What an amazing start we have had to 2023!  I have just returned from attending WORLD (We’re Organizing Research into Lysosomal Diseases) Symposium in Orlando Florida.  There were 3,000 attendees, and fellow Board member Laurel Gregier and I were able to make many new contacts in the rare disease world, strengthen old acquaintances, and learn many things about the accelerated research happening into Lysosomal Diseases (LDs).  See below for Laurel’s account of her experience of WORLD.  I will talk about mine here.

Catching up with Jenny Klein, Operations and Program Management at Odylia Therapeutics, MLlll patient, former ISMRD Board member and current ISMRD Scientific Advisory Board member.  I also spent quality time with Jenny’s mother, Terri Klein, President and CEO National MPS Society, but was too busy talking to get a photo! ☹

WORLD was a whirlwind five days of presentations, posters, satellite symposia, mentoring and social events.  It would have been impossible to cover everything that was happening.  I made the gruelling 24-hour, 3-flight trip home to Australia with a severe head and chest cold, from which I am still recovering.  So my apologies for not being in touch earlier.

I also lost my phone on the second last day in Orlando, and it took over a week to get my new phone re-stocked.  All very time-consuming, and my phone still has some important gaps in it.


With Dr Marc Patterson, Professor of Neurology, Pediatrics and Medical Genetics at the Mayo Clinic and ISMRD Scientific Advisory Board member, with his poster on Arimoclomol and Niemann-Pick disease.


On 16 February, Chiesi Pharmaceuticals announced that the US Federal Drug Authority (FDA) had approved the use of it’s Enzyme Replacement Therapy Lamzede for Alpha-Mannosidosis (AM) in the US.  This is very exciting news for our AM families in the US.  Lamzede will be available for use by AM patients in the US of any age, and for those who have had a Bone Marrow Transplant (BMT).  Click here and here for more information about Lamzede.  Click here if you are an American patient or family seeking to enroll for Lamzede.

Laurel and I were thrilled to meet Head of Global Rare Diseases, Giacomo Chiesi, as well as several other important players in the Chiesi organization.
 



With Stuart Siedman, Chiesi Global Head, Patient Advocacy - Rare Disease

 

I had an amazing meeting with JCR Pharmaceuticals and Medipal Holdings, the two Japanese companies who are together developing an ERT for Fucosidosis.  Medipal CEO Mr. Shuichi Watanabe came all the way from Japan to Florida with several colleagues to meet JCR representatives and I, and to have a video conference with Fucosidosis families from around the world.  Thank you so much to Watanabe-san and to the Fucosidosis families who took part. 


With Medipal Holdings President and CEO Mr Shuichi Watanabe and JCR Vice President Clinical Development, Global Business Strategy and Business Development, Dr Mathias Schmidt
 


JCR Pharmaceuticals presented two Fucosidosis posters at WORLD:
 
Other posters of interest included:

- a study which concluded that the growth of LD patients undergoing ERT would benefit from Vitamin D.  This is important information for anyone whose child is undergoing ERT;
- a study that concluded that home infusions of ERT were safe for people with LDs;
- a study into infusions of Lamzede for AM which concluded that home infusions had slightly higher compliance than hospital infusions.  This is very reassuring for families, as home infusions generally create lower burden for caregivers and patients, reducing travel time and costs, appointment scheduling and lost work/school days.

I made many other connections and have several new avenues to pursue for our families.  WORLDSymposium was an amazing conference to attend.

Warm regards
Carolyn Paisley-Dew
ISMRD President


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  Dear ISMRD Community

I am both grateful and honored to have been a part of 2023 WORLDSymposium. This was my first time attending a major medical convention, and I hoped to share a few highlights with you.

First, it was lovely to meet our ISMRD President, Carolyn Paisley-Dew, in person for the first time! Carolyn did an amazing job networking with pharmaceutical companies, researchers, and advocacy groups. She facilitated a virtual forum for Medipal Holdings, JCR Pharmaceuticals, and Fucosidosis families to meet, share their stories, and discuss the exciting development of a new drug candidate, JR-471, a blood-brain barrier (BBB)-penetrating α-L-fucosidase, for the treatment of patients with Fucosidosis. I was so impressed by the keen vision, professionalism, and dedication of Medipal and JCR in organizing this exciting research on lysosomal disease!

Chiesi Pharmaceuticals welcomed Carolyn and I to multiple events throughout the week. I found Chiesi Global Rare Disease to be more of a family than a company. Their personal, person-first approach to medicine is commendable. We celebrate Chiesi launching the first and only FDA-approved enzyme replacement therapy for the treatment of non-central nervous system manifestation of Alpha-Mannosidosis, Lamzede, and we look forward to a continued collaboration with Chiesi, building a bridge between our glycoprotein community and this visionary company. 

I also had the opportunity to meet Dr. Virginia Kimonis and Dr. Angela Martin Rios from the University of California-Irvine Division of Genetics and Genomic Medicine, who are in the early stages of new Beta-Mannosidosis research.

I was pleased to see that a wide range of diseases, even those ultra orphan diseases like Beta-Mannosidosis were represented this year. I am so grateful to those doctors, researchers, pharmaceutical companies, and patient advocacy groups dedicated to changing the outlook for rare disease. My ultimate takeaway from WorldSymposium is this: Together, we can save lives.

Best wishes
Laurel Gregier
ISMRD Board Member