The end of the year is approaching and that is a great time for reflection. At PLN Foundation, we look back again on a year in which we made breakthroughs and created a lot of attention for the PLN mutation. We do this through actions, our supporters and in the world of science. Will you read along with our retrospective?
If we are proud of anything, it is the mountains of work we have done as a team. We are currently professionalizing at a rapid pace because current developments demand efficiency from us. When there is too much work on our plate, we ask ourselves: which work brings us closest to our goal? Our main goal is to find a safe and affordable treatment for the PLN mutation.
We are also raising awareness about PLN so that people who are carriers of the mutation do not walk around with a disease that can manifest itself suddenly. In this way, we hope to get a treatment to carriers in time so that together we can eliminate PLN from the world. Besides finding a treatment and raising awareness, we find it very important to bring fellow sufferers together online and offline. This was also successful this year!
This is what we did in 2024
- We organized no less than 3 information afternoons this year! We settled in Zuidbroek (Groningen), Rotterdam (South Holland) and Haarlem (North Holland). The meetings were very well attended. We are happy to see that awareness of PLN is increasing, so that people can find the right guidance/help in time for their complaints. At the locations for the information afternoons, the Schoorl sisters were also present with the blood bus.
Every information afternoon has a live stream. This was the video of the information afternoon in Haarlem.
- Each information afternoon had its own live stream. This also allows people to join the afternoon remotely. They can ask their questions online, which are then answered in the room by our speakers. In addition to the live stream of the information afternoon in Haarlem, you can also watch all the individual presentations in this playlist.
- The live stream in Rotterdam, as well as all individual presentations can be viewed online. The same goes for the information afternoon in Zuidbroek, where both the live stream and the individual presentations are online.
- Which brings us directly to a first: we went heartily viral on YouTube in the summer of 2024 with one of our videos of a lab visit to Stanford University! This video was viewed more than 45,000 times, giving us another big boost to our fame. Would you like to subscribe to our YouTube channel? We post new videos regularly!
- In addition to our viral outing, a Youth Day was also organized for the first time thanks to Roxanne van Loenen and Joost Westerhof! We are enormously grateful to them for their enthusiasm, commitment and fighting spirit. Read a detailed report about the Youth Day back on our website.
- You were not sitting still, as more than 20,000 euros were raised for the PLN Foundation through our action website! This funds much needed scientific research. All our donations go 100% to this research, so nothing is left on the line. Thank you all!
Some of the actions launched through our action website this year. Wow!
- Also in the spotlight was singer-songwriter Nienke Leone with her song “Crying in the Cinema. She wrote this song especially for a childhood friend who lost her father to the PLN mutation. All proceeds from the song were donated by Nienke to the PLN Foundation. Watch the beautiful music video she made:
- We have launched, rolled out and completed an awful lot of projects. Actually, our article is too short for this, but an important project that should not be missed in this list is the Socie app. This is our own app where we bring peers together. There are already almost 100 members in the app! Would you also like to become a member? Then send an email to communicatie@plnheart.org. You will then be added manually. We are working hard to automate these processes.
- We also enjoyed quite a bit of media attention, as we appeared in the Noord Hollands Dagblad, NPO Radio 1, Het Financieel Dagblad and Libelle Magazine, among others. For an overview of our media publications, please find a dedicated page here.
Very special projects are coming up for 2025 to give PLN awareness another big boost. We can already give you a sneak peek: carrier portraits are on the way and our own PLN Podcast is being prepared for publication behind the scenes. Stay tuned via our social accounts, YouTube channel or our newsletter.
This is what science did in 2024
Our scientific team had its hands full with all the ongoing projects and insights that came out of them. Therefore, a great time to take a look at what has been happening.
Annet Linders (Senior Scientist):
How do you look back on the year 2024?
“For me personally, 2024 was an eventful year. In addition to a number of personal developments(PhD defense, buying my first house and moving), I also learned a lot at the foundation. Together with one of our advisors and Marise, I have created more structure within the foundation. This gives us a solid base to build on towards the future.
We have also started our own therapeutic program, which will have a practical start early next year. We have also hired a technician, who is creating a biobank of cells that the foundation has commissioned. This will also give us a chance to test ideas that come to us more quickly. I see in the previous report that we had hoped to treat the first patients with a new therapy. Unfortunately that didn’t work out, but that certainly doesn’t mean we are giving up!
