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HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome

Phase 1
Active, not recruiting
Conditions
Angelman Syndrome
Interventions
Registration Number
NCT05127226
Lead Sponsor
Ionis Pharmaceuticals, Inc.
Brief Summary

The purpose of this study is to evaluate the safety and tolerability of ascending doses of ION582 administered intrathecally in participants with Angelman syndrome.

Detailed Description

This is a Phase 1-2a, open-label study consisting of 3 parts. Part 1 is a multiple ascending dose (MAD) study, consisting of a 13-week MAD Treatment Period and a minimum 12-week but up to 32-week Post-MAD Follow-Up Period. Part 2 is a multi-center 49-week study where participants who completed Part 1 will receive IT bolus doses of ION582 followed by a minimum 12-week Part 2 follow up period. Part 3 extends the treatment period for participants who completed Part 2 for up to an additional 3 years followed by a 32-week post-LTE follow up period. The study will enroll approximately 44, and up to 55, participants.

Recruitment & Eligibility

Status
ACTIVE_NOT_RECRUITING
Sex
All
Target Recruitment
51
Inclusion Criteria
  1. Participant has a documented and certified diagnosis of Angelman syndrome (AS) (ubiquitin-protein ligase E3A [UBE3A] deletion or UBE3A mutation)
  2. Male or female between the ages of 2-50 years of age, with signed informed consent from parent(s) or legal guardian(s)
  3. Currently receiving stable standard of care treatments such as, stable doses of anti-epileptic medication, behavioral management medications, sleep medications, gabapentin, cannabidiol, and including special diets, supplements or nutritional support for at least 3 months prior to first dose.
  4. Follow good study practice and not participate in the sharing of personal or study information on social media platforms, such as any website or social media site (e.g., Facebook, Instagram, Twitter, YouTube, etc.) until notified that the study is completed.
Exclusion Criteria
  1. Has documented molecular AS confirmation of paternal uniparental disomy (UPD) or imprinting defect (ID).
  2. Any clinically significant (CS) cardiovascular, endocrine, hepatic, renal, pulmonary, gastrointestinal, neurologic, malignant, metabolic, psychiatric, or other condition that, in the judgment of the Investigator, will pose a safety risk, will make the patient unsuitable for participation in, and/or unable to complete the study procedures. Has poorly controlled seizures as determined by the Investigator or has documented Status Epilepticus in the past 6 months that could pose a safety risk while on study.
  3. Known bone, spine, bleeding, or other disorder that exposes the patient to risk of injury or unsuccessful lumbar puncture. Previous treatment with an oligonucleotide (including small interfering ribonucleic acid, antisense oligonucleotide [ASOs]). COVID-19 vaccinations are allowed.
  4. Any prior use of gene therapy. Have any other conditions, which, in the opinion of the Investigator would make the participant unsuitable for inclusion or could interfere with the participant taking part in or completing the study.

Study & Design

Study Type
INTERVENTIONAL
Study Design
SEQUENTIAL
Arm && Interventions
GroupInterventionDescription
Part 3 Group 1ION582ION582 will be administered as IT injection of over a period of 145 weeks, with additional dosing intervals.
Part 1 MAD: Cohort BION582ION582 will be administered as IT injection over a period of 13 weeks, with a minimum of approximately 4 weeks between each dose administration.
Part 1 MAD: Cohort DION582ION582 will be administered as IT injection over a period of 13 weeks, with a minimum of approximately 4 weeks between each dose administration.
Part 2 Group 1ION582ION582 will be administered as IT injection of over a period of 49 weeks, with additional dosing intervals.
Part 3 Group 2ION582ION582 will be administered as IT injection of over a period of 145 weeks, with additional dosing intervals.
Part 2 Group 2ION582ION582 will be administered as IT injection of over a period of 49 weeks, with additional dosing intervals.
Part 1 MAD: Cohort CION582ION582 will be administered as IT injection over a period of 13 weeks, with a minimum of approximately 4 weeks between each dose administration.
Part 1 MAD: Cohort AION582ION582 will be administered as IT injection over a period of 13 weeks, with a minimum of approximately 4 weeks between each dose administration.
Part 1 MAD: Cohort EION582ION582 will be administered as IT injection of over a period of 13 weeks, with a minimum of approximately 4 weeks between each dose administration.
Primary Outcome Measures
NameTimeMethod
To evaluate the safety and tolerability of single and multiple doses of ION582 (incidence, severity, and dose-relationship of adverse effects and changes in the laboratory parameters).Part 1: Up to Week 45; Part 2: Up to Week 81

The safety and tolerability of ION582 will be assessed by determining the incidence, severity, and dose relationship of adverse effects and changes in the laboratory parameters by dose.

Secondary Outcome Measures
NameTimeMethod
Time to Reach Maximal Plasma Concentration (Tmax) of ION582Part 1: Up to Week 45; Part 2: Up to Week 81
Maximum Observed Plasma Concentration (Cmax) of ION582Part 1: Up to Week 45; Part 2: Up to Week 81
Plasma Elimination Half-Life (t1/2λz) of ION582Part 1: Up to Week 45; Part 2: Up to Week 81
Concentration ION582 in CSFPart 1: Up to Week 13; Part 2: Up to Week 49

Trial Locations

Locations (11)

Rady Children's Hospital

🇺🇸

San Diego, California, United States

Rush University Medical Center

🇺🇸

Chicago, Illinois, United States

University of North Carolina at Chapel Hill School of Medicine

🇺🇸

Carrboro, North Carolina, United States

Texas Children's Hospital

🇺🇸

Houston, Texas, United States

Sydney Children's Hospital, Kids Cancer Centre

🇦🇺

Randwick, Australia

Necker-Enfants Malades Hospital

🇫🇷

Paris, France

Boston Children's Hospital

🇺🇸

Boston, Massachusetts, United States

Colorado Children's Hospital Research Institute

🇺🇸

Aurora, Colorado, United States

Sheba Medical Center

🇮🇱

Ramat Gan, Israel

STRONG Group University of Oxford

🇬🇧

Oxford, Oxfordshire, United Kingdom

Azienda Ospedaliera Universitaria Pisana

🇮🇹

Pisa, Italy

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