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Rare Disease Day Around the Globe, Rare Patients Thoughts, Blog and Video, Summary of Stem Cell Webinar, Patients' Survey Results, NIH Website on GNE Myopathy, and Newsletters

                                     WITH RESEARCH, POSSIBILITIES ARE LIMITLESS
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February 28 is the tenth annual Rare Disease Day which is observed all over the globe, and on this day we the GNE Myopathy (GNEM) patients express our hope for a cure. 
This year I invited GNE Myopathy patients to send me their insights, ponderings,contemplations, or any other thoughts they would like to describe about their experience of living with this rare disease.  GNE Myopathy does not discriminate against color, ethnicities, or race. This disease, in fact, is found around the globe.  Here is what some GNEM patients would like to share with the Rare Disease community:  

"Living with GNEM made me anything that I never imagined myself to be.  Quite positively, I would not have found my endurance, will power, patience within myself, and the tolerance to bear rudeness and harsh attitudes around me without this rare companion called GNE Myopathy.  Spiritually, I am stronger than anyone living without this disease, and surely towards a profound eternal me.  I will never quit fighting and will prove that I am just 'differently-abled' - NOT disabled.  By S.- Pakistan

Here is an exquisite blog written by another GNEM patient, J.Y. - U.S.A. Her GNEM experience explores and sheds light about the human, psychological, and emotional sufferings that we go through daily.  Here in her own words:  "We are living in dark times. The ugliest underbelly of humanity is being exposed.  The most vulnerable among us, including people with disabilities feel threatened and live with increased fear for our futures".For more on her exceptional insights please visithttp://livingwithhibm.com/?p=281

As I mentioned earlier. GNE Myopathy patients are found around the globe.  Here is a video of a Taiwanese patient Joy, was diagnosed in her mid-twenties and went on to raise a family and have a successful career.  For the past three decades, her life got more physically challenging; however, Joy hopes that an effective treatment will be available to all patients in the near future. 
Note:  This video was prepared and narrated in Mandarin  fifteen years ago by a local Taiwanese television station.
Rare Disease Day Editorial and Links:
As another Rare Disease Day is observed, or another Patient Day, I continue to maintain a secure intention that a cure will be available for GNEM. When will the key to this intention happen?   Research is strewn with side roads and alley ways, crossroads and junctions, and it may take multiple decades to develop cures for rare disease patients. How many more falls will we take? How long do we push ourselves to maintain our independence? When or on which date  will we find out we cannot lift our feet over the threshold of our front door? When, indeed when, will we be able to continue to hold a spoon to feed ourselves like "normal" people do or will this ability be taken away as well?  My hope is that innovative technology will  intercede and collaborate with research to hasten a cure for GNE Myopathy. 

 For Rare Disease Day Observed Around The Globe.

Here is a detailed summary of the Stem Cells Webinar. Again, this is  another of one of the  gne-myopathy.org events that were attended by over 45 persons.

Third Patient Webinar organized by GNE Myopathy International (GMI) and World Without GNE Myopathy (WWGM) on Jan 28, 2017
Title: Stem Cell Therapy for GNE Myopathy
Speakers:       Dr. Todd Malan- Clinical aspects of Stem Cell Therapy
                        Centre for Regenerative Cell Medicine, Arizona, USA
                        Prof. Alok Bhattacharya- Stem Cells- Myths and Reality
                        Jawaharlal Nehru University, New Delhi, India
                        Ms R. C.- Experience with Stem Cell Therapy
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 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 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 R. C. 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 metabolic 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.   

Here is part of a Patient Survey that we conducted in November 2016.   I want to thank all the GNEM patients from our community who responded to our Patient Surviey and offered us a new insight into our rare disease. Due to the large size of this file a more detailed and complete survey will be posted soon on this website.

Patient Survey on Various GNE Myopathy Treatments

GNE Myopathy International and World Without GNE Myopathy (India) conducted a patient survey on treatments for GNE Myopathy. The survey was conducted in November 2016 and received 50 responses from GNE Myopathy patients. The survey was aimed at  collecting patients’ views on the effectiveness of  various treatments based on patients’ own experiences. 
The survey is only an informal assessment of patients’ views and should not be taken as an authoritative guidance on any treatment. Patients’ views presented in the survey are subjective and anecdotal and therefore could be misguided due to many factors. 
Patients surveyed seem to benefit the most from physiotherapy and pool exercises. Yoga, supervised exercises, meditation, massage, cardiovascular exercise are also very beneficial, although used by fewer patients. Sialic Acid, ManNAc, protein supplement, CoQ10, vitamin supplements were of medium benefit. Stem cell, homeopathy, and Ayurveda could be explored in the future as they showed high benefit but the number of users among surveyed patients was extremely low, making the data less reliable. We need more objective measurements of treatment outcomes by medical experts to have confidence in the relative merit of each treatment.
For further questions or if you would like a copy of the complete survey, please contact us at gne.myopathy@gmail.com or wwgm.india@gmail.com.

News from the National Institutes of Health

The National Institutes of Health (NIH), Bethedsa, Maryland, U.S.A., lists important information on GNE Myopathy.  The clinical trial on ManNAc, and other resources, relevant research, and a multi-center trial which is planned for this summer using ManNAc.  I am very excited about this trial as more patients will be able to participate. Kudos to this exceptional team at the NIH.  For more, visit:  https://www.genome.gov/27567243/gne-myopathy-clinical-studies-at-nih/

Here is a link for an abstract where thirty five patients were tested on three Patient Reported Outcomes (PRO). These tests were conducted on GNEM patents participating in the Natural History study at the NIH.   The areas tested  were the physical function, the Human Activity Profile, and the Inclusion Body Myositis Functional Rating Scale.

Recent Related GNEM Newsletters: 

Link for the Winter Edition of the Neuromuscular Disease Foundation 
Link for the Treat NMD Network

Please remember to help other patients to register at  GNEM DMP site


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