actual application. It was attended by 45 participants from all over the world. We hope the patients obtained useful information from this webinar to help them arrive at their own decisions.
An account of the webinar, and some lessons learnt is as follows.
Dr. Todd Malan's talk was titled Clinical aspects of Stem Cell Therapy. He talked about the use of stem cells that are present in adipose (fat) tissues of our body. He explained that stem cells exist in most of our tissues and are used by the body to repair tissue damage. However, when damage is extensive, as happens in GNE Myopathy, the resident muscle stem cells may be too few to be effective. Thus stem cell therapy relies on jacking up the available cell number by transplanting stem cells into the patient. From the early days of stem cell therapy the technology has greatly advanced and it is now possible to introduce hundred million cells in a way that their effect lasts for longer periods. He indicated that positive effect if seen, may be due to release of a variety of growth promoting and tissue healing substances which help in repairing tissue damage by activating stem cells present in the tissues. According to him, it is unlikely that the transplanted stem cells actually reach target sites and then convert into specialized cells. Since the stem cells used are autologous- that is taken from the patient’s own fat tissue, the problems associated with graft rejection and other complications are avoided. Since the stem cells also carry the same genetic mutation of the patient, the beneficial effects of a single introduction of stem cells (if any) are likely to wither away after a period of time (which would vary for each patient). This would necessitate repeated injections of stem cells as and when required. Dr. Malan informed that stem cells taken from the patient can be briefly expanded in the lab and stored frozen for future use. From the safety studies conducted by them and others no adverse effects of repeated injections of stem cells have been reported so far though it is not clear if long term (more than 3 years) follow up has been done on patients that have seen these cells. Extensive data on stem cell efficacy is not available as most of the completed studies have been done to determine safety issues. Due to lack of funding, phase 2/3 clinical trials have not been carried out. Dr. Malan graciously offered to share his clinical protocol of stem cell administration with doctors in other countries whom patients might approach for this therapy.
Prof. Alok Bhattacharya's talk was titled Stem Cells: Myth and Reality. He gave an overview of the different types of stem cells (for example, embryonic, induced pluripotent, mesenchymal), obtained from the patient (autologous) or from another person (allogeneic). He described the current advances in stem cell therapeutic applications, including clinical trials. A large number of trials are in phase I/II stages and involve mainly autologous stem cells. Some clinical studies have indicated that autologous mesenchymal stem cells can be helpful in improving the condition of patients with genetic disorders, such as Duchene Muscular Dystrophy. Unfortunately, most of these studies are open label studies and no double blind placebo controlled study (which is the gold standard in clinical research) has been carried out. Prof. Bhattacharya pointed out that already a few stem cell products (mostly allogeneic) have been approved and available in the market for treatment of specific diseases. It is likely that similar products for treatment of genetic disorders will be available soon. Great strides have been made in the area of embryonic and induced pluripotent stem cells. These cells have potential for regenerating damaged tissues and can be expanded for a number of therapeutic applications. Already encouraging results have been seen in a paralysed patient with nerve damage. There is the future possibility of gene-corrected stem cell banks containing all possible matched cell types to avoid graft rejection. Due to paucity of sufficient numbers of controlled clinical trials he cautioned about possible long term adverse effects of this therapy that are currently being administered, although such effects have not been reported so far.
Ms Roberta Cirisyan's talk was titled Patient Experience with Stem Cell Therapy. She is a GNE Myopathy patient who lives in Istanbul. She met Dr. Stavros Alevrogiannis in Athens and underwent stem cell transplant in Feb 2016. She also underwent a detailed metabolomic profiling of various metabolites, including organic acids, intermediates of carbohydrate metabolism, vitamins etc. Based on this she was given supplementation of vitamins/minerals. She has greatly benefited from this treatment and is now able to walk with the help of a walker, whereas before the treatment she was wheel chair-bound.

Other Patient Awareness Activities

Our GMI team along with many dedicated volunteers have been involved in increasing awareness of GNE Myopathy in the community by creating these FLYERS describing GNE Myopathy in many languages. These flyers can be downloaded from the website and are available for distribution and posting in health clinics and communities.

Patient Survey

GMI developed a short survey on various treatment options for GNE Myopathy patients. This survey was intended to collate patient driven information on therapies/treatments they are using or have used. This survey was completed by more than 50 patients. Here is a summary of the information collated from the survey.