Active not recruitingPHASE3INTERVENTIONAL

Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS)

This important study is investigating a new medication, GTX-102, for children and young people aged 4 to 17 who have Angelman Syndrome. Angelman Syndrome is a complex genetic condition that affects development, and this study specifically focuses on a common type where a gene called UBE3A is missing. The main aim is to see if GTX-102 can improve cognitive function, which means how well a person thinks, learns, and remembers. Researchers will compare GTX-102 to a 'sham' treatment to understand its true effects. This is a Phase 3 study, which means it’s one of the final steps before a new medicine might become widely available.

At a glance

Status

Active not recruiting

Phase

PHASE3

Sponsor

Ultragenyx Pharmaceutical Inc

Enrolment target

129

Start

03 Dec 2024

Estimated completion

01 Nov 2027

Angelman Syndrome

What is this study about?

Angelman Syndrome is a rare genetic condition that can affect a child's development, leading to challenges with movement, speech, and learning. This study, called a clinical trial, is focusing on a new medicine named GTX-102. The main goal is to find out if GTX-102 can help improve how children, aged 4 to 17, think and understand, especially those with a specific genetic cause of Angelman Syndrome where a part of their DNA is missing.

To understand if GTX-102 really works, some children will receive the actual medicine, while others will get what's called a 'sham' treatment. A sham treatment is like a dummy treatment that looks similar to the real medicine but doesn't contain any active drug. This helps the researchers compare the effects accurately. This is a common and important way to test new medicines safely and fairly.

The study is in 'Phase 3,' which means it's a large and advanced stage of testing. If the results show that GTX-102 is safe and effective, it could potentially become a new treatment option for Angelman Syndrome in the future. The researchers want to learn if this medicine can make a positive difference in the daily lives of children with the condition.

Key takeaways

This study is testing a new medicine called GTX-102 for children with Angelman Syndrome.
The main goal is to see if GTX-102 can improve thinking and learning abilities.
It's open to children aged 4 to 17 with a specific genetic cause of Angelman Syndrome.
Participation involves regular clinic visits, medical procedures (like blood tests, MRI, and lumbar puncture), and receiving the study medicine or a sham treatment.
This is a 'Phase 3' study, meaning it's a key step towards potentially making the medicine widely available.
Your child's safety and well-being are a top priority, and you can withdraw from the study at any time.

Who may be eligible?

To join this study, children must be between 4 and 17 years old and have a clear diagnosis of Angelman Syndrome, confirmed by a genetic test showing that a specific gene, UBE3A, is missing. They need to be able to walk by themselves or with some help; children who mainly use a wheelchair cannot take part.

Parents or legal guardians must agree to their child being in the study and follow all the instructions, including visits, blood tests, and certain medical procedures like a lumbar puncture (a 'spinal tap') and MRI scans. It’s also important that there haven't been recent changes to medications or special diets for Angelman Syndrome in the month before starting.

Some children might not be able to join. For example, if they have conditions that make a lumbar puncture risky, or if they are taking certain blood-thinning medicines. Also, if they have known allergies to the study medicine or other serious health problems that the study doctor believes would make it unsafe for them to participate.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Is your child between 4 and 17 years old?
Does your child have a confirmed diagnosis of Angelman Syndrome due to a missing UBE3A gene?
Can your child walk by themselves or with some help?
Are you able to commit to regular hospital visits and study procedures, including MRI and lumbar puncture?
Has your child not had any recent changes (within the last month) to their Angelman Syndrome medications or special diets (excluding weight adjustments)?
Does your child have any medical conditions, like severe bleeding risks or serious infections, that might make joining unsafe?

Answer every question to see your result.

What does participation involve?

If your child takes part, you or their legal guardian will first sign a form agreeing to their participation. The study involves regular visits to the clinic, where doctors will check your child's health and carry out assessments to understand how the medicine is working. Your child will receive either the study medicine, GTX-102, or a sham treatment, which will be given in a special way (often into the fluid around the spinal cord).

There will be various tests, including blood tests, MRI scans (which look at the brain), and a procedure called a lumbar puncture (where a small amount of fluid is taken from around the spinal cord). Your child will also need to be able to have these procedures done, sometimes with a mild form of anaesthesia that doesn't involve a tube being put down their throat. This study will involve a commitment to scheduled appointments and following the study plan for a period of time, with follow-up appointments continuing for at least 6 months after the last dose of medicine.

Potential risks and benefits

Taking part in this study could potentially offer your child access to a new medicine that aims to improve thinking skills in Angelman Syndrome before it's widely available. However, there are also possible risks, as with any medical treatment. These could include side effects from the medicine itself or discomfort from the various tests and procedures, like blood draws or the lumbar puncture. You will be given full information about these potential risks and benefits before deciding to take part. Remember, you have the right to withdraw your child from the study at any time, for any reason, without it affecting their future medical care.

Locations (28)

Cedars Sinai
Verified postcode
Los Angeles, United States
UCSD, Rady Children's Hospital
Verified postcode
San Diego, United States
UCSF
Verified postcode
San Francisco, United States
Children's Hospital Colorado
Verified postcode
Aurora, United States
Nicklaus Children's Hospital
Verified postcode
Miami, United States
Rare Disease Research
Verified postcode
Atlanta, United States
Rush University
Verified postcode
Chicago, United States
Boston Children's Hospital
Verified postcode
Boston, United States
Children's Mercy
Verified postcode
Kansas City, United States
Columbia University Medical Center
Verified postcode
New York, United States
UNC Chapel Hill Pediatrics
Verified postcode
Chapel Hill, United States
Rare Disease Research
Verified postcode
Hillsborough, United States

Common questions

What is a 'sham' treatment?

A sham treatment is like a dummy treatment that looks the same as the real medicine but doesn't contain any active drug. It helps researchers accurately compare the effects of the actual medicine.

What is a lumbar puncture?

A lumbar puncture is a medical procedure where a small needle is used to collect a sample of fluid from around the spinal cord. It helps doctors gather important information for the study.

How long will the study last for my child?

The study involves regular appointments and medicine administration, with follow-up appointments continuing for at least 6 months after your child's final dose of the study medicine.

Will we know if our child is getting the real medicine or the sham treatment?

Usually, in studies like this, neither you nor the study team will know who is receiving the actual medicine and who is receiving the sham treatment. This helps ensure the results are unbiased.

Can my child take other medicines for Angelman Syndrome during the study?

It's generally required that there have been no recent changes to other Angelman Syndrome medications, diets, or supplements in the month before starting the study. Any ongoing medications will be discussed with the study doctor.