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ION283 for Lafora Disease

This study is testing a treatment called ION283 for people with Lafora Disease. ION283 is an anti-sense oligonucleotide therapy, which means it works by targeting specific genetic material. It is given through injections into the spinal fluid (intrathecal injections) via a lumbar puncture (LP). All 10 participants in this study will receive ION283 at a dose of 15 mg. The main goal is to see how safe ION283 is by tracking any treatment-related side effects over two years. To join, you must be between 10 and 18 years old and be willing to follow all study requirements. The study is currently recruiting participants.

Study design
This is an open-label study, meaning both you and the study team will know you are receiving ION283. It plans to enroll 10 participants in a single group.
What's involved
You would receive an initial 15 mg ION283 injection into your spinal fluid every 12 weeks for 24 months. There is also a 4-week screening period before treatment begins.
Compensation
Not stated in the trial record.
Follow-up
Your safety will be assessed for two years after starting treatment.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06609889

A Safety and Efficacy of Intrathecally Administered ION283 in Patients With Lafora Disease

Recruiting
PHASE1Ages 10–18InterventionalTreatment
Berge Minassian
~10 participants
Updated 2025-12-18 on ClinicalTrials.gov
What's tested:ION283

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Safety of ION283 as assessed by the number of participants with Treatment related AEs
Measured over 2 years

Conditions

Lafora Disease

Explore related trials

Lafora DiseaseEPM2A GLUCAN PHOSPHATASE, LAFORINNHL REPEAT-CONTAINING PROTEIN 1

NCT06609889

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Childrens Health

    Dallas, Texasstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Berge Minassian, MD · STUDY_DIRECTOR · University of Texas Southwestern Medical Center

Who to contact

Kristy Riddle, RN, BSN
[email protected]
214-456-9501
Email the study team

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Eligibility criteria

Inclusion

Must give written informed consent (and assent if indicated by patient's age and in accordance with local requirements) and be willing/able to comply with all study requirements.
Aged 10-18 (inclusive) years old at the time of informed consent.
Non-pregnant and non-lactating females
All male participants and women of childbearing potential must refrain from sperm/egg donation from the time of signing the informed consent/assent form until at least 12 weeks (approximately 5 half-lives of ION283) after the dose of Study Drug.
For participants engaged in sexual relations of childbearing potential, highly effective contraception must be used from the time of signing the informed consent/assent form until at least 12 weeks (approximately 5 half-lives of ION283) after receiving Study Drug.
Genetically confirmed diagnosis of Lafora disease before or at enrollment (documented pathogenic mutations in known causative genes (EPM2A/laforin, EPM2B/NHLRC1/malin)
Must have LDPS score ≥ 9 and LDPS motor subscore of ≥ 2 (independent ambulation- walking 10 steps independently)

Exclusion

Clinically significant abnormalities in medical history (e.g., previous stroke within 6 months of Screening, major surgery within 3 months of Screening) or physical examination
Platelet count \< 80,000/mm3 or any other clinically significant laboratory abnormalities that would render a patient unsuitable for inclusion.
History of bleeding diathesis or coagulopathy
Active infection requiring systemic antiviral or antimicrobial therapy that will not be completed prior to Study Day 1
Unwillingness to comply with study procedures, including follow-up, as specified by this protocol, or unwillingness to cooperate fully with the Investigator
Contraindication or unwillingness to undergo lumbar puncture
Known history of, or positive test for human immunodeficiency virus (HIV), hepatitis C or chronic hepatitis B
Moderate-to-severe hepatic impairment or renal impairment.
Malignancy within 5 years, except for basal or squamous cell carcinoma of the skin, carcinoma in situ of the cervix that has been successfully treated or benign pediatric tumors. Patients with a history of other malignancies that have been treated with curative intent and which have no recurrence within 5 years may also be eligible if approved by the Sponsor's Medical Monitor
Uncontrolled hypertension defined as:
Previous treatment with an oligonucleotide (including small interfering ribonucleic acid \[siRNA\]) within 4 months of Screening if single dose received, or within 12 months of Screening if multiple doses received; or history of hypersensitivity to ION283 or its excipients; or history of hypersensitivity to any ASO. This exclusion criterion does not apply to COVID-19 mRNA vaccinations
History of alcohol or drug abuse within 12 months of Screening, or current drug or alcohol abuse
Has enrolled in any clinical trial or used any investigational agent or device, or has participated in any investigational procedure, within the 30 days, or within 5 half-lives of investigational agent, whichever is longer, before screening or does so concurrently with this study
Use of antiplatelet or anticoagulant therapy within the 14 days prior to Screening (with the exception of aspirin ≤ mg/day) or anticipated use during the study, including but not limited to clopidogrel, dipyridamole, warfarin, dabigatran, rivaroxaban, and apixaban

What this trial measures

  • Safety of ION283 as assessed by the number of participants with Treatment related AEs2 years

    Safety of ION283 will be assessed by the number of participants with Treatment related Adverse Events (AEs) which will be listed according to the severity (mild, moderate, severe) as assessed by the Investigator. A dose limiting toxicity (DLT) is defined as any ≥ Grade 3 (severe, life-threatening, disabling, or fatal) AND related to the Study Drug. The occurrence of (i) DLTs in 2 patients following administration or (ii) a single serious adverse event (SAE) that is life threatening and related to Study Drug will result in termination of further dosing and the dose tested will be considered to be dose limiting.