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BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.

5 november 2026 uppdaterad av: OHB Pediatrics Ltd.

A Randomized, Multi-center, Double-blind, Sham-controlled, Phase III Clinical Study to Evaluate the Efficacy and Safety of Intrathecally Administered Rugonersen in Pediatric and Adult Participants With Angelman Syndrome

Purpose of the study is to evaluate the efficacy and safety of intrathecally administered rugonersen in pediatric and adult participants with Angelman syndrome.

Studieöversikt

Status

Rekrytering

Betingelser

Intervention / Behandling

Detaljerad beskrivning

This study is a Phase III, randomized, double-blind, sham-controlled, multi center study designed to evaluate the efficacy and safety of intrathecally (IT) administered rugonersen compared with sham in up to 165 participants with AS (Part 1), followed by an open-label extension (OLE) of approximately 116 weeks (2 years) for long-term evaluation of the efficacy and safety of IT administered rugonersen in participants with AS (Part 2).

Studietyp

Interventionell

Inskrivning (Beräknad)

165

Fas

  • Fas 3

Utökad åtkomst

Tillgängligt utanför den kliniska prövningen. Se utökad åtkomstpost.

Kontakter och platser

Det här avsnittet innehåller kontaktuppgifter för dem som genomför studien och information om var denna studie genomförs.

Studiekontakt

Studieorter

  • Förenta staterna
    • California
      • Los Angeles, California, Förenta staterna, 90048
        • Rekrytering
        • Cedars-Sinai Medical Center
        • Huvudutredare:
          • Cesar Ochoa-Lubinoff
      • San Diego, California, Förenta staterna, 92123
        • Rekrytering
        • Rady Children's Hospital
        • Huvudutredare:
          • Lynne Bird
    • Colorado
      • Aurora, Colorado, Förenta staterna, 80045
        • Rekrytering
        • Children's Hospital Colorado
        • Huvudutredare:
          • Diana Walleigh
    • Florida
      • Miami, Florida, Förenta staterna, 33155
        • Rekrytering
        • Nicklaus Children's Hospital
        • Huvudutredare:
          • Paula Schleifer
    • Illinois
      • Chicago, Illinois, Förenta staterna, 60612
        • Rekrytering
        • Rush University
        • Huvudutredare:
          • Elizabeth Berry-Kravis
    • North Carolina
      • Chapel Hill, North Carolina, Förenta staterna, 27510
        • Rekrytering
        • University of North Carolina at Chapel Hill School of Medicine
        • Huvudutredare:
          • Elizabeth Jalazo
    • Tennessee
      • Nashville, Tennessee, Förenta staterna, 37232
        • Rekrytering
        • Vanderbilt University Medical Center - Monroe Carell Jr. Children's Hospital
        • Huvudutredare:
          • Robert Carson
  • Sydkorea
    • Jongno District
      • Seoul, Jongno District, Sydkorea
        • Rekrytering
        • Seoul National University Hospital
        • Huvudutredare:
          • Jong-Hee Chae
  • Taiwan
      • Taichung, Taiwan, 404
        • Rekrytering
        • China Medical University Hospital
        • Huvudutredare:
          • I-Ching Chou
    • Taipei City
      • Taipei, Taipei City, Taiwan, 100225
        • Rekrytering
        • National Taiwan University Hospital
        • Huvudutredare:
          • Wang-Tso Lee

Deltagandekriterier

Forskare letar efter personer som passar en viss beskrivning, så kallade behörighetskriterier. Några exempel på dessa kriterier är en persons allmänna hälsotillstånd eller tidigare behandlingar.

Urvalskriterier

Åldrar som är berättigade till studier

1 år till 50 år (Barn, Vuxen)

Tar emot friska volontärer

Nej

Kön som är behöriga för studier

Allt

Beskrivning

Inclusion Criteria:

  • Male or female and ≥ 1 year to ≤ 50 years of age at signing of the informed consent form.

  • Independent of the age of the participant, the participant has a parent, caregiver or legal representative (herein after referred to as caregiver) who is reliable and competent in the Investigator's judgement. The caregiver is:

    • Able to consent for the participant according to ICH and local regulations,
    • At least 18 years of age,
    • Willing and able to accompany the participant to clinic visits and be available to the investigational site by telephone, email, or other electronic form as needed,
    • Is, and will likely remain, sufficiently knowledgeable of participant's condition throughout the study to be able to respond to queries, and is willing and able to complete caregiver assessments and inform the site personnel about the participant's condition as requested.

