Open Letter to Noventia

Dear Noventia Pharma Team,

We are families affected by Lafora disease who are holding on to hope through your work. Your dedication to developing a treatment for Lafora means everything to us. We were excited when you shared the news of the ION283 license purchase and your intentions to create a clinical trial last year, but we are anxiously awaiting more details. We know that any future progress with ION283 will come from your company, so we kindly request a public update on what is next for the drug’s development after the safety study at UTSW.

As you know, the current ION283 safety study includes only 10 children. While we are grateful this study is happening, many more families were heartbroken to learn our children could not participate. These families are now left waiting, watching their children’s condition progress, and praying for the next opportunity. We are counting on Noventia to help make that opportunity possible.

For many of us, your work is the only hope we have left. Our children do not have time to wait. Lafora disease is aggressive and unforgiving—we are pleading for a chance to save our children’s lives. We desperately urge Noventia to share your plans and move forward quickly with a clinical trial or expanded access program so more children can receive this potentially life-saving treatment. You have our full support in this mission, and we are willing to assist however we can.

We would greatly appreciate it if you could share any updates with us or join our community for a Q&A. Some of our questions include:

  • How soon would expanded access be available for those not included in the trial?
  • What will be the initial phase of the clinical trial conducted by Noventia?
  • Which international sites will be involved?
  • Are those sites accredited to conduct a clinical trial?We look forward to your prompt response and a clear outline of Noventia’s intentions regarding ION283. We are grateful for everything you do for the rare disease community and remain hopeful that Noventia will act swiftly to help more families in this fight against Lafora disease.

With hope,

The Lafora patient community

Patient organizations:

 
Asociacion CEL LUZ logo
Chelsea's Hope Lafora Children Research Fund

Lafora warriors and their families:

Hanifa Ishaque

Maggie Blatz

Anthony Caycho

Durmisevic Amar

Camila Bicca Oliveira

Caroline Bicca Oliveira

Prakash

Dr. Sagheer Hanif

Zarana Rathod

Tammie

Gonzalo Bruquetas

أم حسین الطباطبائي

Samy Sharif

Gladi Gidanian

Bilal Bhat

Bies Mahabier

Jamie Hennon

Marianne Rodriquez

Marina Weiss & Gajic Family

Georgianna

Spiros Georgakis

Paola Pacca

Romina Varesi

Silvana Parlato

Sami Memon

Marija Mrvosevic

Colleen Baumgartner-Hirsh

Simona Fochetti

Joan Monda

Babeth Letort

Jenifer Merriam

Recai yıldız

Marija Novakovic

Veronique Gadomski

Pierre Gadomski

Nuray yıldız

Fatos Malaj

Maha Hashim Alansari

Carmine Lettieri

Moniqueca Barfield

Jette Daubjerg

Elpida Georgaki

Nadira Belalouache

Fasal Alansari

Nora Belalouache

Hodosy Karol & Hodosy Viola Sheila Barter

Cheryl Bentley

Nicoletta Berti

Jette Daubjerg

Vanessa Lucas

Christophe Lucas

Kim Rice MD

Jim Rice MD

Tanja Weber

Antonello Giorgino

Daryoosh Moghaddam

Muhammad Malik

Mara Gerloni

Pasquale Esposito

Andi Müller

Anantha & Gopalakrishnan T

Korina Georgaki

 

New Team Members Join Chelsea’s Hope for the Summer

We are thrilled to introduce nine new team members who will be joining us this summer. Chelsea’s Hope was amazed when we had more than 500 applications for our 2025 internship program. As the organization seeks to expand its capabilities to achieve our mission, we have brought on as many team members as possible to work on a variety of projects and provide community assistance. This work is possible thanks to the Chan Zuckerberg Initiative and individual sponsors. 

Research Support Interns

Sophie Stein Sophie Stein is a rising senior at Cornell University pursuing a degree in Human Development. She has a special interest in medical research.

Sara GerberSara Gerber is a genetic counseling graduate student at Stanford University. She is passionate about rare disease research and advocacy, bioethics, and public health. 

Sally LeungSally Leung graduated from UC Irvine with a B.A. in Public Health Policy. She is excited to start a Master’s in Public Health program and is interested in exploring how healthcare inequities affect chronic and infectious diseases in medically underserved communities

Fundraising Support Interns

Jeremiah PaulJeremiah Paul is a rising senior at the University of Miami, studying Business and Computer Science. Diagnosed with a chronic illness at a young age, he understands the challenges faced by the Lafora community and wants to use his skills to support our cause.

Vaishali JainVaishali Jain is a rising junior at UC San Diego majoring in Molecular and Cellular Biology and Global Health. She is passionate about health equity, community outreach, and advocacy.

