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Study of alpelisib in children and adults with PIK3CA-Related Overgrowth Spectrum (PROS)

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What is this study about?

This study focuses on PIK3CA-Related Overgrowth Spectrum (PROS), a condition that causes abnormal tissue growth in various parts of the body. The research examines the effectiveness and safety of a medication called alpelisib (also known as BYL719) in both children and adults with this condition. The medication comes in the form of film-coated tablets and granules that are taken by mouth.

The purpose of this study is to determine if alpelisib can help reduce the size of tissue overgrowth in people with PROS. During the study, participants will receive either alpelisib or placebo. The medication will be given daily for 16 weeks, with the possibility of continued treatment. The study will measure changes in the size of affected tissue areas using Magnetic Resonance Imaging (MRI) scans.

The treatment will be evaluated based on whether it can reduce the size of abnormal tissue growths by at least 20%. Participants will be monitored throughout the study to check how well the medication works and to watch for any side effects. The study includes both adults aged 18 and older, and children between 6 and 17 years old.

1 Initial screening

Your doctor will perform screening procedures to confirm your eligibility for the study

A test will be performed to check for PIK3CA gene mutation in your tissue sample

Medical tests will check your blood sugar levels: fasting glucose must be ≤140 mg/dL and HbA1c (long-term blood sugar measure) must be ≤6.5%

2 Baseline measurements

An MRI scan will be taken to measure your lesions – at least one lesion must be 2 cm or larger

Your lesions will be assessed by independent medical experts

Your general physical condition will be evaluated using a performance status score

3 Treatment period – first 16 weeks

You will be randomly assigned to receive either alpelisib (BYL719) tablets or placebo tablets

The medication or placebo will be taken by mouth daily

The tablets come in two strengths: 50 mg (light yellow) and 125 mg (dark yellow)

4 Monitoring and assessment

Your lesions will be measured regularly using MRI scans

Success of the treatment will be determined by at least 20% reduction in lesion size

Your lesions will be monitored to ensure none have grown by 20% or more

You will be checked for any new lesions that may develop

5 Long-term follow-up

The study will continue until June 2030

Regular assessments will monitor your response to treatment

Your overall health and any side effects will be tracked throughout the study period

Who Can Join the Study?

  • You must sign an informed consent form before any study procedures begin. For minors, parent or legal guardian consent is required
  • You must have PROS (PIK3CA-Related Overgrowth Spectrum) with symptoms that are getting worse and at least one measurable growth that can be evaluated by medical experts
  • You must have documented evidence of changes in the PIK3CA gene confirmed by laboratory tests
  • You need to provide a tissue sample for testing. This can be either:
    • An existing (archival) tissue sample, or
    • A new tissue sample (if required and medically safe to obtain)
  • You must have adequate physical functioning ability as measured by:
    • Karnofsky score (for patients over 16 years) or
    • Lansky score (for patients 16 years or younger)
    • The score must be 50 or higher
  • Your blood tests must show:
    • Fasting blood sugar level of 140 mg/dL or less
    • HbA1c (average blood sugar) level of 6.5% or less
    • Adequate bone marrow and organ function
  • You must have at least one PROS-related growth that:
    • Is at least 2 centimeters in size
    • Can be measured accurately by MRI (magnetic resonance imaging)
    • Causes symptoms or limits your daily activities

Who Cannot Join the Study?

  • History of severe hypersensitivity (allergic reaction) to alpelisib or similar medications
  • Active malignant cancer (cancer that is growing or spreading) or history of cancer in the past 3 years, except for successfully treated skin cancers
  • Severe uncontrolled diabetes (blood sugar levels that are not well managed)
  • Pregnancy or breastfeeding for female participants
  • Participation in another clinical trial within 30 days before starting this study
  • Severe liver problems or abnormal liver function tests
  • Serious heart conditions, including:
    • Uncontrolled high blood pressure
    • Recent heart attack
    • Unstable heart rhythm problems
  • Severe mental health conditions that could interfere with following study procedures
  • Use of medications that could interact with the study drug
  • Any medical condition that the study doctor believes would make participation unsafe

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name City Country Status
Oslo Universitetssykehus HF Oslo Norway
Hopital Necker Enfants Malades Paris France
Universitaetsklinikum Heidelberg AöR Heidelberg Germany
Universitaet Leipzig Leipzig Germany

Other Sites

Site Name City Country Status
Hospital Sant Joan De Deu Barcelona Esplugues De Llobregat Spain
Pellegrin Hospital Bordeaux France
Katholisches Kinderkrankenhaus Wilhelmstift gGmbH Hamburg Germany
Stichting Radboud University Medical Center Nijmegen The Netherlands
Medical Center – University Of Freiburg Freiburg Im Breisgau Germany
Ospedale Pediatrico Bambino Gesu’ Rome Italy
Cbxgwt Hugvnmodlep Ujximeexkppyl Db Dodcb Dijon France
Ucefwjuqxbukghphonoap Dwqnimfbdwz Aan Duesseldorf Germany
Cpxtmh Htxattlecsh Rbnkgedc Ucrsjqfelzuxa Di Taeji Tours France
Ammrtth Omphnrelfbd Udvyjpiddckaq Cbzcpyciozka Dibxe Setymw E Dowxs Sktkzsy Da Tccabx Turin Italy
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Want to learn more about this study or check if you can participate? Contact us.

Trial status

Country Status Recruitment Start
France France
Not recruiting
22.04.2021
Germany Germany
Not recruiting
22.04.2021
Italy Italy
Not recruiting
22.04.2021
Norway Norway
Not recruiting
22.04.2021
Spain Spain
Not recruiting
22.04.2021
The Netherlands The Netherlands
Not recruiting
22.04.2021

Trial locations

Investigated drugs:

Alpelisib (also known as BYL719) is a medication that targets a specific genetic pathway involved in tissue growth. It is designed to treat a condition called PIK3CA-Related Overgrowth Spectrum (PROS), which causes certain parts of the body to grow disproportionately. This medication works by blocking abnormal cell growth signals in affected tissues, potentially helping to reduce or control overgrowth in patients with PROS. It is taken orally and is being studied in both adults and children over 6 years of age.

Investigated diseases:

PIK3CA-Related Overgrowth Spectrum (PROS) – A rare genetic condition characterized by overgrowth of various tissues in the body due to mutations in the PIK3CA gene. The condition causes different parts of the body to grow disproportionately, leading to enlargement of affected tissues and organs. PROS can affect multiple areas including blood vessels, fat tissue, muscles, bones, and skin. The overgrowth typically begins during early development and continues throughout life, with symptoms varying widely among affected individuals. The condition may involve one or multiple body parts, and the extent of tissue overgrowth can range from mild to severe.

Trial ID:
2023-508530-34-00
Protocol code:
CBYL719F12201
NCT ID:
NCT04589650
Trial Phase:
Therapeutic exploratory (Phase II)

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