Tag Archive for: UTSW

Chelsea’s Hope Advisory Board Meets to Discuss Research Goals

Chelsea’s Hope Advisory Board Meets to Discuss Research Goals

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

  1. Get the ION283 safety study fully funded
  2. Assist with the analysis and publication of collected data in order to drive biomarker development for Lafora disease and determine global prevalence rates
  3. 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). 

ION238 Safety Study Update February 2025

Safety Study Update – February 2025

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We are excited to share an update about the ION283 Safety Study: the team at UTSW can continue enrolling patients. 

In December 2024, the first patient in the Lafora Disease Safety Study at the University of Texas Southwestern Medical Center (USTW) received their first dose of ION283, a treatment designed to halt disease progression. Last month, that patient completed their one-month check-up with no safety issues detected. This allowed a second patient to receive their first dose of ION283 in January. Earlier in February, the second patient completed their one-month safety check. The safety board at the university reviewed the safety data, giving an all clear to proceed as planned with the study.

The first ten families who applied to participate in the study will receive notification from the team at UTSW when there is enough money available to enroll them in the study. We are pleased to share that the third patient is en route to Dallas, and the fourth has been notified.

As a community, we must continue raising funds so all 10 patients can receive treatment. The data collected from this study will help accelerate the approval process so that we can expand access for other patients to receive this drug. However, we need to complete the enrollment for this study first and get the data we need. So far, we have raised more than $977,000 as a community. We must reach 1.5 million dollars by May 2025 to fully fund the study. 

We will continue to keep the Lafora community informed about the progression of the Safety Study. Any questions not answered in our FAQs about the study can be directed to Chelsea’s Hope at info@chelseashope.org.

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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
ION283 Safety Study Approval ASO Therapy for Lafora Disease

ION283 Safety Study Approved

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We just learned from Dr. Minassian that the FDA has approved the ION283 Safety Study!

We are so grateful for your continuous support, for Dr. Minassian and his team at UTSW, Dr. Messahel, IONIS, and everyone involved for getting us here.

Our patient community has been a driving force in supporting reaching this stage and we can celebrate another step forward today. We hope this will lead to treatments for our children.

Berge A. Minassian, M.D

“30 years in the making, we now have FDA approval to start our ION283 clinical trial.

I would like to thank each of your associations for your support over the years…” – Dr. Berge Minassian

We do not yet have the application site on clinicaltrials.gov or the criteria for inclusion in the Safety Study. Those will be coming in a few weeks. In the meantime, we can continue fundraising and ensuring all patient families learn of this opportunity.

Budget

The estimated cost of the Safety Study is $1.5 million USD. Please remember, donations do not guarantee a spot for your loved one in the trial. We encourage donations through a patient organization. Chelsea’s Hope has an online fundraiser where you can donate and we will transfer the money to UTSW.

France Lafora is also fundraising HERE.

Donate today!


Please help us share this information! 

If you did not get an email update from us earlier, please ensure you are signed up for our mailing list. Once we learn the criteria from Dr. Minassian, we will send out the information to everyone who has signed up for “research updates.” You can contact christine@chelseashope.org to confirm your email preferences with the subject “Check my Chelsea’s Hope Email Preferences.”

Questions? Please check out our FAQs section on our webpage. 

We answer commonly asked questions about the safety study, including what it is, how much it costs, who can participate, and more! If you don’t see an answer to your question, please email katherine@chelseashope.org with the subject “Safety Study Question.”