GTX-102 for Angelman Syndrome

(Aspire Trial)

Not currently recruiting at 58 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

What You Need to Know Before You Apply

What is the purpose of this trial?

The trial aims to evaluate how well the treatment GTX-102 improves thinking and learning in individuals with a specific form of Angelman Syndrome, a genetic condition affecting brain development. Participants will initially receive either GTX-102 or a sham procedure (a simulated treatment), followed by GTX-102 for all. This study may suit those with a confirmed diagnosis of Angelman Syndrome with a specific genetic deletion who can walk independently or with assistance. As a Phase 3 trial, it represents the final step before FDA approval, offering participants the opportunity to contribute to a potentially groundbreaking treatment.

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.

Is there any evidence suggesting that this trial's treatments are likely to be safe?

Research shows that GTX-102 is generally safe for people with Angelman Syndrome. Earlier studies found that GTX-102 is well-tolerated and helps improve cognitive abilities. Reports from past trials noted quick improvements in several areas, which continued over time. While some side effects might occur, the treatment's safety appears promising based on these findings. It is important to note that this trial is in a late stage, indicating existing evidence of safety in humans. ^{1 2 3 4 5}

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

GTX-102 is unique because it is administered via lumbar puncture, directly targeting the central nervous system, which is crucial for treating neurological conditions like Angelman Syndrome. Unlike standard treatments that mainly address symptoms, GTX-102 may offer a more direct approach by potentially modifying the underlying genetic issues causing the disorder. Researchers are excited about this treatment because it represents a promising shift toward addressing root causes rather than just managing symptoms, which could lead to more significant improvements in patient outcomes.

What evidence suggests that GTX-102 might be an effective treatment for Angelman Syndrome?

Research has shown that GTX-102, which participants in this trial may receive, may help treat Angelman Syndrome (AS). In an earlier study, 97% of participants who received medium and high doses experienced improvements in AS symptoms after three doses over six months. This suggests that GTX-102 might enhance thinking and learning abilities for those with the deletion-type of AS. The treatment is administered through a lumbar puncture, a procedure where the medicine is injected into the lower back. Overall, early results appear promising for those considering this treatment option. ^{1 2 3 5 6}

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

Citations

1.

ir.ultragenyx.com

ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-announces-first-patient-dosed-aurora-study-evaluating

Ultragenyx Announces First Patient Dosed in Aurora Study ...

Ultragenyx Announces First Patient Dosed in Aurora Study Evaluating GTX-102 in Additional Angelman Syndrome Genotypes and Age Groups ; Cohort ...

2.

ir.ultragenyx.com

ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-completes-enrollment-phase-3-aspire-study-evaluating

Ultragenyx Completes Enrollment of Phase 3 Aspire Study ...

Ultragenyx Completes Enrollment of Phase 3 Aspire Study Evaluating GTX-102 for the Treatment of Angelman Syndrome. July 31, 2025. PDF Version.

3.

clinicaltrials.gov

clinicaltrials.gov/study/NCT07157254

NCT07157254 | A Safety and Efficacy Study of GTX-102 in ...

This basket study is designed to evaluate safety and efficacy of GTX-102 in participants with Angelman syndrome across genotypes and age ...

4.

oligotherapeutics.org

oligotherapeutics.org/angelman-syndrome-therapies-show-positive-results-in-early-phase-clinical-trials/

Angelman Syndrome Therapies Show Positive Results in ...

Notably, after three doses and six months, 97% of people in the medium and high dose groups saw an improvement in overall AS symptoms as ...

5.

ir.ultragenyx.com

ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-receives-breakthrough-therapy-designation-gtx-102

Ultragenyx Receives Breakthrough Therapy Designation ...

The Aurora study will evaluate GTX-102 across other Angelman syndrome genotypes and ages and is expected to initiate in the second half of 2025.

6.

angelman.org

angelman.org/news-blog/ultragenyx-announces-positive-interim-phase-1-2-data-from-gtx-102/

Ultragenyx Announces Positive Interim Phase 1/2 Data ...

“The totality of these interim data demonstrates that treatment with GTX-102 resulted in rapid, multi-domain improvements that continued during maintenance ...