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ION283 Safety Study

Keep reading for the latest news about the ION283 Safety Study and FAQs. We will continue to update our patient community as new information becomes available. 

This is an exciting step forward! It will ensure a brighter future for the entire Lafora community.

Timeline of Events

The FDA approved the ION283 Safety Study in August!

During the 2024 Lafora Disease Science Symposium, the team at University of Texas Southwestern (UTSW) received the official National Clinical Trial number from the FDA for the ION283 Safety Study: NCT06609889. Families and clinicians can now find official information about the eligibility criteria and the study protocol on clinicaltrials.gov. The essential eligibility criteria are:

1) Patients must be between 10-18 years of age at the time of enrollment (meaning they are at least 10 years old and have not yet turned 19 years old)

2) Patients must have a genetically confirmed diagnosis showing a mutation in either EPM2A or EPM2B/NHLRC1

3) Patients must be able to walk independently (meaning they can walk 10 steps without assistance)

The additional update we have is that Ionis announced on September 4, 2024, that they reached an agreement to license ION283 to Noventia Pharmaceuticals. Read Ionis’s statement to the Lafora community HERE.

The licensing of ION283 will not impact Dr. Minassian’s Safety Study at UT Southwestern. That will continue as planned, and we will update our community as soon as enrollment is open on clinicaltrials.gov.

On October 14, Dr. Souad Messahel kindly joined us for a Q&A. The meeting recording and transcript are available upon request. Requests can be emailed to info@chelseashope.org. View her slides HERE.

The application opened on November 17th. 

Frequently Asked Questions about the ION283 Safety Study

Please feel free to send us any inquiries you have about the study if your question isn’t answered by our FAQs below.

Yes! It began on November 17, 2024. Learn more and apply here: https://chelseashope.org/now-recruiting-ion283-safety-study/.

“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”

IONIS logoThis will be a 2-year study to assess the safety and effectiveness of ASO genetic therapy in Lafora disease. Other forms of ASO therapy have been successful in treating other genetic diseases; hence Ionis Pharmaceuticals has developed a new ASO drug called ION283 for treatment of Lafora disease. ION283 has been shown to prevent Lafora Body accumulation in preliminary studies of Lafora disease animal models.

Berge A. Minassian, M.DDr. Berge Minassian is the Chief of Child Neurology at UT Southwestern Medical Center. He has been active in neurogenetics throughout his entire career and is a dedicated clinician treating Lafora disease patients. He announced that on April 11th, at the April 2024 Research Roundtable, his team submitted an Investigational New Drug application to the FDA for a safety study of ION283 ASO therapy.

He shared on August 14th that the FDA approved the ION283 Safety Study.

The inclusion/exclusion criteria are available on clinicaltrials.gov.

The essential eligibility criteria are:
1) Patients must be between 10-18 years of age at the time of enrollment (meaning they are at least 10 years old and have not yet turned 19 years old)
2) Patients must have a genetically confirmed diagnosis showing a mutation in either EPM2A or EPM2B/NHLRC1
3) Patients must be able to walk independently (meaning they can walk 10 steps without assistance)

Patients will need to be recommended by their neurologists in order to participate in this study.

Blue text says 'UT Southwestern' above gray text that says 'Medical Center' The safety study will be held at UT Southwestern Medical Center in Dallas, Texas, and participants will have to be present in Dallas for treatment and assessment for about five days every three months. Participants would be responsible for covering travel costs, including travelers’ health insurance and accommodation; however, both Chelsea’s Hope will work to locate resources for families who need financial support to cover travel costs. UT Southwestern has a lot of experience with international patients and has previously partnered with Ronald McDonald House, which provides accommodation and meals for patients and their families. 

The study will last for 2 years. Once the study receives approval, patients will be enrolled on a rolling basis, one per month, as the funds are available.

The plan is that a total of 10 patients will be enrolled in the safety study. The FDA will require a preliminary evaluation after the first two patients are enrolled in the study. If those evaluations show good safety and tolerance of the drug in the first two patents, then the remaining 8 patients can be enrolled.

The estimate is 1.5 million USD for running the 2-year study; however, this number could change! While Ionis is providing the drug free of charge, this is the budget required to cover the clinical costs associated with the study.

