Actively Recruiting
A Phase 1/2 Open Label Study to Evaluate the Safety and Efficacy of Intrathecally Administered ION283 in Patients With Lafora Disease
Led by Berge Minassian · Updated on 2025-12-18
10
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
Sponsors
B
Berge Minassian
Lead Sponsor
E
Elpida Therapeutics SPC
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are evaluating the safety and effectiveness of ION283, an anti-sense oligonucleotide therapy given by injection into the spinal fluid through a lumbar puncture, in patients aged 10 to 18 years with Lafora disease. This open-label Phase 1/2 study aims to understand how well multiple doses of 15 mg ION283 work and how safe they are for these patients over a period of two years. Participants will receive an initial dose of 15 mg ION283 as an intrathecal bolus injection every 12 weeks during the 24-month open-label treatment period, following a 4-week screening period. All enrolled subjects will receive the same dose and treatment without placebo or comparison groups. Throughout the study, participants will undergo assessments including clinical evaluations, seizure frequency monitoring, and several quality of life and disability scales at baseline and after two years. Safety will be closely monitored by tracking treatment-related adverse events, and various EEG recordings will be used to assess changes in brain activity. Participants are expected to comply with study requirements for up to two years.
CONDITIONS
Brief Title
A Safety and Efficacy of Intrathecally Administered ION283 in Patients With Lafora Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Must give written informed consent and assent if applicable
- Aged 10 to 18 years old at time of consent
- Non-pregnant and non-lactating females
- Males and women of childbearing potential must avoid sperm/egg donation during and 12 weeks after treatment
- Use highly effective contraception during and 12 weeks after treatment if sexually active and of childbearing potential
- Genetically confirmed Lafora disease diagnosis
- Lafora Disease Performance Scale score of 9 or higher with motor subscore of 2 or higher (able to walk 10 steps independently)
You will not qualify if you...
- Significant medical issues such as recent stroke (within 6 months) or major surgery (within 3 months)
- Platelet count below 80,000/mm3 or other significant lab abnormalities
- History of bleeding disorders or coagulopathy
- Active infection requiring antiviral or antimicrobial therapy not completed before treatment
- Unwillingness to comply with study procedures or follow-up
- Contraindication or unwillingness to undergo lumbar puncture
- Known HIV, hepatitis C, or chronic hepatitis B infection
- Moderate to severe liver or kidney impairment
- Cancer within past 5 years except certain skin or cervical cancers or benign pediatric tumors
- Uncontrolled high blood pressure
- Previous oligonucleotide treatment within specified timeframes or hypersensitivity to ION283 or related compounds
- History of drug or alcohol abuse within 12 months or current abuse
- Participation in other clinical trials or investigational treatments within specified periods
- Use of certain blood thinning medications within 14 days before screening or anticipated use during the study
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 24 months
Participants receive intrathecal injections of ION283 every 12 weeks to evaluate safety and efficacy.
Injections every 12 weeks with periodic assessments
Trial Site Locations
Total: 1 location
1
Childrens Health
Dallas, Texas, United States, 75235
Actively Recruiting
Research Team
K
Kristy Riddle, RN, BSN
B
Ben Eckert, BA
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
Frequently Asked Questions
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