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

NCT06609889 | Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: STU-2024-0411
• Study Type: interventional
• Target: 10
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Lafora Disease

Keywords

Lafora Disease

Outcome Measures

Primary Outcomes (1)

• 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.

  2 years

Secondary Outcomes (12)

• Efficacy of ION283 as measured by Lafora Disease Performance Scale

  Baseline, 2 years

• Efficacy of ION283 as measured by Pediatric Evaluation of Disability Inventory Scale

  Baseline, 2 years

• Efficacy of ION283 as measured by Parent Global Impression of Change Scale

  Baseline, 2 years

• Efficacy of ION283 as measured by Clinical Global Impression of Change Scale

  Baseline, 2 years

• Efficacy of ION283 as measured by Quality of Life in Childhood Epilepsy questionnaire

  Baseline, 2 years

Study Arms (1)

ION283 Arm

EXPERIMENTAL

Open label evaluation of ION283. All subjects with Lafora disease enrolled in this study will receive ION283.

Genetic: ION283

Interventions

ION283 GENETIC

Anti-sense Oligonucleotide therapy that includes intrathecal (IT) injections by lumbar puncture (LP) with dose level of 15 mg.

ION283 Arm

Eligibility Criteria

• Age: 10 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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)

You may not qualify if:

• 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
• 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:
• 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
• 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

Sponsors & Collaborators

• Berge Minassian: lead
• Elpida Therapeutics SPC: collaborator

Study Sites (1)

Childrens Health

Dallas, Texas, 75235, United States

RECRUITING

MeSH Terms

Conditions

Lafora Disease

Condition Hierarchy (Ancestors)

Myoclonic Epilepsies, Progressive; Epilepsies, Myoclonic; Epilepsy, Generalized; Epilepsy; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epileptic Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Berge Minassian, MD

  University of Texas Southwestern Medical Center

  STUDY DIRECTOR

Central Study Contacts

Kristy Riddle, RN, BSN

CONTACT

214-456-9501; LDRecruiting@utsouthwestern.edu

Ben Eckert, BA

CONTACT

LDRecruiting@utsouthwestern.edu

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor & Division Chief (Pediatrics-Neurology)

Study Record Dates

• First Submitted: August 10, 2024
• First Posted: September 24, 2024
• Study Start: December 3, 2024
• Primary Completion (Estimated): October 1, 2027
• Study Completion (Estimated): October 1, 2028
• Last Updated: December 18, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)