GTX-102 for Angelman Syndrome

(Aspire Trial)

Recruiting at 55 trial locations

Overseen By HCPs Contact: Medical Information

Age: < 18

Sex: Any

Trial Phase: Phase 3

Sponsor: Ultragenyx Pharmaceutical Inc

Must not be taking: Anticoagulants, Platelet inhibitors

Disqualifiers: Pregnancy, Cardiovascular, Neurologic, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Pivotal Trial (Near Approval) This treatment is in the last trial phase before FDA approval

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: 8

120 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

The primary objective of this study is to evaluate the effect of GTX-102 in cognitive function in participants with deletion-type Angelman Syndrome (AS).

Will I have to stop taking my current medications?

The trial requires that there be no changes in medications or diet/supplements intended to treat symptoms of Angelman Syndrome within the month before the screening visit. This means you should not stop or change your current medications if they are for treating Angelman Syndrome symptoms.

Who Is on the Research Team?

Medical Director

Principal Investigator

Ultragenyx Pharmaceuticals Inc.

Are You a Good Fit for This Trial?

This trial is for children with Angelman Syndrome who can walk (with or without help) and have a specific genetic deletion. They must be able to handle anesthesia without needing a breathing tube, follow the study plan, and their blood clotting tests should be close to normal. Sexually active participants must use effective birth control.

Inclusion Criteria

Signed informed consent from parent(s) or legal guardian(s)

Platelet count, prothrombin time / international normalized ratio, and partial thromboplastin time within 1.5x the normal limits at the Screening Visit

I have a confirmed diagnosis of Angelman Syndrome with a specific genetic mutation.

Exclusion Criteria

I haven't changed my AS symptom treatment in the last month.

Concurrent participation in any study, including observational natural history studies

Any condition that creates an increased risk of unsuccessful lumbar puncture (LP)

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Double-blind Treatment

Participants receive either GTX-102 or a sham procedure via lumbar puncture

12 weeks

4 visits (in-person)

Open-label Treatment

All participants receive GTX-102 via lumbar puncture

12 weeks

4 visits (in-person)

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• GTX-102
• Sham-LP

Trial Overview The trial is testing GTX-102's ability to improve cognitive function in kids with Angelman Syndrome compared to a fake procedure (Sham-LP). Parents or guardians give consent for participation and agree to follow all procedures including lumbar puncture.

How Is the Trial Designed?

Group I: GTX-102 Experimental Treatment 1 Intervention

Participants will receive GTX-102 via lumbar puncture (LP) during both the double-blind and open-label period

Group II: Sham-LP then GTX-102 Placebo Group 2 Interventions

Participants will receive sham procedure during the double-blind period and then will receive GTX-102 via LP during the open-label period

Who Is Running the Clinical Trial?

Ultragenyx Pharmaceutical Inc

Lead Sponsor

Trials

94

Recruited

104,000+

Dr. Emil D. Kakkis

Ultragenyx Pharmaceutical Inc

Chief Executive Officer since 2010

MD/PhD in Biological Chemistry from UCLA

Dr. Eric Crombez

Ultragenyx Pharmaceutical Inc

Chief Medical Officer since 2023

MD from Wayne State University School of Medicine