Lafora DiseasePhase 1/2LaforaNCT06609889
A Safety and Efficacy of Intrathecally Administered ION283 in Patients With Lafora Disease
A Phase 1/2 study testing ION283 in people with Lafora Disease, run by Berge Minassian at 1 site in United States.
Trial summary
This study will test the safety and efficacy of multiple doses of ION283 administered as intrathecal (IT) injections by lumbar puncture (LP). All subjects will receive ION283. The dose level of 15 mg will be studied in all subjects. Read more about this study
- Who is it for?
- Ages 10 to 18 years
- Conditions the study is for
- Lafora Disease
- What is being tested?
- ION283
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- 3 Dec 2024to Oct 2028
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- General Inclusion Criteria
- 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.
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- Target Inclusion Criteria
- 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)
Who cannot join
- 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
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- 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:
- for patients < 13 years old, BP ≥ 95th percentile + 12 mmHg, or ≥ 140/90 mmHg, whichever is lower for patients ≥ 13 years old, BP ≥ 140/90 mmHg
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Ben Eckert, BA contact
United States1 site, 1 recruiting
- Recruiting
Childrens Health
Dallas, Texas, 75235
Berge Minassian, MD, LDRecruiting@utsouthwestern.edu
Ben Eckert, LDRecruiting@utsouthwestern.edu
About this study
Official title: A Phase 1/2 Open Label Study to Evaluate the Safety and Efficacy of Intrathecally Administered ION283 in Patients With Lafora Disease
This study will test the safety and efficacy of multiple doses of ION283 administered as intrathecal (IT) injections by lumbar puncture (LP). All subjects will receive ION283. The dose level of 15 mg will be studied in all subjects.
Read the detailed description
A Phase 1/2 Open Label Study to Evaluate the Safety and Efficacy of Intrathecally Administered ION283 in Patients with Lafora Disease
A single cohort will be evaluated in the study:
N=10
- Initial dose of 15 mg ION283 intrathecal bolus (ITB) injection every 12 weeks.
The study consists of 2 periods:
- Screening Period: 4 weeks
- Open label Treatment Period: 24 months
- Conditions
- Lafora Disease
- Being tested
- ION283
- Keywords
- Lafora Disease
- Medical subject headings
- Lafora Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ION283Genetic
Anti-sense Oligonucleotide therapy that includes intrathecal (IT) injections by lumbar puncture (LP) with dose level of 15 mg.
| Study group | Role | What they receive |
|---|---|---|
| ION283 Arm | Experimental | Open label evaluation of ION283. All subjects with Lafora disease enrolled in this study will receive ION283. Receives: Genetic: ION283 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety of ION283 as assessed by the number of participants with Treatment related AEs
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.
Measured: 2 years
Secondary outcomes (12)
Efficacy of ION283 as measured by Lafora Disease Performance Scale
A change from baseline at 2 years in Lafora Disease performance Scale scores will be assessed. The Lafora Disease Performance Scale assesses disease severity across 6 domains (seizures, myoclonus, ambulation, cognition, speech, function/activity of daily living). For each domain, a score between 3 (best performance) and 0 (worst performance) is assigned. The scores of each domain are added up to a total score.
Measured: Baseline, 2 years
Efficacy of ION283 as measured by Pediatric Evaluation of Disability Inventory Scale
A change from baseline at 2 years in Pediatric Evaluation of Disability Inventory (PEDI) Scale scores will be assessed. The PEDI measures abilities in three functional domains: daily activities, mobility and social/cognitive. The PEDI's responsibility domain measures the extent to which the caregiver or child takes responsibility for managing complex, multi-step life tasks. Possible scores range from 0-100 where higher scores indicate better outcome.
Measured: Baseline, 2 years
Efficacy of ION283 as measured by Parent Global Impression of Change Scale
A change from baseline at 2 years in Parent Global Impression of Change (PGI) Scale scores will be assessed. The PGI scale is a single, self-administered questionnaire reflects a patient's belief about the efficacy of treatment (i.e., how their condition has changed since a certain point in time after treatment). Possible scores range from 0-5 where higher scores indicate better outcome.
