News - Chelsea's Hope Lafora Children Research Fund

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.

Open Letter to Noventia

July 3, 2025/by Chelsea's Hope

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:

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

Download the open letter to Noventia

A graphic with nine headshots introducing new team members; text says: Meet the team sophie stein research support intern jeremiah paul fundraising support intern samy sharif science communications intern sara gerber research support intern sally leung research support intern jhanavi kotian science communications intern kait fedor development fellow vaishali jain fundraising support intern anna gould science communications intern

New Team Members Join Chelsea’s Hope for the Summer

June 24, 2025/by Chelsea's Hope

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

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

Sally 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 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 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 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 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 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 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.

18 June 2025 wednesday Register online to attend the Zoom meeting. ION283: what's next? Q&A Submit your questions beforehand.

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

June 10, 2025/by Chelsea's Hope

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.

REGISTER NOW

Chelsea’s Hope Advisory Board Meets to Discuss Research Goals

May 19, 2025/by Chelsea's Hope

The Chelsea’s Hope Advisory Board met in April to provide guidance and support for the organization’s clinical and research goals in 2025:

Get the ION283 safety study fully funded
Assist with the analysis and publication of collected data in order to drive biomarker development for Lafora disease and determine global prevalence rates
Establish Clinical Centers of Excellence and/or Guidelines for Clinicians

The primary topics of discussion were preparing for ION283 clinical trials, validating biomarkers for Lafora disease progression, and developing guidelines for seizure management for Lafora patients.

ION283 Safety Study

The ION283 Safety Study now has six patients enrolled. Dr. Berge Minassian, who directs the study at the University of Texas Southwestern Medical Center, assured the board that patients will be enrolled as soon as funds are available. Also, Noventia is continuing its preparations to launch a clinical trial for ION283 in Europe. The timeline and details of this trial are still under discussion. Members of the Advisory Board will make themselves available to Noventia when requested to provide expertise and insight to ensure the best care for Lafora patients.

Four patients wait to join the ION283 Safety Study.

Biomarker Research Goals

Before any potential Lafora therapy can begin clinical trials to establish efficacy, biomarkers for Lafora disease progression must be identified and validated. Chelsea’s Hope and the broader Lafora community have assisted with global efforts to collect patient samples for biomarker analysis. The data from the two-year Natural History Study sponsored by Ionis is now ready for analysis. Members of the Advisory Board have committed to participate in working groups over the summer to review the data and recommend promising biomarkers.

Centers of Excellence

While our organization continues to support the development of therapies, there are steps that we can take now to improve the quality of patient care worldwide. This year, Chelsea’s Hope will sponsor a series of discussion panels to establish Centers of Excellence for Lafora Disease and guidelines for patient care. The Advisory Board recommended that the organization prioritize the development of guidelines for seizure management in Lafora disease. Dr. Roberto Michelucci will direct this effort with support from Chelsea’s Hope as well as a cohort of clinicians who treat Lafora patients.

Questions?

For more information about the Chelsea’s Hope Advisory Board,the projects, or the research goals outlined in this news post, please contact our Scientific and Executive Director, Dr. Kit Donohue (katherine@chelseashope.org).

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