October 13, 2015 - aTyr Pharma announces clinical trial in LGMD2B patients
Today, aTyr Pharma announced that it will be expanding its Resolaris™ clinical program to LGMD2B patients. This international Phase 1b/2 clinical trial is a dose escalation study designed to test safety, tolerability, immunogenicity and activity of Resolaris™ in adult patients with LGMD2B.
Want to learn more about LGMD and meet other patients? Attend the LGMD Seminar on 8/29/2015 at the Hershey Lodge! Email firstname.lastname@example.org or call 717-540-4316 to RSVP.
March 31, 2015 - LGMD Consortium partners with Genzyme
We announced today that the free LGMD-diagnosis.org genetic sequencing program has been expanded thanks to a charitable contribution by Genzyme, a Sanofi company. Launched in September 2014, the program was developed by a consortium of seven LGMD foundations to offer free genetic diagnoses to patients with limb-girdle muscle weakness. Currently only patients in the US are eligible to apply but we hope to expand internationally eventually.
The MDA also recently launched a diagnosis program that uses the same platform we developed at Emory Genetics Laboratory. Patients should apply either for our program at LGMD-diagnosis.org OR for the MDA program because it is the same test. The differences between the two are that the program at LGMD-diagnosis.org is completely free to use without using your health insurance and anyone can apply regardless of whether they are associated with an MDA clinic.
November 19, 2014 - LGMD-diagnosis.org expands to give physicians easy access
We have implemented an additional feature in lgmd-diagnosis.org - a physician portal that neurologists and other clinicians can use to apply for sequencing patients they suspect have LGMD. It can be accessed at http://www.lgmd-diagnosis.org/physician-portal The patient portal, which patients can use to apply for sequencing for themselves, remains as before.
October 1, 2014 - Brad Williams discussed patient advocacy at the Speak Foundation Conference
Brad Williams of the Jain Foundation recently spoke about patient advocacy for diagnosis, treatments and cures at the Speak Foundation Conference, an annual conference where patients and caregivers discuss the challenges of living with muscular dystrophy. Watch the full video here https://www.youtube.com/watch?v=zU7q3lqBLqw
September 30, 2014 - Consortium of LGMD Family Foundations offers free genetic testing
We are excited to announce the release of a new diagnostic program. Please help make this new initiative a success by sharing this information with your physicians and anyone you know with unexplained muscle weakness! We have joined together with several other LGMD family foundations to create a new website lgmd-diagnosis.org where undiagnosed individuals with a muscle problem can take a quiz to see if they qualify for free genetic sequencing, sponsored by our consortium of foundations. Currently, only US residents are eligible for free sequencing but if the program is successful, we plan to expand internationally. Click here to read the full press release.
September 18, 2014 - Jain Foundation Expands ALDA Access to more Physicians
The Jain Foundation has partnered with Genzyme to translate ALDA (Automated LGMD Diagnostic Assistant) into 5 additional languages. We hope that these additional languages will allow more physicians worldwide to use the tool to help diagnose their patients.
September 15, 2014 - Jain Foundation announces start of high throughput screening for FDA approved drugs
The Jain Foundation is moving forward with two studies to evaluate whether any drugs currently on the available in the United States can be repurposed for use to treat muscular dystrophies caused by the absence of functional dysferlin. This step comes after about 2 years of work developing special tests with contract research organization, Evotec. If any FDA approved drugs are identified in the studies, they will be confirmed and tested in mouse models of LGMD2B/Miyoshi myopathy as a precursor to clinical trials.
July 25, 2014 - Patient article published in Quest MDA Magazine
We would like to congratulate Chris Anselmo who wrote a fantastic article, titled "Accentuate the Positive" and written from the patient's persepective, about how to deal with a late-onset muscle disease diagnosis for Quest Magazine. Read the full article by following the link below.
July 16, 2014 - Patient participation helps one of our researchers win grant money
We are proud to announce that thanks to the overwhelming participation of the dysferlinopathy community, one of our researchers (03MV) has won funding from Knudra to continue his research on LGMD2B. Before we asked patients to vote for his project on Facebook, he was in 10th place. Patient votes moved the researcher from 10th place to 1st place in under a week and by the time the voting ended, our researcher had over 1000 votes. The more we show the world that dysferlinopathy (LGMD2B/Miyoshi) patients and their supporters are plugged in and active, the more we are going to be able to get things accomplished in the clinics. Well done! Click here for more details on the contest.
April 28, 2014 - Exciting opportunity for ANO5 / LGMD2L affected individuals!
Muscle imaging, either in the form of muscle MRI, muscle ultrasound, or Cardiac (heart) MRI is an exciting area of clinical research -- not only for the purpose of diagnosis but also for use as an indicator of disease progression over time. Though muscle MRI has been studied, to date, no one has described and documented a significant number of muscle ultrasounds or cardiac MRIs in patients with ANO5 gene mutations (also known as LGMD2L). Researchers are interested in muscle ultrasounds because they are a painless, bedside procedure that can be used to better understand the characteristics of muscle tissue. They are interested in cardiac MRIs because there has been some suggestion that patients with ANO5 gene mutations (LGMD2L) may actually have a dilated cardiomyopathy that should be monitored and potentially treated with preventative care.
