GTX-102 for Angelman Syndrome

Enrolling by invitation at 24 trial locations

Overseen By Patients Contact: Trial Recruitment

Age: Any Age

Sex: Any

Trial Phase: Phase 3

Sponsor: Ultragenyx Pharmaceutical Inc

Disqualifiers: Pregnancy, Hypersensitivity to GTX-102, 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: Unknown

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial examines the safety of GTX-102 for individuals with Angelman Syndrome, a genetic disorder affecting the nervous system. Participants will receive the treatment via intrathecal lumbar puncture, which delivers medication directly to the spine. This study is ideal for those who have previously participated in a GTX-102 trial and completed all visits. It represents a crucial step in understanding how GTX-102 can manage Angelman Syndrome symptoms over time. As a Phase 3 trial, it serves as the final step before FDA approval, providing participants an opportunity to contribute to a potentially groundbreaking treatment.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the study team or your doctor.

Is there any evidence suggesting that GTX-102 is likely to be safe for humans?

Research has shown that GTX-102 holds promise for people with Angelman syndrome. In earlier studies, participants generally tolerated GTX-102 well, with no major safety concerns reported. Some participants experienced improvements in areas such as thinking skills.

The treatment led to quick and significant progress, and these improvements continued during the study's maintenance phase. This suggests that GTX-102 might be a safe option for those considering participation. The trial aims to further understand its long-term safety. ^{1 2 3 4 5}

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

GTX-102 is unique for treating Angelman Syndrome because it is administered directly into the spinal fluid via an intrathecal lumbar puncture, allowing for targeted delivery to the central nervous system. This method is different from current treatments, which generally focus on managing symptoms rather than addressing the genetic cause. Researchers are excited because GTX-102 targets the underlying genetic mechanisms of Angelman Syndrome, potentially offering a more effective approach to treatment.

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 will receive, may help treat Angelman Syndrome (AS). In earlier studies, patients who took GTX-102 showed improvements in areas like movement and communication. One study found that GTX-102 was especially helpful for people with the deletion type of AS, improving their thinking skills. Early data also show that the treatment is safe and well-tolerated, making it a hopeful option for managing AS symptoms. Overall, these findings suggest GTX-102 could be effective for people with Angelman Syndrome. ^{1 2 6 7 8}

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 individuals with Angelman Syndrome who have previously participated in a GTX-102 study. They must consent to the trial's terms and agree to use effective contraception. Those pregnant, breastfeeding, or hypersensitive to GTX-102 or its components cannot join.

Inclusion Criteria

I have been in a GTX-102 study and got approval to join this one.

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

I am using or willing to use effective birth control or practice abstinence during and after the study.

Exclusion Criteria

Pregnant, breastfeeding, or planning to become pregnant (self or partner) at any time during the study

Known hypersensitivity to GTX-102 or its excipients that places the subject at increased risk for adverse effects

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive GTX-102 via intrathecal lumbar puncture on a flexible dosing schedule

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

Long-term Extension

The study evaluates the long-term safety and efficacy of GTX-102 in participants with Angelman Syndrome

What Are the Treatments Tested in This Trial?

Interventions

• GTX-102

Trial Overview The study aims to assess the long-term safety of GTX-102 in patients with Angelman Syndrome. Participants are those who've been part of prior GTX-102 research and will continue treatment under careful monitoring.

How Is the Trial Designed?

Group I: GTX-102 Experimental Treatment 1 Intervention

Participants will receive GTX-102 via intrathecal lumbar puncture (IT LP) on a intrapatient flexible dosing schedule.

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. 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 ...

2. ir.ultragenyx.com ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-presents-positive-update-gtx-102-angelman-syndrome

Ultragenyx Presents Positive Update on GTX-102 ... Phase 1/2 data show improvements across all domains and confirm that Phase 3 Aspire study is amply powered to establish efficacy of GTX-102.

3. clinicaltrials.gov clinicaltrials.gov/study/NCT06617429

Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric ... 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).

4. 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 ... "The open-label basket design of the Aurora study will enable us to efficiently evaluate the safety and efficacy of GTX-102 in younger and older ...

5. clinicaltrialsarena.com clinicaltrialsarena.com/news/ultragenyx-doses-first-subject-gtx102/

Ultragenyx doses first subject in study of GTX-102 for ... Ultragenyx Pharmaceutical has dosed the first participant in Aurora, a study evaluating GTX-102 (apazunersen) for angelman syndrome (AS).

6. 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.

7. 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 ...

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

Angelman Syndrome Therapies Show Positive Results in ... ... GTX-102, designed to treat Angelman syndrome, was generally safe and led to rapid and clinically meaningful improvements in cognition ...