News & Blog

Lafora Disease Centers of Excellence Listening Sessions

Invitation to Join Listening Sessions

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Families and caregivers, you might have seen in our July newsletter that we need your help to establish criteria for Centers of Excellence for treating Lafora disease.

As an ultra-rare disease, most hospitals do not know what resources are needed in order to provide the best possible care for our children with Lafora. By establishing guidelines for Centers of Excellence, we can provide a set of recommendations for treating Lafora patients and recognize hospitals that provide exemplary care for our children with Lafora.

We invite you to join us at one of the listening sessions in August to share your advice on what support you receive (or need) from your care facility. There are currently four sessions scheduled; please sign up for the session with the time and language that works best for you.

Listening Sessions

August 1: English (but all languages welcome)
Join Jenifer at 10 AM Pacific Daylight Time. >

August 8: Hindi/English
Join Vaishali at 7:30 PM India Standard Time. >

August 15: Spanish
Join Nancy at 10 AM Eastern Daylight Time. >

August 25: Italian
Join Giuseppe at 7 PM Central European Summer Time. >

Together, we can advocate for better care. By recognizing locations with expertise, we can learn from their practices and improve worldwide treatment options for Lafora patients.

Noventia Pharma logo

Noventia’s Reply to Lafora Patient Community

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Noventia replied to the open letter from the Lafora patient community that they were in the final stages of formalizing an agreement with Fondazione Telethon for the clinical development of ION283. Here are their answers to some of our questions:

“• Clinical Trial Phase: We are preparing to submit an application for a Phase 1 clinical study to the regulatory authorities by the end of this year. This study will primarily focus on safety, but will also include preliminary efficacy endpoints, and is expected to enroll 20 patients.

• Trial Sites: The coordinating center identified for the study is the IRCCS Institute of Neurological Sciences in Bologna, Italy, a center of excellence in this field. Should there be any delays in certification, we have contingency plans to involve one or more additional European centers to avoid unnecessary delays.

Regarding your question on site accreditation, in Italy, Phase 1 clinical centers must be certified under the specific AIFA regulation 809/2015. Our selected center in Bologna is in the process of obtaining this certification, which we anticipate will be finalized by the time of the study submission. For any potential international sites, while this Italian regulation does not apply, we will ensure they meet comparable high-quality standards. The thorough evaluation and selection of all clinical sites will be conducted as soon as the final protocol is ready.

• Transparency and Communication: We are committed to keeping the patient community updated. Once the clinical protocol is finalized, we will organize a dedicated meeting with patient representatives and associations to share all relevant details and answer your questions. Up to now, the Italian patient associations AILA and Tempo Zero have been regularly consulted and kept aligned through periodic meetings and updates. We will continue this approach, ensuring that all families remain informed as we move forward.”

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

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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

 

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

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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.