That depends on a number of factors. After the FDA approves the protocol, the investigators at UTSW can submit amendments to expand the study. These amendments could include expanding the age range and the number of patients in the safety study. These amendments will depend on the safety data collected from the initial patients enrolled in the study. It will also depend on how much ION283 drug is available. Enough drug for 10 patients is guaranteed, however, additional drug for more patients would need to be negotiated with the pharmaceutical company.

Blue text says 'UT Southwestern' above gray text that says 'Medical Center'

Chelsea’s Hope created a fundraising page in anticipation of the Safety Study. Lafora France also has a dedicated fundraising page.

You can make tax-deductible donations in your preferred country. Our organizations will then donate to the UTSW foundation once we have confirmation that the study is active.

You will also be able to donate through a foundation at UT Southwestern to support running the study. Chelsea’s Hope will send out details when the site for receiving funds is launched. If you haven’t already, sign up for emails from Chelsea’s Hope.

Sign up for our mailing list!

No. To keep the process fair, you cannot essentially pay to have your child join the study. Donations to the fund will have no impact on who is selected to participate in the trial! 

The information about the safety study will be found on clinicaltrials.gov soon, and will have the inclusion/exclusion criteria, protocol, and contact information.  Chelsea’s Hope will assist with fundraising for the study, and we will send out details when the site for receiving funds is launched at UT Southwestern. We will continue to communicate any information we learn with you, so please make sure you’ve signed up for our mailing list and indicated your email preferences.

Sign up for our mailing list!

Connect with Chelsea’s Hope for updates on the study, and help us spread the word!

It is a step forward towards developing a potential treatment for Lafora disease. Noventia Pharma will assume full responsibility for developing and evaluating the ION283 treatment. Dr. Minassian assured us the licensing of ION283 will not impact the ION283 Safety Study at UT Southwestern.
Ionis stated, “This licensing agreement represents the culmination of an extensive process undertaken by Ionis to identify a partner for the ION283 program.”

Noventia Pharma is “a privately owned European specialty pharmaceutical company committed to advancing research to bring hope to those living with serious diseases… In seeking a partner, Ionis was looking for an organization who had the commitment and capability necessary to execute a global development program to evaluate ION283 in Lafora disease.” – Ionis

ASO therapy for Lafora disease

Alt text ION283 Therapy Roadmap Dr. Minassian's team recently submitted an Investigational New Drug application to the FDA for a safety study of ION283 ASO therapy. If approved, the safety study will enroll around 10 patients and will be held at UT Southwestern Medical Center in Dallas, Texas. Following FDA review, the information about the safety study will be found on clinicaltrials.gov, and Chelsea's Hope will send out further communication. Step 1: Drug development - lonis developed ION283, an ASO drug that inhibits Gys1, blocking glycogen build-up. Step 2: Animal Model Studies - ION283 was tested in in vitro cell lines as well as rodent & non-human primate models. The results were promising, showing halted accumulation of Lafora bodies and no adverse effects. We are here! Between steps 2 and 3. Step 3: Safety Study (2 years) - This is a will be the first trial of ION283 in humans, to determine the safety and ideal dosage level. Step 4: Efficacy Studies - A pharmaceutical company will need to purchase the drug and conduct phase 2/3 studies, which will enroll a larger number of patients with Lafora Disease to further understand the effectiveness of the drug. Finally, that leads us to FDA APPROVAL OF ION283 FOR TREATMENT OF LAFORA DISEASE.

Next Steps

Currently, the Lafora community can fundraise.

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. Read family stories about why they are fundraising and share with your friends!

We have a holiday auction from November 1-30th, too: https://givebutter.com/c/laforaauction/auction.

France Lafora is also fundraising HERE.

Our Collective Fundraising Progress

We are thrilled to share the collective fundraising efforts of our worldwide Lafora organizations: TempoZero, A.I.L.A., Cel-Luz, France Lafora, Chelsea’s Hope, and the Weiss family.

Together, we have raised $710,617 for the safety study.

We are almost to the halfway mark of the estimated budget! We can’t stop now!

The graphic shows a fundraising thermometer on the left. Text says $1,500,000 to fund the safety study. $1,000,000 in between and $710,617 in bold purple above text that says NEARLY HALFWAY THERE. DONATE HERE! is in a purple circle and @chelseashopelaforacure is towards the bottom of the image.