Recruiting
Phase 1
Phase 2

ION440

Sponsor:

Ionis Pharmaceuticals, Inc.

Code:

NCT06430385

Conditions

Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

Eligibility Criteria

Sex: Male

Age: 2 - 65

Healthy Volunteers: Not accepted

Interventions

ION440

Sham procedure

Study Details

Brief summary:

The primary purpose of this study is to evaluate the safety and tolerability of ION440.

Conditions

Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

Study ID

NCT06430385

Start date

Oct 21, 2024

Status verified date

Mar, 2026

Completion date

Apr, 2030

Anticipated

Primary completion date

Sep, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: Male

Age: 2 - 65

Healthy Volunteers: Not accepted

Key Inclusion criteria for Part 1:

1. Males aged ≥ 2 to ≤ 65 years, depending on specific cohort and group, at the time of informed consent.

1. Group A: ≥ 8 to ≤ 65 years old
2. Group B: 2 to 7 years old, inclusive
2. Participant has at least one parent or caregiver ≥ 18 years old capable of providing informed consent and able to comply with all study requirements and activities.
3. Participant has a documented diagnosis of MDS with genetic confirmation of MECP2 duplication.
4. Is currently receiving stable doses of concomitant medications for at least 1 month prior to screening.
5. Able to complete all study procedures, measurements and visits to support primary and secondary endpoints, in the opinion of the Investigator.

Key Exclusion criteria for Part 1:

1. Documented diagnosis of severe MECP2 duplications including terminal duplication and/or translocation or MECP2 triplication OR clinical features associated with severe variant structure including (a) onset of seizures prior to age 5 (for those aged 5 and above at signing of ICF), (b) oxygen dependence, (c) microcephaly, IF MECP2 genetic structure information is unavailable.
2. Clinically significant vital sign or ECG abnormality at Screening
3. Known brain or spinal disease that would interfere with the LP procedure, or CSF circulation or presence of other factors would affect the safety of the LP procedure.
4. Has any concomitant disease or condition or circumstance, or any finding at Screening that, in the opinion of the Investigator, makes the participant unsuitable for enrollment or that could interfere with the conduct of the study or that would pose an unacceptable risk to the participant in this study.
5. Treatment with an investigational drug, biological agent, or device within 30 days of Screening, or 5 half-lives of investigational agent, whichever is longer.
6. Previous treatment with an oligonucleotide (including siRNA) within 4 months of Screening if single dose received, or within 12 months of Screening if multiple doses received (this exclusion does not apply to vaccines - both mRNA and viral vector vaccines are allowed including COVID-19). For centrally administered ASOs, a minimum of 12 months washout is required irrespective of the number of doses received.
7. Currently enrolled in a clinical trial of an investigational agent or device or has used any investigational agent or device within 5 half-lives of investigational agent, whichever is longer.
8. Has a history of gene therapy or cell transplantation or any other experimental brain surgery.
9. Active infection requiring systemic antiviral or antimicrobial therapy that will not be completed prior to Baseline (Day 1).
10. Has experienced Status Epilepticus in the past 6 months.

Key Inclusion criteria for Part 2:

1. Participants in ION440-CS1, Part 1/MAD who received at least one dose of Study Drug /Sham in Part 1/MAD, missed no more than 1 study visit, and attended the Follow Up visit (Visit 6).
2. All inclusion criteria in Part 1/MAD apply (participants will not be required to undergo new Screening bloodwork).

Key Exclusion criteria for Part 2:

1\. Has developed any concomitant disease (e.g., gastrointestinal, renal, hepatic, endocrine, respiratory, or cardiovascular system disease) or condition or circumstance, or any finding during Part 1/MAD that, in the opinion of the Investigator, makes the participant unsuitable for continued treatment (e.g., could interfere with the conduct of the study or that would pose an unacceptable risk to the participant in this study).

Study Design

Enrollment

48 participants

Anticipated

Allocation

Randomized

Intervention Model

Sequential

Primary purpose

Treatment

Interventions and Outcome Measures

Arms

experimental: Cohort 1: ION440 Dose A

Participants will receive ION440 intrathecally at Dose A during Part 1/MAD, followed by ION440 Dose A during Part 2/LTE.

experimental: Cohort 2: ION440 Dose B

Participants will receive ION440 intrathecally at Dose B during Part 1/MAD, followed by ION440 Dose B during Part 2/LTE.

experimental: Cohort 3: ION440 Dose C

Participants will receive ION440 intrathecally at Dose C during Part 1/MAD, followed by ION440 Dose C during Part 2/LTE.

sham comparator: Sham Procedure

During the Part 1/MAD period, a lumbar procedure (LP) will be performed at the same frequency as ION440 administration. Participants will not receive ITB injections during this period. It will be followed by the open-label Part 2/LTE period, where participants will receive ION440 at the same dose as their enrolled cohort (e.g. Dose A, Dose B or Dose C).

Interventions

ION440

ION440 will be administered by intrathecal bolus (ITB) injection.

Sham procedure

An LP will be performed with CSF collection but will not be followed by the administration of study treatment by ITB injection.

Primary outcome measure

  • Part 1: Number of Participants With Treatment-Emergent Adverse Events (TEAEs) [ Time Frame: Up to approximately 36 weeks ]
  • Part 1: Number of Participants With Clinically Significant Change From Baseline in Vital Signs [ Time Frame: Baseline up to approximately 36 weeks ]
  • Part 1: Number of Participants With Clinically Significant Change From Baseline in Physical and Neurological Examination Findings [ Time Frame: Baseline up to approximately 36 weeks ]
  • Part 1: Number of Participants With Clinically Significant Change from Baseline in Laboratory Assessments [ Time Frame: Baseline up to approximately 36 weeks ]
  • Part 1: Number of Participants With Clinically Significant Change From Baseline in Electrocardiogram (ECG) [ Time Frame: Baseline up to approximately 36 weeks ]
  • Part 2: Number of Participants With TEAEs [ Time Frame: Up to approximately 192 weeks ]
  • Part 2: Number of Participants With Clinically Significant Change From Baseline in Vital Signs [ Time Frame: Baseline up to approximately 192 weeks ]
  • Part 2: Number of Participants With Clinically Significant Change From Baseline in Physical and Neurological Examination Findings [ Time Frame: Baseline up to approximately 192 weeks ]
  • Part 2: Number of Participants With Clinically Significant Change from Baseline in Laboratory Assessments [ Time Frame: Baseline up to approximately 192 weeks ]
  • Part 2: Number of Participants With Clinically Significant Change From Baseline in ECG [ Time Frame: Baseline up to approximately 192 weeks ]

Central Contacts and Locations

Central contacts

Locations

Rady Children's Hospital

Recruiting

San Diego, California, United States, 92123

University of Colorado Hopsital - Anschutz Medical Campus

Recruiting

Aurora, Colorado, United States, 80045

Kennedy Krieger

Recruiting

Baltimore, Maryland, United States, 21205

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Gillette Children's Specialty Healthcare

Recruiting

Saint Paul, Minnesota, United States, 55101

Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Vanderbilt University Medical Center

Recruiting

Nashville, Tennessee, United States, 37232

Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030

More Information

Sponsor

Ionis Pharmaceuticals, Inc.

Last update posted

Mar 24, 2026

Last verified

Mar, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Ionis Pharmaceuticals, Inc. on 2026-03-24.