News & Blog

In Memory of Dr. Joan Guinovart

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Headshot of Dr. Joan J. GuinovartWe are deeply saddened by the loss on January 1st, 2025, of Professor Dr. Joan Guinovart — founder, former director, former researcher, and professor of IRB Barcelona, an international research center devoted to curing cancer and other diseases linked to aging. He was a brilliant scientist and a wonderful human being. Dr. Guinovart’s research was primarily concerned with glycogen, starting with a study of the effects of insulin on glycogen synthase and eventually leading to the study of Lafora disease, a debilitating disease characterized by the accumulation of abnormal glycogen. His research was instrumental in identifying a therapeutic target to treat patients with Lafora disease.

The team at Chelsea’s Hope is extremely thankful for Dr. Guinovart’s research and the milestones he created to get us to treatments. He will be missed by many in our Lafora community. We are sending our condolences to his family and friends.

Jenifer smiling behind an AES sign

Chelsea’s Hope Attended the 2024 Annual Meeting of the American Epilepsy Society

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Jenifer smiling behind an AES signVice President Jenifer Merriam represented Chelsea’s Hope at two back-to-back conferences. From conversations with other leaders about improving organizational structure, to learning about the resources and knowledge available for the rare epilepsy community, it was a powerful event.

2024 Partners Against Mortality in Epilepsy (PAME) Conference

The first day of the PAME conference, Jenifer joined other families affected by epilepsy and advocates in programming focused on navigating grief. While it was heavy, Jenifer came away with new connections and ideas about how Chelsea’s Hope can better support bereaved Lafora families.

The second day of PAME was scientific conference sessions.

We extend our heartfelt thanks to the Danny Did Foundation, who supported Jenifer’s travel to the PAME conference. Danny Did works to raise awareness and support families affected by Sudden Unexpected Death in Epilepsy (SUDEP), in honor of Danny Stanton They also provide grants for seizure devices. 

“The most impactful part of attending was connecting with other rare epilepsy advocates and stakeholders to advance Chelsea’s Hope’s goals.”

Michaelle Jinnettee and Jenifer Merriam smiling in front of Rare Epilepsies Network banners

Michaelle Jinnettee with Cure KCNH1 Foundation and Jenifer Merriam at the Rare Epilepsy Network booth at the 2024 AES Annual Meeting.

2024 Annual Meeting of the American Epilepsy Society (AES)

Jenifer was a voice for the Lafora disease community at AES while engaging with pharmaceutical representatives, clinicians, and umbrella epilepsy advocacy organizations. She also attended the Rare Epilepsy Network luncheon which provided opportunities to network with other leaders in the rare epilepsy space.

“I saw a video of a patient who went from using a wheelchair to walking independently after receiving ASO treatments in an n-of-1 trial. It made me feel hopeful that we are now treating Lafora patients with our own ASO therapy.

AES provided an opportunity to network with others in the epilepsy space and gather cutting-edge information about treatments, research, and best practices in the epilepsy community. I am so grateful that I attended.”

Dr. Antonio Delgado-Escueta Won the AES’s 2024 Founders Award

Selfie of Jenifer Merriam and Dr. Antonio Delgado-Escueta

We want to celebrate Dr. Delgado-Escueta for this prestigious award! We are very thankful he is a member of the Chelsea’s Hope Advisory Board and for all his important collaborative work to find a cure for Lafora disease.

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Text says 'ION283 Safety Study ASO Therapy for Lafora Disease' over a background image of the Dallas, Texas, skyline

Now Recruiting: ION283 Safety Study

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The application packet for the ION283 safety study is now available!

You can view the application as a PDF or download a Word document.

Please read the email below from Dr. Minassian:


“Dear Lafora disease patients and families,

We are now ready to receive referrals for consideration for inclusion into the clinical trial: Safety and Efficacy of Intrathecally Administered ION283 in Patients with Lafora Disease

This email relates to the prescreening phase.  Below are the requirements for the prescreening.  If a patient passes the prescreening, they will be placed on a list of prospective patients to participate in the trial.  Each patient invited to participate will still need to meet broader inclusion-exclusion criteria at the time of screening in Dallas.  These final inclusion-exclusion criteria are listed in the above website.

Only referrals from neurologists will be accepted, except where it is impossible for the patient to have a neurologist (we are thinking of the patient in Gaza), in which case another doctor or local medic can make the referral.

Attached is a document that contains a prescreening table and the Lafora Disease Performance Scale, both of which should be completed by the referring neurologist.  All parts of the document must be completed.  All documents and video mentioned in the prescreening table must be provided at the time of referral precisely as described.

Referrals must be sent by the neurologist from his or her email address to LDrecruiting@utsouthwestern.edu as a single email containing all the attachments.  Please note that our email system cannot accept files that are larger than 50 Mb total.  Therefore, make the video short and of low quality.  Just enough to show the patient walking ten steps independently.

The list of prospective participants will be generated on a first-come first-served basis, where first-come means that all the above requirements are included in the referral.  Any referral that has any component missing will not be accepted and will be returned.

The study will only include 10 participants.  Therefore, the first 10 on the first-come list will be invited to Dallas for formal screening toward potentially entering the study.  If any patient among the first 10 fails to meet inclusion-exclusion criteria at the time of final screening in Dallas, then this will open a slot for a subsequent patient on the list.

The upper age limit is 18.  We understand this to mean any patient before their 19th birthday at the time of final screening in Dallas.  In case among the first 10 patients passing prescreening there is a patient whose turn in the list means they will age out of their 19th birthday at the time of the final screen in Dallas, such a patient may be moved up the list as long as this does not affect the age-criterion admissibility of the remaining patients.

Thank you for considering participation in this clinical trial.

Berge A. Minassian, MD
Principal Investigator
University of Texas Southwestern”

Our deepest gratitude goes to Dr. Minassian, Dr. Joshi, Dr. Verma, Dr. Messahel, and the entire team at UTSW for making this possible. We are also thankful for Ionis’ drug donation and our community’s collective fundraising efforts. We can’t stop now!

Please help us share this information, and good luck to everyone applying.

View PDF Application Download Application as a Word Document
Five members of the Chelsea's Hope Board of Directors smiling and standing together.

Apply to Join the Board of Directors!

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Apply to join our Board of Directors for the 2025-2026 term!

Five members of the Chelsea's Hope Board of Directors smiling and standing together.

Chelsea’s Hope Board members at Symposium 2024.

The Board of Directors includes 5-9 individuals who meet monthly to review, plan, and distribute resources to further the organization’s mission. The mission of Chelsea’s Hope is to improve the lives of those affected by Lafora disease and help accelerate the development of treatments. The organization’s leadership team is fully remote, with some conference travel. Members of the Board of Directors may serve up to two consecutive terms in their respective positions. Each term is two years long and starts in January on odd-numbered years (i.e. the next term begins January 2025).

Members of the Board of Directors are expected to:

  • Attend the monthly board meetings (of which four are mandatory)
  • Serve on at least one committee for the organization
  • Be willing to assist with special events at the organization, including but not limited to our Annual Symposium, Family Q&A Sessions, conference presentations, and fundraising events.

The Board of Directors comprises a President, Vice President, Secretary, Treasurer, and up to five At-Large Members. At-Large Members must fulfill the requirements described above.

Finally, you can find more details about the responsibilities and duties of the Board of Directors HERE.

Application requirements

Apply to join the Board by Friday, November 29th. The organization will contact applicants in December with more information. Please fill out our Google Form and include your CV or resumé.

Are you interested?

Yes, I’m interested!