I want to extend my sincere appreciation to my readers, family, and friends from around the globe for reading and following my blog. I am truly fortunate thank you. I am still persevering on the path to stay physically independent, though I have stumbled a few times, have gotten back up, have dusted myself off, and remain ready to heal myself from gne-myopathy.
Many developments in regards to research, clinical trials, and registration of patients have taken place in 2014, and more of these will continue on in 2015. Our disease is getting more and more attention, and I believe that we are on the cusp of hopeful outcomes. As patients however, we need to actively participate in trials, registries, and natural history studies as the researchers need patients for data, and to test new therapies.. We can make change whether it is collaborating on funding or finding a cure; each one of us need to participate. Remember, we are rare, not many of us are "walking" around therefore, the registries, researchers, and doctors need our participation.
Earlier this year, along with some patients, family members, and I have set up a website. Our aim is to generate awareness of gne-myopathy by reaching out to patients, family, and doctors worldwide, especially to patients in under-served communities. Please visit our website, it is near completion, and send me any suggestions on how we may help patients/communities around the globe. Here is the link: http://gne-myopathy.org/index.html
Some Upcoming Events in 2015
1. In January there will be a conference in the Great Neck area of New York State. I urge patients living in this area to attend. Check out this link as it lists the agenda, the presenters, and contact information.
http://www.ndf-hibm.org/index.php/component/content/article?layout=edit&id=14
2. In February 2015 there is a week set aside for people with rare diseases. The rare disease community will be having workshops and presentations all over the United States. In particular, there will a symposium in San Diego on February, 27-28 which is mainly dedicated to present research and discussion about gne-myopathy. The researchers plan to meet with patients afterwards. I am very interested and will be attending. Please register for both days especially the "Doctor-is-in". Here is the link. http://www.sanfordburnham.org/research/programs/genetics/symposium/Pages/2015.aspx
Data from Ultragenyx:
Ultragenyx, the biopharma company that is conducting the extended phase 2 trial on sialic acid, presented their findings in October, 2014 at the World Muscle Society(WMS) conference in Berlin. Their findings are as follow:
The report was based on 49 out of 59 patients who were taking 12 grams of sialic acid tablets. No "clinically meaningful advantage" were noticed between the patients on the the 12 grams regimen compared to the 6 grams. The 12 grams/day data do not suggest any clinically meaningful advantage over 6 grams/day. The study has been underway for two years now, and the data indicated that progression of the upper body muscles had slowed down compared to the 24-week group that had used the placebo.
Ultragenyx met with the FDA on starting a possible "Pivotal (phase 3) study. This most likely will be randomized, along with a placebo regimen and will last for about 48 weeks. The FDA agreed to their submitted study design which will include tests on the upper extremity muscle strength, and supported with reported data from patients functional activity scale (GNEM-FAS). This proposed trial of phase 3 is planned for the middle of 2015.
Here is the link with the specific findings.**
http://files.shareholder.com/downloads/AMDA-2CDCD3/3721047003x0x799012/A6145A12-06BC-4540-8639-9B86953A2A14/Ultragenyx_-_Oppenheimer_Presentation_12_10_14.pdf
**Please scroll down once on the link to find the gne-myopathy findings.
National Institutes of Health in Bethedsa Maryland.
The National Institutes are still planning to conduct phase 1b of the ManNac clinical trial, which will hopefully start early 2015. The patients who have waited for this trial will hopefully get their wishes answered in the near future. The Natural history study is still recruiting. Here is the link.
https://clinicaltrials.gov/ct2/show/NCT01417533?term=hibm&rank=8
There is a registry website for patients with gne-myopathy. It is important for patients to visit this site to register. This will assist the researchers in discovering patterns in the onset, and progression of gne-myopathy. The site is user friendly and the questions are easy to answer.
http://gnem-dmp.com/
Thank you, everyone for your support, and I wish you a more healthy, peaceful, and joyful 2015. May we experience love and healing.
Many developments in regards to research, clinical trials, and registration of patients have taken place in 2014, and more of these will continue on in 2015. Our disease is getting more and more attention, and I believe that we are on the cusp of hopeful outcomes. As patients however, we need to actively participate in trials, registries, and natural history studies as the researchers need patients for data, and to test new therapies.. We can make change whether it is collaborating on funding or finding a cure; each one of us need to participate. Remember, we are rare, not many of us are "walking" around therefore, the registries, researchers, and doctors need our participation.
Earlier this year, along with some patients, family members, and I have set up a website. Our aim is to generate awareness of gne-myopathy by reaching out to patients, family, and doctors worldwide, especially to patients in under-served communities. Please visit our website, it is near completion, and send me any suggestions on how we may help patients/communities around the globe. Here is the link: http://gne-myopathy.org/index.html
Some Upcoming Events in 2015
1. In January there will be a conference in the Great Neck area of New York State. I urge patients living in this area to attend. Check out this link as it lists the agenda, the presenters, and contact information.
http://www.ndf-hibm.org/index.php/component/content/article?layout=edit&id=14
2. In February 2015 there is a week set aside for people with rare diseases. The rare disease community will be having workshops and presentations all over the United States. In particular, there will a symposium in San Diego on February, 27-28 which is mainly dedicated to present research and discussion about gne-myopathy. The researchers plan to meet with patients afterwards. I am very interested and will be attending. Please register for both days especially the "Doctor-is-in". Here is the link. http://www.sanfordburnham.org/research/programs/genetics/symposium/Pages/2015.aspx
Data from Ultragenyx:
Ultragenyx, the biopharma company that is conducting the extended phase 2 trial on sialic acid, presented their findings in October, 2014 at the World Muscle Society(WMS) conference in Berlin. Their findings are as follow:
The report was based on 49 out of 59 patients who were taking 12 grams of sialic acid tablets. No "clinically meaningful advantage" were noticed between the patients on the the 12 grams regimen compared to the 6 grams. The 12 grams/day data do not suggest any clinically meaningful advantage over 6 grams/day. The study has been underway for two years now, and the data indicated that progression of the upper body muscles had slowed down compared to the 24-week group that had used the placebo.
Ultragenyx met with the FDA on starting a possible "Pivotal (phase 3) study. This most likely will be randomized, along with a placebo regimen and will last for about 48 weeks. The FDA agreed to their submitted study design which will include tests on the upper extremity muscle strength, and supported with reported data from patients functional activity scale (GNEM-FAS). This proposed trial of phase 3 is planned for the middle of 2015.
Here is the link with the specific findings.**
http://files.shareholder.com/downloads/AMDA-2CDCD3/3721047003x0x799012/A6145A12-06BC-4540-8639-9B86953A2A14/Ultragenyx_-_Oppenheimer_Presentation_12_10_14.pdf
**Please scroll down once on the link to find the gne-myopathy findings.
National Institutes of Health in Bethedsa Maryland.
The National Institutes are still planning to conduct phase 1b of the ManNac clinical trial, which will hopefully start early 2015. The patients who have waited for this trial will hopefully get their wishes answered in the near future. The Natural history study is still recruiting. Here is the link.
https://clinicaltrials.gov/ct2/show/NCT01417533?term=hibm&rank=8
There is a registry website for patients with gne-myopathy. It is important for patients to visit this site to register. This will assist the researchers in discovering patterns in the onset, and progression of gne-myopathy. The site is user friendly and the questions are easy to answer.
http://gnem-dmp.com/
Thank you, everyone for your support, and I wish you a more healthy, peaceful, and joyful 2015. May we experience love and healing.