Measured: Baseline, 2 years
Efficacy of ION283 as measured by Clinical Global Impression of Change Scale
A change from baseline at 2 years in Clinical Global Impression of Change (CGI) Scale scores will be assessed. The CGI scale is a seven-point scale that clinicians use to assess how much a patient's illness has improved or worsened since the beginning of treatment. Possible scores range from 1-7 where lower scores indicate better outcome.
Measured: Baseline, 2 years
Efficacy of ION283 as measured by Quality of Life in Childhood Epilepsy questionnaire
A change from baseline at 2 years in score scales of the Quality of Life in Childhood Epilepsy (QOLCE-55) questionnaires will be assessed. Possible scores range from 0-100 where higher scores reflect higher quality of life. QOLCE-55 is a parent proxy QoL questionnaire for children with epilepsy. It will be used throughout the study for patients who are 5 to 10 years old at Screening. Subject who progress to the next age category over the course of the study will continue to be evaluated according to the initial testing instrument.
Measured: Baseline, 2 years
Efficacy of ION283 as measured by Quality of Life in Epilepsy for Adolescents questionnaire
A change from baseline at 2 years in score scales of the Quality of Life in Epilepsy (QOLIE-AD48) for Adolescents questionnaires will be assessed. Possible scores range from 0-100 where higher scores reflect higher quality of life. QOLIE-AD48 is a survey of health-related QoL for adolescents with epilepsy. It will be used throughout the study by patients who are 11 to 17 years of age at Screening.
Measured: Baseline, 2 years
Efficacy of ION283 as measured by Patient-Weighted Quality of Life in Epilepsy inventory questionnaire
A change from baseline at 2 years in score scales of the Patient-Weighted Quality of Life in Epilepsy inventory (QOLIE-31P) (version 2) questionnaires will be assessed. Possible scores range from 0-100 where higher scores reflect higher quality of life.
QOLIE-31P (version 2) is a survey of health-related QoL for adults. It will be used throughout the study by patients who are 18 years of age or older at Screening.
Measured: Baseline, 2 years
Efficacy of ION283 as measured by change in frequency of seizures from baseline
The change in frequency of seizures [for Tonic Clonic Seizures (TCS) and status Epilepticus] from baseline at 2 years would be assessed.
Measured: Baseline, 2 years
Efficacy of ION283 as measured by change in EEG recordings from baseline: Background rhythms (posterior dominant rhythm)
The change in Electroencephalogram (EEG) activity (i.e., frequency of background/ posterior dominant EEG rhythms) from baseline at 2 years would be assessed.
Measured: Baseline, 2 years
Efficacy of ION283 as measured by change in EEG recordings from baseline: Background rhythms ( normal versus abnormal sleep physiology to include presence of sleep spindles)
The change in Electroencephalogram (EEG) activity (i.e., frequency of background EEG rhythms-normal versus abnormal sleep physiology to include presence of sleep spindles) from baseline at 2 years would be assessed.
Measured: Baseline, 2 years
Efficacy of ION283 as measured by change in EEG recordings from baseline: Electrographic seizures on EEG
The change in Electroencephalogram (EEG) activity (i.e., frequency of Electrographic seizures) from baseline at 2 years would be assessed.
Measured: Baseline, 2 years
Efficacy of ION283 as measured by change in EEG recordings from baseline: Epileptiform discharges
The change in Electroencephalogram (EEG) activity (i.e., counts of epileptiform discharges) from baseline at 2 years would be assessed.
