GTX-102 for Angelman Syndrome

(Aurora Trial)

Recruiting at 24 trial locations

Overseen By HCPs Contact: Medical Information

Age: < 65

Sex: Any

Trial Phase: Phase 2

Sponsor: Ultragenyx Pharmaceutical Inc

Must not be taking: Sleeping aids, Antiseizure, Heparin, others

Disqualifiers: Pregnancy, Breastfeeding, Gene therapy, others

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

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

Compensation: Varies

Number of Visits: 6

60 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

The trial aims to test the safety and effectiveness of a new drug, GTX-102, for individuals with Angelman syndrome, a genetic disorder affecting the nervous system and causing developmental disabilities and neurological problems. The trial includes several groups, each focusing on different genetic types of Angelman syndrome, with participants receiving the treatment through injections into the spinal fluid. This trial may suit individuals with a confirmed diagnosis of Angelman syndrome who meet specific genetic criteria, such as deletion-type or mutation-type. Participants should be able to manage regular injections and visits to the study site. As a Phase 2 trial, the research focuses on measuring the treatment's effectiveness in an initial, smaller group of people.

Do I have to stop taking my current medications for the trial?

The trial requires that you do not change any medications or diet/supplements intended to treat symptoms of Angelman Syndrome within the month before the screening visit. If you are taking medications that increase the risk of bleeding, you may not be eligible to participate.

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

Studies have shown that GTX-102 is generally safe for patients. Previous research found that most patients handled the treatment well, with no major safety issues. In earlier studies, patients received increasing doses of GTX-102 through spinal injection, allowing the medicine to reach the brain quickly. Even with this method, the treatment did not cause serious side effects.

GTX-102 has received Breakthrough Therapy Designation from the FDA. This special status is for treatments that show promise in early research, particularly for serious conditions like Angelman syndrome. While this designation does not guarantee safety, it indicates potential benefits based on the safety and effectiveness observed so far. ^{1 2 3 4 5}

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

Unlike the standard treatments for Angelman syndrome, which include therapies like behavioral interventions and medications for seizures, GTX-102 offers a novel approach. This investigational drug is administered directly into the spinal fluid via intrathecal injection, allowing it to potentially target the neurological symptoms more effectively. Researchers are excited because GTX-102 specifically aims to increase the expression of the UBE3A gene, which is typically inactive in individuals with Angelman syndrome. This targeted mechanism of action could lead to significant improvements in cognitive and motor functions, offering hope for more comprehensive management of the condition.

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

Research has shown that GTX-102 yields promising results for people with Angelman syndrome. In earlier studies, 97% of participants who received medium and high doses experienced symptom improvements after six months. This trial will evaluate GTX-102 across various subprotocols, each tailored to different genetic types of Angelman syndrome. Participants will receive increasing doses of GTX-102 via intrathecal injection every three months. These early results offer hope for better managing the challenges of the syndrome. ^{2 3 6 7 8}

Who Is on the Research Team?

Medical Director

Principal Investigator

Ultragenyx Pharmaceutical Inc

Are You a Good Fit for This Trial?

This trial is for individuals with Angelman Syndrome (AS). It includes children aged 1-4 with deletion-type AS, kids and young adults aged 4-18 with UPD/ICD or mutation-type AS, and adults up to age 65. Participants must weigh at least 8 kg, be able to undergo certain medical procedures without intubation, and use effective contraception if of childbearing potential.

Inclusion Criteria

My parent or guardian has agreed to the treatment.

My blood clotting tests are within normal limits.

My child is between 1 and 4 years old and has a genetic diagnosis of deletion-type Angelman Syndrome.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Loading

Participants receive increasing doses of GTX-102 via intrathecal injection until the target dose is achieved

Varies until target dose is achieved

Dosing occurs every 3 months thereafter

Maintenance

Participants continue to receive GTX-102 at the target dose every 3 months

Ongoing

Dosing occurs every 3 months

Follow-up

Participants are monitored for safety and effectiveness after treatment

Approximately 48 weeks

Long-term extension (optional)

Participants may opt into continuation of treatment long-term

Long-term

What Are the Treatments Tested in This Trial?

Interventions

• GTX-102

Trial Overview The study tests the safety and effectiveness of GTX-102 in treating Angelman Syndrome. There are different subprotocols based on age and genetic type of AS. The comparison is between those receiving GTX-102 versus no intervention.

How Is the Trial Designed?

Group I: Subprotocol D No Intervention then GTX-102 Experimental Treatment 2 Interventions

Participants with mutation-type Angelman syndrome, ≥4 to \<18 years of age will receive no treatment during the initial period. At the end of the no treatment period, participants will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.

Group II: Subprotocol D GTX-102 Experimental Treatment 1 Intervention

Participants with mutation-type Angelman syndrome, ≥4 to \<18 years of age will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.

Group III: Subprotocol C GTX-102 Experimental Treatment 1 Intervention

Participants with all genotypes of Angelman syndrome, ≥18 to \<65 years of age will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.

Group IV: Subprotocol B GTX-102 Experimental Treatment 1 Intervention

Participants with paternal uniparental disomy (UPD)/imprinting center defect (ICD) Angelman syndrome, ≥4 to \<18 years of age will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.

Group V: Subprotocol A GTX-102 Experimental Treatment 1 Intervention

Participants with deletion-type Angelman syndrome, ≥1 to \<4 years of age will receive increasing doses of GTX-102 via intrathecal (IT) injection until the target dose is achieved. Dosing occurs every 3 months (Q3M) thereafter.

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-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.

2. 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 ...

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 groups ...

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. 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-announces-positive-interim-phase-12-data-patients

Ultragenyx Announces Positive Interim Phase 1/2 Data in ... The Phase 1/2, open-label, multiple-dose, dose-escalating study is evaluating the safety and tolerability of GTX-102 administered by intrathecal ...

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

Ultragenyx Receives Breakthrough Therapy Designation ... It has received Breakthrough Therapy Designation from the US Food and Drug Administration (FDA) for GTX-102 (apazunersen) as a treatment for Angelman syndrome.

8. 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 ... GTX-102 demonstrated a consistent and acceptable safety profile as of the data cutoff. The latest Ultragenyx corporate deck with these data ...