At the world-renowned National Institutes of Health (NIH) in Washington DC, near the capital of the United States of America, they are offering free cardiac and muscle MRI and muscle ultrasound imaging in order to characterize what muscle looks in neuromuscular disorders.
The incentives for ANO5 (LGMD2L) individuals to take advantage of this opportunity are great, and include:
1. Reimbursement of all expenses to travel to the NIH (the visit will span over 1-2 days)
2. Assessment of cardiac function and recommendations based on that - in addition to baseline testing of lung function, skeletal muscle imaging (ultrasound and MRI), and an exam be Dr. Naz Dastgir, a neuromuscular specialist.
April 2, 2014 - Clinical Outcome Study Exceeds Recruitment Goals
We are delighted to announce that 193 patients have been recruited into the Clinical Outcome Study for Dysferlinopathy (COS), exceeding the original goal of 150 patients. Professor Kate Bushby, MD, at Newcastle University and Laura Rufibach, PhD, at the Jain Foundation are co-leading this multi-year study, running in 14 centers worldwide. The study is projected to cost over $3M and is funded entirely by the Jain Foundation.
"The recruitment of this large number of people affected by such a rare disease is a real indication of the dedication of the study teams and the enthusiasm of the patients to participate in research," said Professor Bushby.Dr. Plavi Mittal, President and CEO of the Jain Foundation, confirmed this saying, "Because we are testing as much as possible in this study, we are asking a lot from everyone, especially the patients. I am continually impressed by the commitment of the patients and staff at all of our 14 COS centers." The study centers are located in the United Kingdom, United States, Japan, Australia, Germany, France, Spain, and Italy.
March 10, 2014 - Jain Foundation funded researcher featured in local newspaper
In a recent article in the Lubbock Avalanche Journal featured R. Bryan Sutton, PhD, an expert in protein structure whose Jain Foundation funded project will define the structure of dysferlin. To read more about Dr. Sutton's work, see his project summary on our website.
March 3, 2014 - NIH Muscular dystrophy biomarker clinical study now recruiting patients
Scientists at the NIH are looking for patients who are able to walk and have a limb girdle muscular dystrophy, Miyoshi Myopathy, or Becker muscular dystrophy to participate in a clinical study to find biomarkers of these diseases. Biomarkers may be used in the future to help in diagnosis, in following disease progression and to assess the effectiveness of possible treatments. Without finding such biomarkers, it will be harder to evaluate how effective a treatment is, once one becomes available.
February 25, 2014 - New Rare Disease Organization focuses on India
A new Organization for Rare Diseases in India (ORDI) focused on empowering patients with rare diseases recently formed and had a press release mentioning theJain Foundation Inc..They could be a valuable resource to patients, including those with LGMD2B/Miyoshi, in India. If you would like to learn more about them, visit their website.http://www.ordindia.org/#. If you have further interest, they also have a facebook page: https://www.facebook.com/ordindia
February 4, 2014 - US patients granted direct access to lab and clinical results
FINALLY, PATIENTS GET MORE CONTROL! A new ruling from the US Department of Health and Human Services gives patients access to their lab and clinical results without having to go through their doctor (http://www.hhs.gov/news/press/2014pres/02/20140203a.html). The rule modifies both the Health Insurance Portability and Accountability Act (HIPAA) and the Clinical Laboratory Improvement Amendments (CLIA) to give patients more control over their health. You can read more about the ruling in the Wall Street Journal and USA Today.
It makes sense that we should have access to this kind of information about our own lab results. The more we know and understand about our bodies, the better equipped we will be to make the right decisions about our health. If we don’t care for ourselves, who will?
From the Jain Foundation’s perspective, this new rule could speed up the diagnostic process and allow us to gain valuable information about LGMD2B/Miyoshi (Dysferlinopathy) by removing the physician bottleneck. Much time is wastedwaiting for the doctor’s office to provide us with the relevant medical records. When the individual patient has access to their own information, they will control of how fast the process goes, not the doctor.
We encourage you to take advantage of this new rule and contact the relevant laboratories TODAY to get a copy of all of your past test results. Keep them in your safe or filing cabinet, because there is no telling when you will need them.
February 3, 2014 - Conference summary from the 2013 Dysferlin Conference published
A summary of the proceedings of the 2013 Dysferlin Conference in Arlington, Virginia, USA on April 3-6, 2013 was published in Neuromuscular Disorders. Click here to learn more about the science presented at the conference.
January 28, 2014 - Jain Foundation meets with other LGMD Family Foundations
Yesterday, the Jain Foundation met with several other LGMD Family Foundations to discuss potential opportunities for collaboration. Stay tuned in the next few months for some exciting new initiatives.
