RO7248824 for Angelman Syndrome

No longer recruiting at 19 trial locations
RS
RS
Overseen ByReference Study ID Number: BP41674 https://forpatients.roche.com/
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests an experimental treatment called RO7248824 for Angelman Syndrome, a genetic disorder affecting the nervous system. Researchers aim to assess the safety and tolerability of this treatment and understand its behavior in the body. Participants will receive the treatment through an intrathecal injection (into the spine). The trial includes different age-based groups, specifically targeting children aged 1 to 12 years with a confirmed diagnosis of Angelman Syndrome. Those with stable medical status who can undergo procedures like blood draws and lumbar punctures (spinal taps) may be suitable candidates for this trial. As a Phase 1 trial, the study focuses on understanding how the treatment works in people, offering participants the opportunity to be among the first to receive this new treatment.

Will I have to stop taking my current medications?

The trial requires that certain medications be stable for a period before joining. Sleep medications must be stable for 4 weeks, epilepsy medications for 12 weeks, and psychotropic medications for 4 weeks before screening. Antiplatelet or anticoagulant therapy should not be used for 2 weeks prior to screening.

Is there any evidence suggesting that RO7248824 is likely to be safe for humans?

Research has shown that early safety results for RO7248824, a treatment for Angelman Syndrome, are acceptable. Studies have found that children tolerate this drug well when administered directly into the spinal fluid. Although specific side effects remain limited, no major safety issues have been reported so far. The study is still in an early phase, so researchers are still gathering initial safety data. For those considering joining a trial, this indicates some evidence of general safety, but further research is needed for confirmation.12345

Why do researchers think this study treatment might be promising for Angelman Syndrome?

Researchers are excited about RO7248824 for Angelman Syndrome because it offers a novel approach compared to traditional therapies, which often focus on managing symptoms with medications like anticonvulsants and behavioral therapies. RO7248824 works by targeting the root cause of Angelman Syndrome, potentially addressing the underlying genetic issues rather than just alleviating symptoms. This treatment utilizes a unique mechanism of action, which could lead to more effective and long-lasting improvements, offering hope for significant advancements in managing this condition.

What evidence suggests that RO7248824 might be an effective treatment for Angelman Syndrome?

Researchers are investigating RO7248824 as a potential treatment for Angelman syndrome due to its focused method. This treatment delivers small pieces of genetic material, called antisense oligonucleotides (ASOs), directly into the spinal fluid to help adjust gene function. The goal is to address the genetic issues causing Angelman syndrome and potentially improve symptoms. Earlier studies have shown that targeting the specific gene can have positive effects, prompting further exploration of this approach. Data collection on its effectiveness in people is ongoing, making participation in trials crucial for understanding its potential. Participants in this trial will receive RO7248824 in various cohorts to evaluate its effectiveness and safety across different age groups.12367

Who Is on the Research Team?

CT

Clinical Trials

Principal Investigator

Hoffmann-La Roche

Are You a Good Fit for This Trial?

This trial is for children with Angelman Syndrome (AS) aged 1 to 12 years who can undergo procedures under sedation or anesthesia. They must have a confirmed clinical diagnosis of AS, be able to tolerate blood draws, and have a caregiver willing to comply with study requirements. Participants should not be pregnant or breastfeeding and must meet certain contraceptive requirements.

Inclusion Criteria

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
I can have procedures under sedation as needed.
See 9 more

Exclusion Criteria

Conditions that would make the participant unsuitable for inclusion or could interfere with the study
I haven't been hospitalized for a major procedure under general anesthesia in the last 3 months.
Concurrent or planned participation in other clinical studies without a signed data sharing agreement
See 13 more

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Multiple ascending dose (MAD) phase where participants receive RO7248824 intrathecally

52 weeks

Long-term extension (LTE)

Participants continue to receive RO7248824 to assess long-term safety and efficacy

156 weeks

Open-label extension (OOE)

Participants in the LTE part of the study will be given the opportunity to participate in the OOE part

