Active not recruitingPHASE2INTERVENTIONAL

Study Assessing the Efficacy, Safety and PK of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum

This research study is investigating a new medication called Alpelisib for people, both children and adults, living with PIK3CA-related overgrowth spectrum (PROS). PROS is a condition where certain body parts grow more than they should. The study aims to understand if Alpelisib can effectively reduce this overgrowth and if it's safe to use. Initially, some participants will receive Alpelisib and others a placebo (a dummy drug without active medicine) for 16 weeks, without knowing which they are getting. After this, everyone will have the opportunity to receive Alpelisib. Researchers will carefully monitor participants throughout the study to track changes in their condition and any side effects, helping to determine the medicine's potential benefits for those with PROS.

At a glance

Status

Active not recruiting

Phase

PHASE2

Sponsor

Novartis Pharmaceuticals

Enrolment target

206

Start

19 Apr 2021

Estimated completion

09 Jan 2031

Results

Results from this study

Posted February 2025

Results have been published for this study.

Primary outcome

Proportion of Participants Randomized to Alpelisib With a Confirmed Objective Response by BIRC in Group 1 and Group 2

A responder is defined by achieving a \>=20% reduction from baseline in the sum of target lesion volumes (via BIRC), provided that none of the individual target lesions have a \>=20% increase from baseline and in absence of progression of non target lesions and without new lesions. Confirmation of response requires a subsequent imaging assessment performed at least 4 weeks after the onset of response. Participants who permanently discontinued alpelisib prior to confirmation of response, and participants who received surgery as rescue therapy prior to confirmation of response are considered as non-responders.

Full results on the registry

What is this study about?

This study is looking at a new medicine called Alpelisib for people who have a condition called PIK3CA-related overgrowth spectrum (PROS). PROS is a condition where some parts of the body grow larger than they should. This can affect different parts of the body and can sometimes cause problems. The main goal of this study is to find out if Alpelisib can help manage this overgrowth and whether it's safe for patients to use. This information is really important because it could lead to new ways to help people living with PROS.

The study involves both children and adults, and it's being conducted in different medical centres. Initially, for 16 weeks, some participants will receive the active medicine (Alpelisib) and others will receive a placebo, which looks just like the study medicine but contains no active ingredient. Neither the participants nor their doctors will know who is getting which. This is a standard way to fairly test if the new medicine is actually working better than no treatment at all. After this initial period, everyone will get the chance to receive Alpelisib.

Throughout the study, the research team will keep a close eye on participants. They'll be checking to see how the overgrowth responds to the treatment and monitoring for any side effects. By carefully collecting this information, scientists can learn a lot about how Alpelisib works, its potential benefits, and how well it is tolerated, with the hope of improving treatment options for PROS.

Key takeaways

This study evaluates Alpelisib for PIK3CA-related overgrowth spectrum (PROS).
It aims to see if the medicine is safe and effective in reducing overgrowth.
Participation involves an initial period where some receive the active medicine and some a placebo.
Children and adults with symptomatic PROS may be eligible.
Regular health checks and monitoring are big parts of the study.
You can withdraw from the study at any time without affecting your usual care.

Who may be eligible?

To join this study, you generally need to have a diagnosis of PIK3CA-related overgrowth spectrum (PROS) where the overgrowth is causing symptoms or getting worse. This diagnosis must be confirmed by a specific genetic test showing a fault in the PIK3CA gene.

You can be an adult or a child of any age from birth onwards to take part. Your overall health needs to be good enough to participate, and you'll need to be able to take the study medicine, either as a tablet, a drinkable liquid, or granules if you're very young. The study will conduct health checks to confirm your suitability.

Those who would not be able to join include people whose only symptoms are isolated enlarged fingers or toes, certain types of skin lesions, or an enlarged head with no other PROS features. The study team will review all your medical information to confirm if you meet all the requirements for participation.

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.

Do you have a diagnosis of PROS?
Is your PROS causing symptoms or getting worse?
Has a genetic test shown a PIK3CA gene fault?
Are you able to swallow medicine as a tablet, liquid, or granules?
Do you have any isolated macrodactyly, certain skin lesions, or only an enlarged head?

Answer every question to see your result.

What does participation involve?

If you decide to join this study, it will involve several stages. Initially, for 16 weeks, you'll be randomly assigned to receive either Alpelisib or a placebo. Neither you nor the study doctors will know which you are receiving during this time. After these initial 16 weeks, all participants will have the opportunity to receive Alpelisib.

Throughout the study, you'll have regular visits to the hospital or clinic for health check-ups. These check-ups will include measurements of your overgrowth, blood tests, and other assessments to see how the medicine is affecting you and to check for any side effects. The total duration of your participation in the study, including follow-up, could extend for a period of time, with active treatment continuing for at least 48 weeks. The study team will explain the exact schedule of visits and assessments in more detail.

Potential risks and benefits

Taking part in a clinical study can offer potential benefits, such as access to a new medicine that isn't widely available yet, which might help manage your PROS. It also means you'll receive careful medical attention and regular monitoring of your condition. However, there are also potential risks; the medicine might not work for you, or you might experience side effects. The study team will explain all known potential side effects and monitor you closely. It's important to remember that participating is completely voluntary, and you have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (36)

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

UCSF Birthmarks and Vascular Center
Verified postcode
San Francisco, United States
Childrens Hospital Colorado
Verified postcode
Aurora, United States
Washington Univ School Of Medicine
Verified postcode
St Louis, United States
Fink Childrens Ambulatory Care Ctr
Verified postcode
New York, United States
UNC Chapel Hill
Verified postcode
Chapel Hill, United States
Cinn Children Hosp Medical Center
Verified postcode
Cincinnati, United States
Cincinnati Children s Hospital Medical Center
Verified postcode
Cincinnati, United States
CHOP Abramson Pediatric Resch Ctr
Verified postcode
Philadelphia, United States
Unv of TX Southwestern Medical Center
Verified postcode
Dallas, United States
Baylor College Of Medicine
Verified postcode
Houston, United States
Childrens Hospital and Regional Medical Center
Verified postcode
Seattle, United States
Novartis Investigative Site
Verified postcode
Montreal, Canada

Common questions

What is PROS?

PROS stands for PIK3CA-related overgrowth spectrum. It's a condition where certain body parts grow more than they should, often due to a specific genetic change.

What is Alpelisib?

Alpelisib is the name of the investigational medicine being tested in this study. It aims to target the genetic change linked to PROS to help manage the overgrowth.

What is a placebo?

A placebo is a 'dummy' drug that looks exactly like the study medicine but doesn't contain any active ingredients. It's used to compare against the real medicine.

Will I know if I'm getting the active medicine or placebo?

For the first 16 weeks, neither you nor your doctor will know if you're receiving Alpelisib or the placebo. This is to ensure fair testing of the medicine.

Can children participate?

Yes, children of all ages, from birth, who meet the other study requirements, can participate in certain parts of this study.