  • Clinical diagnosis of Angelman syndrome.

  • Pre-existing medical records confirm the clinical diagnosis of AS and the molecular diagnosis with genotypic classification of either:

    • Mutation in the UBE3A gene, and the pathogenic or likely pathogenic variant identified,
    • Deletion on the maternally inherited chromosome 15q11-q13 that encompasses the UBE3A gene.

  • Able to comply with all study requirements.

  • Able to tolerate blood draws.

  • Able to undergo LP and IT injection, under sedation or anesthesia without intubation as deemed appropriate.

  • Has stable medical status for at least 4 weeks prior to screening and at the time of enrolment.

  • Bodyweight > 7.5 kg

  • Legally authorized representative/caregiver(s) agree(s) not to share any of the participant's personal medical data or information related to the study by any means, including, e.g., a website or a post on a social media site (e.g., Facebook, Instagram, Twitter, YouTube, TikTok, etc.) from the time of enrollment until they are notified that the study is completed.

  • Stable permitted medications (including cannabidiol [CBD]) for epilepsy for 12 weeks prior to screening and at the time of enrolment, with the exception of age/weight-based or blood level (toxicity) dose adjustments.

  • Stable concurrent psychotropic medications for 4 weeks prior to screening and at time of enrolment.

  • Complies with the requirements regarding contraception and is confirmed by caregiver consent.

Exclusion Criteria:

  • Molecular diagnosis of AS with genotypic classification of:

    • Uniparental paternal disomy (UPD) of 15q11-q13,
    • Imprinting center defect (ICD) within 15q11-q13,
    • A partial molecular diagnosis of AS, that cannot exclude UPD or ICD despite appropriate genetic testing.

  • Clinically significant vital signs or laboratory abnormalities during screening, including:

    o Abnormal coagulation profile demonstrated by platelet count at or below lower limit of normal (140 × 109/L), or by abnormal international normalized ratio (INR) and/or prothrombin time (PT), or activated partial thromboplastin time (aPTT).

  • Presence of clinically relevant electrocardiogram (ECG) abnormalities prior to dosing such as QT interval corrected for heart rate using Fredericia's formula (QTcF) > 460 ms, personal or family history of congenital long QT syndrome indicating safety risk in the Investigator's opinion. First-degree atrioventricular block or isolated right bundle branch block is allowed.

  • Clinically relevant disease or condition, including hematological, hepatic, cardiac or renal disease or abnormality, that would, in the judgement of the Investigator, pose an unacceptable risk to the participant or interfere with the conduct of the study

  • Any concomitant condition that might interfere with the clinical evaluation of AS and that is not related to AS.

  • Known history of human immunodeficiency virus (HIV), hepatitis B, C, or E virus.

  • Any condition that increases the risk of meningitis.

  • History of bleeding diathesis or coagulopathy.

  • Medical history of brain or spinal disease that would interfere with the LP process, CSF circulation or safety assessment, including:

    • Tumors or abnormalities detected by magnetic resonance imaging (MRI) or computed tomography (CT),
    • Subarachnoid hemorrhage,
    • Clinical suggestion of raised intracranial pressure confirmed by MRI or ophthalmic examination,
    • Spinal stenosis or curvature (considered sufficient to prohibit LP),
    • Chiari malformation,
    • Hydrocephalus,
    • Syringomyelia,
    • Tethered spinal cord syndrome and connective tissue disorders such as Ehlers-Danos syndrome and Marfan syndrome,
    • Radiculopathy or radiculitis.

  • Ventriculoperitoneal (VP) shunt for the drainage of CSF or an implanted CNS catheter.

  • Medical history of brain or spinal injury, of traumatic, hemorrhagic, or any other origin, that may result in symptoms interfering with AS.

  • History of clinically significant post LP headache of moderate or severe intensity and/or blood patch that would, in the judgement of the Investigator, pose an unacceptable risk to the participant or interfere with the conduct of the study.

  • Malignancy within 5 years of screening.

  • Hospitalization for any major medical or surgical procedure involving general anesthesia planned during the study, or within 4 weeks prior to screening, that - in the opinion of the Investigator - may pose a risk to the participant.

  • Prohibited use of antiplatelet or anticoagulant therapy for 2 weeks prior to screening and at the time of enrolment.

  • Have any other conditions which would make the participant unsuitable for inclusion or could interfere with the participant participating in or completing the study, including any contraindication to administration of IT therapy.

  • Extremely or very preterm birth complications which, in the opinion of the Investigator, may interfere with study outcomes.