Also, our team has been reinforced by Corné van Dam for 4 hours a week, who helps us to “translate” scientific articles into understandable language. Some of his articles can already be read on the site. In summary, I think that this year we have laid an important, solid foundation to build on in the years to come. Unfortunately, this year was also the last CURE-PLaN meeting. Of course, that one was very interesting and the researchers who were part of this group are all eager to continue PLN research.”
What were 3 key scientific insights?
- 1. There is strong evidence that the negative effect of the PLN-R14del protein in the heart muscle cell does not arise from its effect on calcium metabolism. Instead, scientists have shown that the clumps of PLN-R14del generated in the cells are more problematic. It should be reported, however, that this is still not definitive evidence, only indications.
- 2. A proteomics study (experiments where they look at the presence of all proteins in the cell) has shown that in PLN-R14del cells, errors also arise in the metabolism of the cell and in cell-cell contacts.
- 3. Cells have a recycling mechanism, which causes old or damaged components to be cleaned up (autophagy, auto=self, phagy=eat). A recent study shows that this process is also disrupted in cells carrying the PLN-R14del gene. This process is also related to the formation of the clumps of point 1., but exactly how they are connected remains to be figured out (do the clumps arise because the cell no longer recycles, or do the clumps arise so quickly that they get in the way of recycling?).
What are your expectations of 2025?
“I expect we will be following up in some capacity with the CURE-PLaN community. As I also touched on above, we can also expect data from our own therapy capability by the end of next year.”
Luuk Kerckhaert (Clinical Scientist):
How do you look back on the year 2024?
“2024 was an important year for PLN Foundation, in which great progress was made on several fronts. One of the most notable developments was the rapidly growing attention PLN is receiving from the pharmaceutical industry. AksBio opened a phase 1 clinical trial specifically for PLN patients in the U.S. and will start a European phase 2 clinical trial next year, also with PLN patients.
Avidity Biosciences and Tenaya Therapeutics are developing new and specific PLN therapies and at least three other medium to very large pharma companies are actively working on treatments for PLN. This growing interest shows that PLN is recognized worldwide as an important condition where breakthrough treatments are possible.
In addition, in 2024, the Foundation itself made great strides toward achieving its mission: to make affordable treatment available to patients. Through its biotech company PLaN Therapeutics, two drug development projects specifically for PLN have begun, with a third pathway possibly on the way.
With this progress, 2024 has been a year in which, for the first time, there is concrete sight of an experimental drug trial for PLN patients and tremendous growth in the pharma companies working on PLN.”
What were 3 key scientific insights?
- 1. Review of the disease mechanism: Research by UMC Groningen and the University of Wisconsin-Madison has shown that heart muscle disease PLN arises not only from calcium deficiencies, but also or mainly from accumulation of misfolded PLN proteins, which cause heart cell damage. Implications: This insight offers opportunities for new therapies that focus on preventing protein accumulation, which could potentially slow or stop the disease.
- 2. Pig model shows disease signs: For the first time, there is evidence that a pig model in which the PLN mutation is incorporated shows signs of the disease. This important result was achieved by an international team of researchers from Germany (Munich), Denmark (Aarhus) and the Netherlands (Leiden and Maastricht). Pig heart function is very similar to that of humans, making this model valuable for studying the disease and testing therapies. Implications: The model makes it possible to more accurately investigate the efficacy and safety of new treatments, which is an important step in developing effective therapies for patients.
- 3. Promising results with new gene therapy: Very interesting results have been achieved with a new gene therapy for PLN. When tested on animal models, this therapy appears to help effectively against the disease. This treatment is being further developed by PLaN Therapeutics, the biotech company owned by the PLN Foundation, in collaboration with researchers from several universities. Implications: This breakthrough offers hope for an innovative and targeted treatment that could slow or even stop PLN heart muscle disease in the future.
What are your expectations of 2025?
“In 2025, our focus is on accelerating drug development projects through PLaN Therapeutics and strengthening our collaborations with pharma companies. These partnerships are critical to bringing treatments to patients faster. We are building on the growing interest from the pharmaceutical community and working more intensively together to bring our mission closer: affordable treatment for PLN.”
Corné van Dam (Scientific Writer):
How do you look back on the year 2024?
“Good! CURE-PLaN has ended, but has given us a lot. A lot of new collaborations. Last year we also really broadened as a foundation. In addition to stimulating research, the clinical side, the path to develop a drug and the side of communication with the patient are becoming more and more important.”
What were 3 key scientific insights?
- 1. The pig models are really up and running: we can start investigating the symptoms of PLN-R14del in pigs and start treatments.