December 4, 2013 - Jain Foundation Partners with CDI to Create iPSC Lines from LGMD2B Patients
The Jain Foundation announced today that they have signed an agreement with Cellular Dynamics to generate five inducible pluripotent stem cell lines (iPSC) from patients with LGMD2B/Miyoshi myopathy. Muscle cells derived from these iPSC lines can be used to study dysferlin deficiency in patients and the creation of these cells is an important step in developing a therapy for the disease.
All five donors have been recruited for the study.
November 19, 2013 - New Online Tool Accelerates Diagnosis of Muscular Dystrophies
The Jain Foundation and LGMD2I Research Fund announce the release of ALDA (Automated LGMD Diagnostic Assistant), their updated and expanded Limb-Girdle Muscular Dystrophy (LGMD) subtyping tool. ALDA uses a state-of-the-art algorithm developed by the Jain Foundation to help physicians determine a patient's LGMD subtype based on clinical and laboratory findings. ALDA's predictions and recommendations for genetic testing help physicians arrive at genetically-confirmed diagnoses in a fraction of the usual time.
October 16, 2013 - Collaboration with PROOF/MRM to Identify Blood-Based Biomarkers
The Jain Foundation is initiating a clinical study to identify markers in the blood of patients that differ with progression of LGMD2B/Miyoshi muscular dystrophy. We are excited to work with MRM Proteomics and PROOF Centre because of their excellent track record of discovering molecular biomarkers in blood and developing them into tests that aid in diagnosis and treatment of other diseases like heart transplant rejection.
As is necessary for clinical studies, the first several months of the project will be spent obtaining ethical approvals from government agencies, followed by recruitment of elidgible participants. Eligibility will be similar to that necessary for participating in our Clinical Outcome Study.
September 23, 2013 - Over 100 patients recruited into the International Clinical Outcome Study
We are happy to announce that we have recruited over 100 patients into the International Clinical Outcome Study for Dysferlinopathy and are optimistic that we will reach our goal of 150 patients by the end of the recruitment phase in December. We want to thank all those individuals currently enrolled for their willingness to participate in this critical study and would encourage anyone else suffering from a dysferlinopathy and living in a country with a study center (US, United Kingdom, France, Spain, Germany, Italy, Japan, and Australia) to consider participating. The outcome measures identified in this study are necessary for the development and success of future clinical trials. The information gained in this study will provide a better understanding of the disease, ensure optimal care and treatment, and will lead to new and better therapies.
September 16, 2013 - Calos receives grant to develop stem cell based therapy for LGMD2B
The Jain Foundation would like to congratulate Dr. Michele Calos from Stanford University for receiving a $1.9 million grant from the California Institute for Regenerative Medicine to develop a stem cell based therapy for LGMD2B. Because this three-year grant is an “Early Translational Award,” it will help Dr. Calos to prepare for clinical work in the future if the results from the initial study are promising.
August 31, 2013 - 15th anniversary of the discovery that dysferlin is linked to LGMD2B
We have just marked a major milestone: the 15th anniversary of the discovery that linked dysferlin to LGMD2B and Miyoshi myopathy. This article describes the 15 year journey required just to link dysferlin to muscular dystrophy. In the last 15 years we have done so much more! We have created a research community dedicated specifically to dysferlin which generates new discoveries every year that will help lead us to a treatment. We have also helped hundreds of individuals get genetically diagnosed. We are now on the verge of testing possible treatments in the clinic. As we continue to work together, imagine what we can accomplish in the next 15 years!
August 23, 2013 - Jain Foundation collaboration with Evotec makes international news
The Jain Foundation effort to develop a cure for LGMD2B made international news this week when the Jain Foundation and Evotec, a German contract research organization, announced that an agreement to continue to collaborate had been signed. The Jain Foundation funds a project with Evotec to develop methods that may potentially evaluate hundreds of thousands of drugs that might one day become treatments for LGMD2B.
September 14, 2012 - International Dysferlinopathy Clinical Outcome Study now recruiting patients
The Jain Foundation would like to announce that recruitment for the Dysferlinopathy Clinical Outcome study officially started Sept 1, 2012 and will go through August 31, 2013. Currently only the sites in Newcastle, United Kingdom and Munich Germany are active, but all the other sites in the US, Europe, Japan, and Australia should be active in the next few months. While the study is not testing a treatment the results of this study are critical to the success of future treatment trials.
We would encourage all individuals who are genetically confirmed with a dysferlinopathy (LGMD2B/Miyoshi) to consider participating. If you are unsure about whether you have been genetically confirmed or have questions about the clinical outcome study, please contact us at email@example.com.
We hope to recruit at least 150 participants worldwide. Since all forms of dysferlinopathy (LGMD2B/Miyoshi) are rare, EVERY SINGLE PERSON COUNTS!!!