Measured: Baseline, 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Sep 2024
- Study start3 Dec 2024
- Primary completionOct 2027 (estimated)
- Study completionOct 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lafora DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Berge Minassian
- Sponsor type
- University, hospital or other
- Collaborators
- Elpida Therapeutics SPC
- Responsible party
- Sponsor-investigator, Berge Minassian, University of Texas Southwestern Medical Center
- Investigators
- Berge Minassian, MD, Study director, University of Texas Southwestern Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06609889
- Sponsor's protocol ID
- STU-2024-0411
- Acronym
- Lafora
- Status last verified
- Dec 2025
- First submitted
- 10 Aug 2024
- Last updated
- 18 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 1/2 Open Label Study to Evaluate the Safety and Efficacy of Intrathecally Administered ION283 in Patients With Lafora Disease
- ClinicalTrials.gov ID
- NCT06609889
- Acronym / sponsor ID
- Lafora / STU-2024-0411
- Conditions
- Lafora Disease
- Keywords
- Lafora Disease
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Berge MinassianUniversity, hospital or other
- Collaborators
- Elpida Therapeutics SPC
- Study start
- 3 Dec 2024 (actual)
- Primary completion
- Oct 2027 (estimated)
- Study completion
- Oct 2028 (estimated)
- First posted
- 24 Sep 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will test the safety and efficacy of multiple doses of ION283 administered as intrathecal (IT) injections by lumbar puncture (LP). All subjects will receive ION283. The dose level of 15 mg will be studied in all subjects.
Detailed description
A Phase 1/2 Open Label Study to Evaluate the Safety and Efficacy of Intrathecally Administered ION283 in Patients with Lafora Disease
A single cohort will be evaluated in the study:
N=10
- Initial dose of 15 mg ION283 intrathecal bolus (ITB) injection every 12 weeks.
The study consists of 2 periods:
- Screening Period: 4 weeks
- Open label Treatment Period: 24 months
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| ION283 Arm | Experimental | Genetic: ION283Open label evaluation of ION283. All subjects with Lafora disease enrolled in this study will receive ION283. |
Who may qualify
- Ages
- 10 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (9 listed)
- General Inclusion Criteria
- 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.
Key exclusion criteria (15 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| ION283Anti-sense Oligonucleotide therapy that includes intrathecal (IT) injections by lumbar puncture (LP) with dose level of 15 mg. | Genetic | ION283 Arm |
Primary outcome
Safety of ION283 as assessed by the number of participants with Treatment related AEs
Time frame: 2 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.
12 secondary outcomes
Efficacy of ION283 as measured by Lafora Disease Performance Scale
Time frame: Baseline, 2 years
Efficacy of ION283 as measured by Pediatric Evaluation of Disability Inventory Scale
Time frame: Baseline, 2 years
Efficacy of ION283 as measured by Parent Global Impression of Change Scale
Time frame: Baseline, 2 years
Efficacy of ION283 as measured by Clinical Global Impression of Change Scale
Time frame: Baseline, 2 years
Efficacy of ION283 as measured by Quality of Life in Childhood Epilepsy questionnaire
Time frame: Baseline, 2 years
Efficacy of ION283 as measured by Quality of Life in Epilepsy for Adolescents questionnaire
Time frame: Baseline, 2 years
Efficacy of ION283 as measured by Patient-Weighted Quality of Life in Epilepsy inventory questionnaire
Time frame: Baseline, 2 years
Efficacy of ION283 as measured by change in frequency of seizures from baseline
Time frame: Baseline, 2 years
Efficacy of ION283 as measured by change in EEG recordings from baseline: Background rhythms (posterior dominant rhythm)
Time frame: Baseline, 2 years
Efficacy of ION283 as measured by change in EEG recordings from baseline: Background rhythms ( normal versus abnormal sleep physiology to include presence of sleep spindles)
Time frame: Baseline, 2 years
Efficacy of ION283 as measured by change in EEG recordings from baseline: Electrographic seizures on EEG
Time frame: Baseline, 2 years
Efficacy of ION283 as measured by change in EEG recordings from baseline: Epileptiform discharges
Time frame: Baseline, 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Dec 2025.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Ben Eckert, BA contact
Berge Minassian, MD study director
University of Texas Southwestern Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing ION283 in people with Lafora Disease, run by Berge Minassian at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 15 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 18 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Kristy Riddle, RN, BSN (214-456-9501, LDRecruiting@utsouthwestern.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Safety of ION283 as assessed by the number of participants with Treatment related AEs (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Dec 2025.