GTX-102 for Angelman Syndrome

Recruiting 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

75 Participants Needed

Trial Summary

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.

How is the drug GTX-102 unique in treating Angelman Syndrome?

GTX-102 is unique because it targets the underlying genetic cause of Angelman Syndrome by aiming to restore the function of the UBE3A gene, which is typically inactive in patients with this condition. This approach is different from other treatments that mainly address symptoms rather than the genetic root of the disorder. ^{1 2 3 4 5}

What is the purpose of this trial?

The primary objective of the study is to evaluate the long-term safety profile of GTX-102 in participants with Angelman Syndrome (AS)

Research Team

Medical Director

Principal Investigator

Ultragenyx Pharmaceuticals Inc.

Eligibility Criteria

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

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

Treatment Details

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.

Participant Groups

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

References

1. United States pubmed.ncbi.nlm.nih.gov

Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. [2022]

2. Mexico pubmed.ncbi.nlm.nih.gov

[Angelman's syndrome (happy puppet) in 2 siblings. A follow-up over 10 years]. [2006]

3. Iran pubmed.ncbi.nlm.nih.gov

Angelman Syndrome: A Case Report. [2023]

4. England pubmed.ncbi.nlm.nih.gov

Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect. [2019]

5. China pubmed.ncbi.nlm.nih.gov

[Prenatal diagnosis for a women with a suspected birth history of Angelman syndrome]. [2015]