60 weeks

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

  • RO7248824
Trial Overview The trial tests the safety and effects of RO7248824 in children with AS. It's an open-label study where doses increase within participants based on age groups: ≥5 to ≤12 years for one set of cohorts, and ≥1 to ≤4 years for another. Each older cohort precedes a younger one, ensuring safety before advancing.
How Is the Trial Designed?
19Treatment groups
Experimental Treatment
Group I: OOE: RO7248824Experimental Treatment1 Intervention
Group II: LTE: Cohort EB4 RO7248824Experimental Treatment1 Intervention
Group III: LTE: Cohort EB3 RO7248824Experimental Treatment1 Intervention
Group IV: LTE: Cohort EB2 RO7248824Experimental Treatment1 Intervention
Group V: LTE: Cohort EB1 RO7248824Experimental Treatment1 Intervention
Group VI: LTE: Cohort EA4 RO7248824Experimental Treatment1 Intervention
Group VII: LTE: Cohort EA3 RO7248824Experimental Treatment1 Intervention
Group VIII: LTE: Cohort EA2 RO7248824Experimental Treatment1 Intervention
Group IX: LTE: Cohort EA1 RO7248824Experimental Treatment1 Intervention
Group X: Cohort B5 RO7248824Experimental Treatment1 Intervention
Group XI: Cohort B4 RO7248824Experimental Treatment1 Intervention
Group XII: Cohort B3 RO7248824Experimental Treatment1 Intervention
Group XIII: Cohort B2 RO7248824Experimental Treatment1 Intervention
Group XIV: Cohort B1 RO7248824Experimental Treatment1 Intervention
Group XV: Cohort A5 RO7248824Experimental Treatment1 Intervention
Group XVI: Cohort A4 RO7248824Experimental Treatment1 Intervention
Group XVII: Cohort A3 RO7248824Experimental Treatment1 Intervention
Group XVIII: Cohort A2 RO7248824Experimental Treatment1 Intervention
Group XIX: Cohort A1 RO7248824Experimental Treatment1 Intervention

Find a Clinic Near You

Who Is Running the Clinical Trial?

Hoffmann-La Roche

Lead Sponsor

Trials
2,482
Recruited
1,107,000+
Headquarters
Basel, Switzerland
Known For
Precision medicine
Top Products
Avastin, Herceptin, Rituxan, Accu-Chek
Dr. Levi Garraway profile image

Dr. Levi Garraway

Hoffmann-La Roche

Chief Medical Officer since 2019

MD from the University of Basel

Dr. Thomas Schinecker profile image

Dr. Thomas Schinecker

Hoffmann-La Roche

Chief Executive Officer since 2023

PhD in Molecular Biology from New York University

Citations

NCT04428281 | A Study to Investigate the Safety, ...The objective of the study is to investigate the safety, tolerability, PK and PD of RO7248824 administered intrathecally (IT) in participants with AS.
Roche's Rugonersen Trials: Angelman Syndrome UpdateRoche has halted new trials of rugonersen (RO7248824) in Angelman syndrome. Read more about this development and its implications for Angelman syndrome.
Clinical Trial – Angelman Syndrome – Safety, Pharmacokine...Access the clinical trial testing the safety, tolerability, pharmacokinetics and pharmacodynamics of RO7248824 in children with Angelman Syndrome.
A Study To Assess Distribution Of RO7248824 In The Central ...The aim of Study BP41660 is to quantify the amount and concentration of [89Zr]DFO-. RO7248824 in the brain with positron emission tomography (PET) following a ...
ASO therapy for Angelman syndrome advances to Phase III ...The results published in Nature Medicine suggest that this approach may be effective as a treatment for Angelman syndrome. The drug was well ...
6.pubmed.ncbi.nlm.nih.govpubmed.ncbi.nlm.nih.gov/40646322/
The UBE3A-ATS antisense oligonucleotide rugonersen in ...Rugonersen (RO7248824) is an antisense oligonucleotide that reinstates UBE3A by derepressing the silenced paternal allele.
Investigation the Safety, Tolerability, Pharmacokinetics and ...Investigation the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RO7248824 in Participants with Angelman Syndrome. Phase 1.
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