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A Study to Investigate the Safety, Tolerability, Pharmacokinetics (PK) and Pharmacodynamics (PD) of RO7248824 in Participants With Angelman Syndrome (AS) | Clinical Trials | Clareo Health

COMPLETEDPHASE1

A Study to Investigate the Safety, Tolerability, Pharmacokinetics (PK) and Pharmacodynamics (PD) of RO7248824 in Participants With Angelman Syndrome (AS)

An Open-label, Multicenter Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RO7248824 in Participants With Angelman Syndrome

NCT04428281•Hoffmann-La Roche

View on ClinicalTrials.gov

Summary

This is a phase I, multicenter, non-randomized, adaptive, open-label, multiple ascending, intra-participant, dose-escalation study with a long-term extension (LTE) part and an optional open-label extension (OOE) part. The objective of the study is to investigate the safety, tolerability, PK and PD of RO7248824 administered intrathecally (IT) in participants with AS. Two linked sets of dose escalation cohorts are planned based on two different age groups, namely participants with AS aged ≥ 5 to ≤ 12 years in cohorts A1 to A5 (with at least 2 participants ≤ 8 years old in each cohort) and AS participants aged ≥ 1 to ≤ 4 years in cohorts B1 to B5. The two sets of cohorts will be run in parallel, with each cohort A1 to A5 preceding and gating the linked cohort B1 to B5 (e.g., A1 precedes B1).

Eligibility

Age

1 - 12 years

Sex

ALL

Healthy Volunteers

Inclusion Criteria

•The participant has a parent, caregiver or legal representative (hereinafter "caregiver") who is reliable, competent and at least 18 years of age. The caregiver is willing and able to accompany the participant to clinic visits and to be available to the Investigational Site by phone or email if needed and who (in the opinion of the Investigator) is and will remain sufficiently knowledgeable of participant's ongoing condition to respond to any inquiries about the participant from personnel from the Study Site.
•A caregiver must be able to consent for the participant according to International Council on Harmonisation (ICH) and local regulations.
•Ability to comply with all study requirements.
•Have adequate supportive psychosocial circumstances.
•Able to tolerate blood draws.
•Able to undergo lumbar puncture (LP) and IT injection, under sedation or anesthesia if needed and as determined appropriate by the Investigator.
•Stable medical status for at least 4 weeks prior to Screening and at the time of enrollment.
•Body weight of ≥ 7 kg
•Participant must be ≥ 1 to ≤ 12 years of age at the time of signing of the informed consent by the caregiver.
•Clinical diagnosis of AS confirmed by a molecular diagnosis with genotypic classification of either Ubiquitin-protein ligase E3A (UBE3A) mutation of the maternal allele or deletion on the maternally inherited chromosome 15q11q13 that includes the UBE3A gene and is less than 7 megabyte (Mb) in size.
+11 more criteria

Exclusion Criteria

•Diagnostic Assessments
•Clinically-significant laboratory, vital sign or electrocardiography (ECG) abnormalities at Screening
•Type of Participants and Disease Characteristics
•Molecular diagnosis of AS with genotypic classification: Paternal Uniparental Disomy (UPD) of 15q11-13; UBE3A Imprinting center defect (ID); A partial molecular diagnosis of AS, that cannot exclude (UPD)or ID despite appropriate genetic testing.
•Clinically relevant hematological, hepatic, cardiac or renal disease or event, in the judgement of the Investigator.
•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) or hepatitis B virus (HBV) or hepatitis C virus (HCV).
•Any condition that increases risk of meningitis.
•History of bleeding diathesis or coagulopathy.
•A medical history of brain or spinal disease that would interfere with the LP process, CSF circulation or safety assessment
+14 more criteria

Locations (12)

UCLA Neuropsychiatric Institute

Los Angeles, California, United States

Rady Children's Hospital - San Diego

San Diego, California, United States

Rush Medical Center

Chicago, Illinois, United States

Mayo Clinic - Rochester

Rochester, Minnesota, United States

Columbia University Medical Center

New York, New York, United States

Carolina Institute for Development DisabilitiesUniversity of North Carolina/School of Medicine

Carrboro, North Carolina, United States

Baylor College of Med

Houston, Texas, United States

Ospedale Pediatrico Bambino Gesù

Rome, Lazio, Italy

Erasmus MC / location Sophia Kinderziekenhuis

Rotterdam, Netherlands

Hospital Sant Joan De Deu

Esplugues de Llobregas, Barcelona, Spain

Key Dates

Start Date

August 19, 2020

Primary Completion Date

July 31, 2025

Completion Date

July 31, 2025

Last Updated

August 24, 2025

Enrollment

ACTUAL participants

Conditions

Angelman Syndrome

Interventions

RO7248824

DRUG

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COMPLETEDPHASE2

A Study to Investigate the Pharmacokinetics (PK) and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype.

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Angelman Syndrome

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COMPLETEDPHASE2

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Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: August 24, 2025Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

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A Study to Investigate the Safety, Tolerability, Pharmacokinetics (PK) and Pharmacodynamics (PD) of RO7248824 in Participants With Angelman Syndrome (AS)

Inclusion Criteria

Exclusion Criteria

A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome

A Study to Investigate the Pharmacokinetics (PK) and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype.

A Study in Adults and Adolescents With Angelman Syndrome (STARS)

Angelman Syndrome Natural History Study-FAST UK

A Study of OV101 in Individuals With Angelman Syndrome (AS)

Study on the Brain Network of Angelman Syndrome