RecruitingPHASE2INTERVENTIONAL

EPIK-P4: A Phase II Single-arm Study to Assess the Efficacy, Safety and Pharmacokinetics of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (PROS)

This research study, called EPIK-P4, is testing a medicine named alpelisib for people with a condition called PIK3CA-related Overgrowth Spectrum (PROS). PROS causes certain body parts, like limbs or organs, to grow more than they should. The study wants to see how well alpelisib helps with this overgrowth, if it's safe to use, and how the body handles the medicine. It includes both adults and children aged two and older. Participants will take alpelisib daily, and doctors will carefully monitor their progress and any side effects over several years. This is a "Phase II" study, meaning it's an important step in understanding if this new treatment could help people with PROS.

At a glance

Status

Recruiting

Phase

PHASE2

Sponsor

Novartis Pharmaceuticals

Enrolment target

104

Start

09 Oct 2025

Estimated completion

30 Sep 2030

What is this study about?

This study is particularly interested in a condition known as PIK3CA-related Overgrowth Spectrum, or PROS for short. This condition happens when there's a specific change (a 'mutation') in a gene called PIK3CA. This change can cause certain parts of the body to grow more than they should, leading to various health challenges. Living with PROS can sometimes be difficult, and doctors are always looking for better ways to manage the symptoms and improve quality of life for those affected.

The main goal of this study is to see if a medicine called alpelisib can help people with PROS. Researchers want to understand if taking this medicine can slow down or stop the unusual growth caused by PROS. They will also be looking very closely at whether the medicine is safe and how your body reacts to it. If alpelisib proves to be effective and safe, it could offer a new treatment option for people living with this condition.

This is a 'Phase II' study, which means it's an important step in testing new medicines. It's not a first-time test, but it's not yet available to everyone. By taking part, you'd be helping doctors learn more crucial information about PROS and potential treatments, which could benefit many others in the future.

Key takeaways

This study is testing a new medicine, alpelisib, for people with PROS.
It aims to see how well alpelisib works and if it's safe for both children (aged 2+) and adults.
Regular health checks and MRI scans will be part of the study to monitor progress.
Participation involves taking daily medication and attending regular appointments for several years.
You can stop participating at any time if you wish.

Who may be eligible?

To join this study, you need to be at least 2 years old. You must have a clear diagnosis of PROS that is causing noticeable symptoms and getting worse over time. Doctors will also need to find a specific genetic change, called a PIK3CA mutation, in your body.

There are some reasons why you might not be able to join. For example, if your only PROS-related issues are things like an isolated large finger or toe, a skin birthmark (epidermal nevus), or a generally large head (macrocephaly) without other PROS symptoms, you wouldn't be eligible. Also, if you've recently had major surgery or radiation treatment for PROS, or if you've already had a similar medicine called a PI3K inhibitor (unless it was a very short, unsuccessful trial), you wouldn't be able to take part.

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.

Are you at least 2 years old?
Do you have a diagnosis of PROS with symptoms that are getting worse?
Has a doctor confirmed a specific genetic change called a PIK3CA mutation in your body?
Have you not had a similar medicine recently (called a PI3K inhibitor)?

Answer every question to see your result.

What does participation involve?

If you decide to join this study, you'll first have a 'screening' period that could last up to 6 weeks. During this time, doctors will do tests, including a full body MRI scan, to see if the study is right for you and to check your PROS. If you're eligible, you'll then start taking the study medicine, alpelisib, by mouth every day.

For adults (Group 1), the dose will be 250mg once a day. For children and teenagers (Group 2), the dose will vary depending on age: 50mg once daily for those aged 2 to under 6 years, and 125mg once daily for those aged 6 to under 18 years.

The initial treatment period (called the 'core period') will last for about 48 weeks (just under a year). After this, if the medicine is helping and you're tolerating it well, you could continue onto an 'extension' period for up to another two years. Your doctors will regularly check how you're doing, assess the effects of the medicine, and monitor for any side effects throughout your participation. You'll have regular visits, and they will want to continue checking how the medicine is working and how you are feeling for a long time.

Potential risks and benefits

Taking part in any medical study has potential benefits and potential risks. A potential benefit of joining this study is that alpelisib might help reduce the overgrowth and symptoms associated with your PROS, potentially improving your daily life. However, this medicine is still being studied, so there's no guarantee it will work for you. Like all medicines, alpelisib can have side effects, and the study team will carefully explain these to you. Your safety and well-being are a top priority, and doctors will closely monitor you throughout the study. Remember, joining is completely voluntary, and you have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (32)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Washington University
Verified postcode
St Louis, United States· Recruiting
Cinn Children Hosp Medical Center
Verified postcode
Cincinnati, United States· Recruiting
Childrens Hosp Pittsburgh UPMC
Verified postcode
Pittsburgh, United States· Recruiting
Baylor College Of Medicine
Verified postcode
Houston, United States· Recruiting
Novartis Investigative Site
Verified postcode
Sydney, Australia· Recruiting
Novartis Investigative Site
Verified postcode
Sydney, Australia· Recruiting
Novartis Investigative Site
Verified postcode
North Adelaide, Australia· Recruiting
Novartis Investigative Site
Verified postcode
Salzburg, Austria· Recruiting
Novartis Investigative Site
Verified postcode
Vienna, Austria· Recruiting
Novartis Investigative Site
Verified postcode
Ghent, Belgium· Recruiting
Novartis Investigative Site
Verified postcode
Angers, France· Recruiting
Novartis Investigative Site
Verified postcode
Bron, France· Recruiting

Common questions

What is PROS?

PROS stands for PIK3CA-related Overgrowth Spectrum, a condition where parts of the body grow too much due to a specific gene change.

What is alpelisib?

Alpelisib is the name of the medicine being tested in this study. It's hoped to help reduce the unusual growth in people with PROS.

How long will I be in the study?

The initial treatment period is about one year, but you could continue for up to two more years if the medicine is helping you.

Do I have to pay to be in the study?

No, all study-related treatments and tests are provided at no cost to you.

Can children join this study?

Yes, children aged 2 years and older, as well as adults, can take part in this study.

How to find out more

Novartis Pharmaceuticals

novartis.email@novartis.com 1-888-669-6682 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.