Science Communications Interns

Samy SharifSamy Sharif is starting medical school in the fall and is eager to help with Lafora advocacy efforts. He wants to make a lasting impact by creating accessible resources and sharing powerful stories. 

Jhanavi KotianJhanavi Kotian is a senior at San Jose State University, majoring in Biological Sciences. She is eager to bridge the gap between families and the scientific community through effective, compassionate communication.

Anna GouldAnna Gould is a rare disease advocate who graduated from Washington University with a degree in Biology in 2024. She shares about her journey with Marfan Syndrome on her blog and is eager to bring her skills to help the Lafora community.

Organization Development Fellow

Kait FedorKait Fedor has a passion for nonprofit development and a drive to raise funds and support for the Lafora disease community. She earned her MS in Nonprofit Management and Philanthropy from Bay Path University in 2024. 

New Team Members Committed to the Mission

Our expanded team remains committed to improving the lives of those affected by Lafora disease and helping accelerate the development of treatments. Please make everyone feel welcome as they assist with projects this summer, and don’t hesitate to contact us if you have any questions.

 

Mathilde Daubjerg

Mathilde smiling

Denmark

Meet Mathilde, who, at the age of 21, has been battling Lafora disease for half of her life.

Mathilde as a toddlerA Happy Childhood

Mathilde was a perfectly healthy and happy little girl, well-liked by everyone she met, and skilled academically. Outside of school, Mathilde was a Girl Scout. She loved animals, creative hobbies like drawing and painting, reading horror books, and watching Disney movies with her sisters.

Mathilde would help her neighbor by mowing their grass; she babysat children some afternoons. Her dream job, though, was to work in healthcare. She imagined a future living in a small yellow house with her own family. Mathide even daydreamed about her future children’s names: Agnes and Isaac.

No one ever imagines they will be diagnosed with a rare disease. Even as Mathilde’s first symptoms began, everyone thought she had epilepsy…

Mathilde’s First Symptoms

When Mathilde was around eight, she began having seizure activity. She dropped in her school yard and was unresponsive for more than an hour, but didn’t experience any jerking or cramping. The doctors recommended she have an EEG, the results of “which unfortunately disappeared in the system.” Life carried on for her.

Mathilde at ScoutsAlmost a year later, while participating in the Scouts program she loved, Mathilde had another episode where she was also uncontactable for over an hour. This time, she experienced muscle jerks in her right arm. She had another EEG, which showed epileptic activity around the same time as the results of the first one appeared.

Now in the third grade, Mathilde began to struggle with keeping up with school; she “suddenly had a hard time reading and spelling, which she had always been really good at.” Between her cognitive challenges, trouble controlling her body, and side effects of her medication, it became clear there was something more going on. Mathilde school portrait

She was admitted to the Epilepsy Hospital Filadelfia many times. Starting with GTK around age 10, Mathilde trialed many different medications and received different epilepsy diagnoses.

Lafora

In 2018, she began experiencing tics, muscle jerks, and dropping things. No medication helped her manage her body; her symptoms progressed. Once coordinated and active in Scouts, Mathilde was falling and experiencing undefined seizures frequently. Her whole body would twist, and she would hear her family, but she would be unable to answer them.

Mathilde age 21

Mathilde recently celebrated her 21st birthday.

The cycle of hospital visits and medications continued until Mathilde had a biopsy in 2020. As if March 2020 was not difficult enough, she was finally diagnosed with progressive myoclonus epilepsy. Her family learned their beloved Mathilde was fighting Lafora Body Disease and has been engaged with the community since.

While Mathilde’s age made her ineligible for the ION283 Safety Study, her loved ones remain hopeful that treatments will help her soon. She recently celebrated her 21st birthday on June 10.

Thank you to Mathilde’s mother, Jette, for sharing her daughter’s story with us.

Announcing June 18th ION283 Q&A: What’s Next?

Questions about the ION283 Safety Study or what’s next?  We hope you will join us for a Zoom ION283 Q&A next Wednesday, June 18th, at 4 p.m. ET.

Please register in advance to attend the meeting.

While we have our FAQs, a lot has changed over the past year. We are so thankful that members of the UTSW team will join us at the Q&A to share what they know. Please submit questions through this form by Monday, June 16th, for Dr. Minassian and Dr. Messahel to review them before the meeting.

Chart showing 6/10 patients enrolled in the ION283 safety study and 7/10 patients funded

Six patients have been enrolled in the ION283 Safety Study. We have funded the seventh participant and need to raise more for the final three children to join.

We will use Zoom’s closed caption translation feature. Please do not hesitate to join us in the ION283 Q&A or submit a question for us to ask if your first language is not English.