- 2. More and more companies are interested in PLN-R14del and are developing a therapy.
- 3. I-1c positively affects PLN-R14del in cells and mice.
What are your expectations of 2025?
Slowly the focus is shifting from research to understand PLN to more clinical research about patients and drugs and how we get drugs into patients. It is an exciting and beautiful development!
What will science do in 2025?
As our scientists wrote, the focus of research is changing. Whereas in recent years our focus has been on understanding the disease, we are now moving toward the clinical phase. That means research is focusing more on what treatments might work and what their effects are.
Of course, research is still underway to better understand PLN disease, but important steps are being taken toward safe and affordable treatment. In 2025, we will publish a comprehensive article on what research projects are planned for the year.
Our colleagues have another message for you
In the past year, we were allowed to strengthen our team with several toppers. For example, Corné van Dam joined us as a scientific writer. He had been involved with the foundation for years as an intern and volunteer. Thanks to his efforts, we can translate scientific insights into understandable language.
We were also pleased to welcome Irene Marco as a technician. She works closely with Annet Linders (Senior Scientist) and Renee Maas (biomedical researcher) in the laboratory. This keeps a great momentum in PLN research. We are very happy with this.
As the last reinforcement of the year, Sien Morisse joined us in November. She is our secretary and makes sure that all projects run through the office as well. With this, she is a point of contact for many and creates the overview we desperately need with all the ongoing issues.
In addition to strengthening our team with these professionals, two colleagues left. We thank Marise and Tess for their tremendous commitment and passion for their work. Both of you have made an indispensable contribution to where we are today.
We are super grateful to be able to work together on such an important issue. That’s why our colleagues each have another message for you, to thank you and give you heart.
Luuk Kerckhaert (Clinical Scientist):
“In 2024, we have made great strides: pharma companies are showing serious interest, and through PLaN Therapeutics we are working on two promising therapies. Thanks to your support, we are closer than ever. Together we continue to build a future with hope for all PLN patients!”
Annet Linders (Senior Scientist):
“We are seeing a huge increase in interest in the disease from companies as well. And the more people are interested, the faster we can arrive at a treatment! I have already heard 1 optimistic prediction: within 2 years. Well I don’t know how realistic that is, but animosity is definitely there!”
Sien Morisse (Secretary):
“In my short time working within the PLN Foundation, I have noticed that I have joined a very driven team. A team that is working passionately to find a treatment method for the PLN mutation. Needless to say, I am grateful to be part of this inspiring group of people and look forward to continuing to work together on this wonderful mission.”
Corné van Dam (Scientific Writer):
“In addition to a healthy heart, you need a heart full of love for a happy life. And for a heart full of love you need a Source of love, that Source is God!”
Nikki Pommer (communications consultant):
“We look back on another successful year with many breakthroughs, in all sorts of areas. You really notice that we are growing very fast and that is positive, but of course it also comes with challenges. So keep supporting us so that we can continue to help you. Support is expressed through financial support, but we are also greatly helped by contributing to research or becoming a volunteer. As Pieter (chairman) always puts it beautifully: help us to help you. Keep it up, because together we see the finish line in sight. Thank you for everything.”
MARGREET AND MARIANNE SCHOORL (BLOOD BUS COORDINATORS):
“About 200 PLN carriers have now donated blood (THANK YOU for that!) and we hope to increase the number significantly by 2025! Would you also like to donate blood? Sign up with us! The next opportunity will be on January 25, 2025 in Sneek. In the last days of this December month, we wish our PLN supporters bright spots, strength and courage! Let this be the beginning for a positive 2025!”
Thank you for a wonderful year
Important Announcements:
- During the holiday season, our office will be closed. Therefore, we will have limited accessibility between Friday, December 20 and Monday, January 3. We will also not be posting any new messages on social media during this period. Our emails get limited reads. After that, we will be ready to talk to you again and work on safe treatment for PLN.
- Keep an eye on our calendar for new information afternoons. You can sign up for these in advance. We look forward to seeing and welcoming you.
- As of Friday, January 31, 2025, the peers community on Facebook will be removed. In 2024, we switched to the platform Socie. This will give us our own app that allows fellow sufferers to communicate online. We will inform our supporters of this in more detail.
We want to thank you tremendously for a wonderful 2024. Please continue to support us in 2025, help us raise awareness of PLN, and commit to a world without PLN. Here’s to a positive, powerful and prosperous new year!