Here we archive news stories which have appeared in the news feature on our home page.
Rare Disease Day
Learning on a walking course in California
CLINICAL PRACTICE GUIDELINES BOOKLET ISSUED
IamGSD has distributed its booklet on the Clinical Practice Guidelines for GSD 5 & 7, which were published in the Neuromuscular Disorders journal in December 2021. We included a set of our 6 leaflets and the latest Medical Overview booklet. We have so far issued the pack to over 80 clinicians, researchers and other interested parties, including everyone listed in our Directory of Clinicians.
If you know of another clinician with an interest in McArdle’s or Tarui’s, please let us know.
UPDATE ON REN001 PHASE 1B TRIAL
Reneo Pharmaceuticals update gave details on their trial in McArdle’s. This showed an adequate safety profile with no serious adverse events. After 12 weeks of treatment, participants showed an average increase of 38.5% in fat oxidation. However, the increase did not result in major changes in the distance walked during the 12-minute walk test and no corresponding changes in heart rate, fatigue or pain. Reneo does not plan to pursue a Phase 2 study, but will continue to partner with us on our advocacy and education mission.
NEW LEAFLET ANNOUNCED
“AT THE GYM”
We are working on this new leaflet for physical therapists and personal trainers who are asked to help people with McArdle’s get exercising. The leaflet avoids being daunting for a trainer who does not know our condition. It is backed by a webpage “Training support” which provides extra resources. It is in pilot, with launch expected January. DRAFT AVAILABLE NOW!
RENEO KEY OPINION LEADERS WEBINAR
Reneo Pharmaceuticals, focused on therapies for rare, genetic diseases, has announced a key opinion leader webinar on McArdle Disease and mitochondrial myopathies on Monday, October 4. This will feature Prof. Rosaline Quinlivan, M.D., from the NHNN, London, who is the clinical lead for the UK service for McArdle disease and related disorders.
AGSD US CONFERENCE
Held online due to Covid, the dates were from September 10, registrations closed September 15. For those who registered all presentations remain available until October 31. For everyone else our five presentations remain available on our YouTube channel.
INFO ON COVID-19 CORONAVIRUS
Many of us are feeling anxious as we navigate the uncertainty of COVID-19 (coronavirus). We share some information to help everyone with a muscle GSD through these difficult times.
GLOBAL WALKING WEEK 2020
The 7th annual Global Walking Week will be held Friday 16 to Saturday 22 May 2020 inclusive, encouraging us all to get moving, raise awareness and maybe even raise some funds.
IGSD2019 BRAZIL ANNOUNCED
The next major international GSD conference has been announced for Brazil in 2019. Watch out for more info.
WALKING COURSE DATES
The Walking Course in Wales this year will be held over 21 to 28 August and the Children & Parents event will be 17 to 20 August. The location will be the Brecon Beacons National Park in South Wales.
THREE NEW LEAFLETS LAUNCHED
We have launched three new leaflets in our series:
• At hospital (support for McArdle people and emergency doctors when needing to attend hospital due to an episode of rhabdomyolysis).
• At the gym (part of our Training Support package for physical therapists and personal trainers).
• At the moment (adult content for McArdle people and their partners).
CLINICAL PRACTICE GUIDELINES PUBLISHED
A huge landmark in the progress of the understanding and treatment of GSD5 & 7 has been passed. The Clinical Practice Guidelines for these conditions, prepared by an international team of 18 clinicians, researchers and patient advocates led by IamGSD, has been published in Neuromuscular Disorders, the official journal of the World Muscle Society December issue. The paper and Supplementary Material are available free under Open Access.
CLINICAL PRACTICE GUIDELINES ACCEPTED
An international team of expert clinicians and researchers, led by IamGSD President Dr. Stacey Reason, has agreed Clinical Practice Guidelines for GSD V (McArdle disease) and GSD VII (Tarui disease). These diagnostic and management recommendations have been accepted by Neuromuscular Disorders, the journal of the World Muscle Society.
GSD3 INFOGRAPHIC LAUNCHED
Recently IamGSD shared an online global survey for GSD3 on our website. The survey has been finalized and much of the results are captured in an infographic, publicly available now. Go to our GSD3a page for more details and a link to download a PDF of the survey report.
Please refer to the vaccine distribution plan for your country/local region. To the best of our knowledge, there is no reason why COVID-19 vaccines should cause any particular issue to someone with a muscle GSD. Please consult your primary physician for individual guidance.
LAUNCHES FOR RARE DISEASE DAY
We have three amazing launches for Rare Disease Day – a brand new patient registry for North America, a “Get Moving” campaign and an offer of T-shirts, sweatshirts and goodies (closes 23 March).
NEW RESOURCE ON GENE THERAPY
The American Society of Gene and Cell Therapy has launched a video of their webinar: “Gene Therapy: Yesterday, Today, and Tomorrow”. It is an interesting introduction to this important subject.
NEW COMMENTARY ON CENTRES OF EXCELLENCE
A Centre of Expertise represents the most expansive platform to provide patients with McArdle disease current best practices that encompass thorough assessments, accurate diagnostic methods, relevant information and guidance, multidisciplinary support and an ongoing interface between primary and specialist care.
“Centre of Expertise: Comprehensive Care for Patients with McArdle Disease”,
Journal Rare Disorders: Diagnosis & Therapy 2018, Vol.4 No.1:4.
GLOBAL WALKING CHALLENGE
MAY 21st to 27th
An incentive to get moving, with our 9th Global Walking Challenge. Join us in this challenge to walk the length of long distance trails around the world! You join in virtually, walking wherever you are, and sending in your mileage each day. Send us comments and photos as well! We will add the miles all together and tick off some amazing trails. The big challenge is to culminate with finishing the California Coastal Trail at 1931 km (1199 miles).
TRAINING SUPPORT PAGE LAUNCHED
Our new page for Training Support is now made public in its final draft form. The page has the new “At the gym” leaflet and other resources intended to support physical therapists and personal trainers who are assisting people with McArdle’s. Feedback is requested by January 31 in order to assist us to complete the final versions of these resources.
DR. SALMAN BHAI JOINS S.A.B.
Following the recent retirement of Dr. Ronald Haller from our Scientific Advisory Board, we are very pleased to announce the appointment of Dr. Salman Bhai to the board. You can read more about Dr. Bhai on our S.A.B. page. Our sincere thanks go to Dr. Haller for his service on the board since our inception.
JOIN THE CORDS REGISTRY
IamGSD would like everyone with a muscle GSD to join the CoRDS Registry which has a special section for us (those in Europe can use the Euromac Registry). Please read about CoRDS, listen to the podcast and then join the registry on-line.
PODCAST ABOUT CoRDS REGISTRY
CoRDS launch a 28 minute podcast with Stacey and Andrew, talking about muscle GSD and the CoRDS Registry. Listen, and then join the registry, to help everyone but especially those yet to be diagnosed.
WALKING COURSE DATES FOR 2020
Walking courses are planned for Wales (AGSD-UK) – 6-13 August, Germany (SHG) – 18-22 September, and provisionally USA (IamGSD) – adjacent to the AGSD US conference 11-12 September.
WALKING WEEK 2019
The 6th annual walking week will be held Monday 20 to Sunday 26 May 2019, encouraging us all to get moving, raise awareness and maybe even raise some funds.
RESEARCH RESULTS AWAITED
During 2018 we are expecting the results of three trials to be published - the ketogenic trial in Germany, the Triheptanoin trial in Denmark and France, and the Sodium Valproate trial in Denmark and the UK.