On June 18th, Chelsea’s Hope hosted a Q&A session with Dr. Berge Minassian and Dr. Souad Messahel to discuss the ION283 Safety Study. Dr. Minassian shared that six patients have been treated so far, and three of those patients have now received multiple doses of ION283 without any safety concerns. The seventh patient will be enrolled by the end of June, and patients eight and nine have been notified of their inclusion in the study. Patient ten will be notified later this summer.
During the Q&A session, families asked questions about the FDA approval process, how soon we can expect results, and the next steps for advancing this treatment through the therapeutic pipeline. Check out our FAQ section below to read the responses to these questions.
Chelsea’s Hope has not stopped fundraising, but we need everyone’s help! We created a campaign to fully fund the safety study that you can join. Here’s a short video walking you through how to get set up, or you can read instructions in the fundraising toolkit. The toolkit is packed with info to help you with your fundraising page.
Families, one effective way of fundraising is sharing your story. Please get in touch with us if we can help you in any way!
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 more than one million dollars for the safety study.
Thanks to our global fundraising efforts, we were able to enroll the first six patients as quickly as the hospital could accommodate them. Our goal was to raise 100% of the budget by June 1st in order to enroll all 10 patients as fast as possible. Although we did not raise the full amount by June 1st, we can continue to enroll patients as soon as sufficient funds are available to initiate their treatment. We are now three-fourths of the way to our estimated budget. We can’t stop now! Let’s raise 100% of the budget this summer so that the remaining patients can be enrolled as soon as possible.
The estimated cost of the Safety Study is $1.5 million USD. We encourage donations through a patient organization, but you can give directly to UTSW (contact us to find out how!).
“Officially fundraising for Patient 8 to join the Lafora Safety Study 🎉
Thanks to your generous contributions, we’ve raised enough funds and pledges to enroll Patient 7 in the ION283 Safety Study…[read more].
After a one-month pause for a safety check, the university’s board approved the continuation of the study.
We are excited to share that the first patient is in Dallas and received their first dose of ION283 in December. We are working on getting permission to share updates with the community.
Families, the UTSW team will contact you directly if they can enroll your loved one. All information is kept confidential. Please join us in respecting the privacy of the safety study participants and in celebrating the news from Dr. Minassian that the safety study has started!
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.
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.
The FDA approved the ION283 Safety Study in August!
Please feel free to send us any inquiries you have about the study if your question isn’t answered by our FAQs below.
What is the ION283 Safety Study?
This 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.
Who is leading it?
Dr. 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.
Where will the study take place?
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.
How long is the study?
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.
How many patients will be enrolled?
The FDA approved a total of 10 patients for enrollment in the safety study. The application opened in November 2024, and applicants were admitted on a first-come, first-served basis. The 10 patients have now been selected and are in the process of starting enrollment. No more applications are being accepted.
What is the cost?
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.
Can the safety study be expanded?
That depends on several factors. The current answer, unfortunately, is probably not. The FDA only approved the protocol for 10 patients. The investigators at UTSW could submit an amendment to expand the study, but they would need permission from Noventia, the pharma company that owns the license for ION283. Enough drug for 10 patients is guaranteed; however, additional drug for more patients would need to be negotiated with Noventia.
How soon will we know if ION283 is an effective treatment?
So far, no patients have had an adverse reaction to the drug, so that is good news for the safety of the drug. However, safety is not the same as efficacy.
In order to show that the drug is effective, we need data that shows that patients remain stable over a significant period of time without the disease progressing. We will need the full two years of the study in order to determine if the drug made a significant difference to stop disease progression.
Does the current batch of ION283 have an expiration date?
The ION283 drug is very stable, so we do not need to worry about an expiration date for the safety study. However, the FDA requires that the drug get recertified periodically. The current batch of ION283 would need to be recertified in September 2027. We hope that the study will be concluded by that time, but if patients are still receiving treatment, Ionis will get the drug recertified so they can continue treatment.
What is the frequency of injections for ION283? Would patients need injections for their entire lives?
The frequency of injections is every three months. Yes, patients would need to continue for their entire lives.
What dosage amount of ION283 is being used in the safety study?
Currently, they are using 15ml of ION283. Ionis is doing the pharmacoanalysis of the lower doses. Once they finish, the team at UTSW is prepared to send a letter to the FDA with the analysis results and seek to raise the dose to 30 ml. If successful, any future dosage for all patients will be at 30 ml.
How can I donate?
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.
If I donate, will my child be guaranteed a spot in the safety study?
No. To keep the process fair, you cannot pay to have your child join the study. The 10 patients have already been selected through a first-come, first-served application process. Donations to the fund have no impact on who is selected to participate in the trial!
Besides donating, how can I support the study?
Connect with Chelsea’s Hope for updates on the study, and help us spread the word!
How is the safety study connected to Noventia’s plans for a clinical trial in Italy?
Noventia Pharma assumed full responsibility for developing and evaluating the ION283 treatment last year. We are waiting for an update from Noventia about their plans for a clinical trial, however, we know that the safety study is a crucial step forward towards developing a potential treatment for Lafora disease.
The results from the study will be important for any clinical trial. This safety study will determine not only the safety of the drug, but also the correct dose for effective treatment. Noventia will be able to use the data collected from the safety study to accelerate the approval process for this treatment.
Who is Noventia Pharma?
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
How can I learn more?
More information about the safety study can be found on clinicaltrials.gov (https://clinicaltrials.gov/study/NCT06609889). Visit this webpage to learn about the inclusion/exclusion criteria, protocol, and contact information. Chelsea’s Hope continues to assist with fundraising for the study and receives regular updates on the study progress at UTSW. 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.
The mission of Chelsea’s Hope is to improve the lives of those affected by Lafora Disease and help accelerate the development of treatments.
Chelsea’s Hope Lafora Children Research Fund is an IRS 501(c)3 non-profit organization. EIN: 27-1008382
Chelsea’s Hope c/o Dr. Donohue
976 Maywick Dr.
Lexington, KY 40504
