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New hope for rare overgrowth disorder: daily pill could tame symptoms

NCT ID NCT06997588

Disease control Sponsor: Novartis Pharmaceuticals Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Sep 18, 2026 · Updated 6 times

Summary

This study tests a daily oral drug called alpelisib in people aged 2 and older with PIK3CA-related overgrowth spectrum (PROS), a rare condition causing abnormal tissue growth. The goal is to see if the drug can shrink overgrown tissue and improve symptoms. About 104 participants will take the drug daily, and doctors will monitor changes using MRI scans.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
alpelisib (BYL719), a daily oral drug
What this could lead to
If it works, this could provide a treatment to shrink overgrown tissue and manage symptoms in people with PROS, potentially improving daily life.
What could go wrong
This is a mid-stage trial with only 104 participants, so results may not apply to everyone. The drug may cause side effects and might not work for all types of overgrowth.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 2

Tests whether the treatment actually works, and watches for side effects, in a larger group.

Participants

About 104 people

The number the study aims to enrol. It can still change while the study runs.

Started

Oct 2025

Expected to finish

Sep 2030

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

2 to 100 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Key Inclusion Criteria: 1. Male or female participants aged ≥2 years at the time of informed consent/assent. 2. Participants with diagnosis of PROS (according to Clinical Diagnostic Criteria for PROS proposed by Keppler Noreuil et al 2014) with symptomatic AND progressive overgrowth, who have syndromic disease or isolated features (with the exception of isolated macrodactyly, macrocephaly or epidermal nevus) at the time of informed consent/assent. 3. Documented evidence of a somatic mutation(s) in the PIK3CA gene performed in local laboratories using a DNA-based test AND available archival tissue (if archival tissue sample is not available, a fresh biopsy should be performed, if it is not clinically contraindicated) at the time of informed consent/assent. 4. Karnofsky (in participants \>16 years of age at study entry) or Lansky (≤16 years of age at study entry) performance status index ≥50. 5. PGI-S score of mild, moderate, severe, or very severe at screening. 6. Adequate bone marrow and organ function. 7. Presence of at least 1 PROS-related measurable lesion (longest diameter ≥2 cm) confirmed by BIRC assessment and associated with complaints, clinical symptoms or functional limitations affecting the participant's everyday life. Key Exclusion Criteria: 1. Participant with only isolated macrodactyly, epidermal nevus/nevi and macroencephaly (the only clinical feature or a combination of any of three of them), in absence of other PROS-related lesions at the time of informed consent/assent. 2. Previous treatment with alpelisib and/or any other phosphatidylinositol 3-kinase (PI3K) inhibitor(s) (except treatment attempt, defined as the attempt to treat PROS with any of PI3K inhibitors, with treatment duration less than 2 weeks and stopped at least 4 weeks prior to the first dose of study medication with alpelisib). 3. Debulking or other major surgery performed within 3 months at the time of informed consent/assent. 4. Radiation exposure for PROS treatment purpose within 12 months prior to informed consent/assent. 5. Clinically meaningful PROS-related thrombotic event (Grade 2 and more as per CTCAE v4.03) within 30 days before informed consent/assent, and/or sclerotherapy/embolization for vascular complications performed within 6 weeks before informed consent/assent. 6. Clinically meaningful bleeding from PROS-related lesion (Grade 2 and more as per CTCAE v4.03) within 30 days before study treatment initiation. 7. Participants with clinically significant worsening of PROS-related laboratory abnormalities, physical signs and symptoms (such as, but not limited to increase of D-dimers, worsening of underlying pain, newly occurring swelling or redness) indicating an uncontrolled condition during the screening phase. Other inclusion/exclusion criteria may apply

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Conditions

The condition(s) this trial relates to.

PIK3CA-related overgrowth spectrum

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

PIK3CA-related overgrowth spectrum (PROS)

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    39 sites in 11 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Baylor College Of Medicine

    RECRUITING

    Houston, Texas, 77030, United States

  • Childrens Hosp Pittsburgh UPMC

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

  • Childrens Hospital and Regional Medical Center

    RECRUITING

    Seattle, Washington, 98105, United States

  • Cinn Children Hosp Medical Center

    RECRUITING

    Cincinnati, Ohio, 45229-3039, United States

  • Nationwide Children s Hospital

    RECRUITING

    Columbus, Ohio, 43205, United States

  • Novartis Investigative Site

    RECRUITING

    Sydney, New South Wales, 2010, Australia

  • Novartis Investigative Site

    RECRUITING

    Sydney, New South Wales, 2031, Australia

  • Novartis Investigative Site

    RECRUITING

    North Adelaide, South Australia, 5066, Australia

  • Novartis Investigative Site

    RECRUITING

    Salzburg, 5020, Austria

  • Novartis Investigative Site

    RECRUITING

    Vienna, 1090, Austria

  • Novartis Investigative Site

    RECRUITING

    Ghent, 9000, Belgium

  • Novartis Investigative Site

    RECRUITING

    Angers, 49933, France

  • Novartis Investigative Site

    RECRUITING

    Bron, 69677, France

  • Novartis Investigative Site

    RECRUITING

    Dijon, 21000, France

  • Novartis Investigative Site

    RECRUITING

    Montpellier, 34295, France

  • Novartis Investigative Site

    RECRUITING

    Paris, 75015, France

  • Novartis Investigative Site

    RECRUITING

    Toulouse, 31400, France

  • Novartis Investigative Site

    RECRUITING

    Tours, 37044, France

  • Novartis Investigative Site

    RECRUITING

    Freiburg im Breisgau, Baden-Wurttemberg, 79106, Germany

  • Novartis Investigative Site

    RECRUITING

    Düsseldorf, North Rhine-Westphalia, 40225, Germany

  • Novartis Investigative Site

    RECRUITING

    Leipzig, Saxony, 04103, Germany

  • Novartis Investigative Site

    RECRUITING

    Halle, Saxony-Anhalt, 06120, Germany

  • Novartis Investigative Site

    RECRUITING

    Berlin, 13353, Germany

  • Novartis Investigative Site

    RECRUITING

    Stuttgart, 70374, Germany

  • Novartis Investigative Site

    RECRUITING

    Roma, RM, 00168, Italy

  • Novartis Investigative Site

    RECRUITING

    Torino, TO, 10126, Italy

  • Novartis Investigative Site

    RECRUITING

    Trieste, TS, 34137, Italy

  • Novartis Investigative Site

    RECRUITING

    Nijmegen, 6525 GA, Netherlands

  • Novartis Investigative Site

    RECRUITING

    Esplugues, Barcelona, 08950, Spain

  • Novartis Investigative Site

    RECRUITING

    A Coruña, 15006, Spain

  • Novartis Investigative Site

    RECRUITING

    Barcelona, 08035, Spain

  • Novartis Investigative Site

    RECRUITING

    Madrid, 28046, Spain

  • Novartis Investigative Site

    RECRUITING

    Lausanne, 1011, Switzerland

  • Novartis Investigative Site

    RECRUITING

    Liverpool, L12 2AP, United Kingdom

  • Novartis Investigative Site

    RECRUITING

    London, WC1N 3JH, United Kingdom

  • Oregon Health Sciences University

    RECRUITING

    Portland, Oregon, 97239, United States

  • UT Health Science Center

    RECRUITING

    Houston, Texas, 77030, United States

  • University of North Carolina at Chapel Hill

    RECRUITING

    Chapel Hill, North Carolina, 27599, United States

  • Washington University

    RECRUITING

    St Louis, Missouri, 63110, United States

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