  • Birth complications, confirmed or suspected asphyxia before, during, or after birth.

  • Ascertained or presumptive hypersensitivity to the investigational medicinal product (IMP) or its excipients.

  • Participated in a clinical trial and received an IMP within 90 days or 5 half-lives (whichever is longer) or tested an investigational medical device within 90 days prior to dosing or if the device is still active.

  • Concurrent or planned concurrent participation in any clinical study (including observational, non-drug and non-interventional studies) without a signed data sharing agreement in place between the other clinical study and the Sponsor.

  • Previous participation in cellular therapy, gene therapy, gene editing, or any other gene expression modulating clinical trial, such as an ASO treatment.

Studieplan

Det här avsnittet ger detaljer om studieplanen, inklusive hur studien är utformad och vad studien mäter.

Hur är studien utformad?

Designdetaljer

  • Primärt syfte: Behandling
  • Tilldelning: Randomiserad
  • Interventionsmodell: Parallellt uppdrag
  • Maskning: Fyrdubbla

Vapen och interventioner

Deltagargrupp / Arm
Intervention / Behandling
Experimentell: rugonersen

Study Drug
Läkemedel: rugonersen

Study Drug
Sham Comparator: Sham

Sham Procedure
Procedur: Sham procedure

Sham Procedure

Vad mäter studien?

Primära resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
Change from baseline in the Bayley-4 cognition and/or expressive communication raw scores without caregiver input at Week 56.
Tidsram: Baseline to week 56

The Bayley-4 is a performance-based assessment of developmental functioning of five core battery scales: cognitive, language (two subtests: expressive and receptive communication), motor (two subtests: gross and fine motor), social-emotional, and adaptive behavior. Change from baseline in the raw scores of the cognition and/or expressive communication scales of the Bayley-4, without caregiver input, higher change reflects a better outcome of the core scales.
Baseline to week 56

Sekundära resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
Symptoms of Angelman Syndrome - Clinician Global Impression of Change (SAS-CGI-C) overall at Week 56.
Tidsram: Week 56

The SAS-CGI-C is a Symptoms of Angelman Syndrome - Clinician Global Impression of Change that has been developed for Angelman Syndrome. The SAS-CGI-C is a nine domain, clinician-rated measure, which assesses the clinician's impression of the severity of a participant's condition ranging from "very much improved" (1) to "very much worse" (7).
Week 56
Change from baseline in electroencephalogram (EEG) delta-band power at Week 56.
Tidsram: Week 56

Change from baseline in electroencephalogram (EEG) delta-band power at Week 56.
Week 56
Incidence of serious adverse events (SAEs).
Tidsram: Week 60

Incidence of serious adverse events (SAEs).
Week 60

Samarbetspartners och utredare

Det är här du hittar personer och organisationer som är involverade i denna studie.

Sponsor

OHB Pediatrics Ltd.

Samarbetspartners

Medpace, Inc.

Utredare

  • Studierektor: Brenda Vincenzi, MD, OHB Pediatrics Ltd.

Studieavstämningsdatum

Dessa datum spårar framstegen för inlämningar av studieposter och sammanfattande resultat till ClinicalTrials.gov. Studieposter och rapporterade resultat granskas av National Library of Medicine (NLM) för att säkerställa att de uppfyller specifika kvalitetskontrollstandarder innan de publiceras på den offentliga webbplatsen.

Studera stora datum

Studiestart (Faktisk)

23 juni 2026

Primärt slutförande (Beräknad)

1 mars 2029

Avslutad studie (Beräknad)

1 mars 2031

Studieregistreringsdatum

Först inskickad

15 maj 2026

Först inskickad som uppfyllde QC-kriterierna

18 maj 2026

Första postat (Faktisk)

26 maj 2026

Uppdateringar av studier

Senaste uppdatering publicerad (Faktisk)

6 november 2026

Senaste inskickade uppdateringen som uppfyllde QC-kriterierna

5 november 2026

Senast verifierad

1 november 2026

Mer information

Termer relaterade till denna studie

Ytterligare relevanta MeSH-villkor

Andra studie-ID-nummer

  • OHB-724-301

Plan för individuella deltagardata (IPD)

Planerar du att dela individuella deltagardata (IPD)?

NEJ

Läkemedels- och apparatinformation, studiedokument

Studerar en amerikansk FDA-reglerad läkemedelsprodukt

Ja

Studerar en amerikansk FDA-reglerad produktprodukt

Nej

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