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

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What is this study about?

This clinical trial focuses on studying PIK3CA-Related Overgrowth Spectrum (PROS), a condition that causes abnormal tissue growth in various parts of the body. The study will test a medication called alpelisib (also known as BYL719), which is available as film-coated tablets and granules that are taken by mouth.

The purpose of this study is to determine how well alpelisib works in treating both adults and children (age 2 and older) who have PROS. The medication will be given daily at doses up to 250 milligrams for a treatment period lasting up to 168 weeks.

During the study, participants will have their tissue growths measured using MRI scans to see if they shrink in response to the treatment. The study will also monitor pain levels, overall symptoms, and any side effects that may occur. Participants will be checked regularly for changes in their condition, including how the medication affects their daily activities and quality of life.

1 Initial evaluation

Your condition will be assessed to confirm the presence of PIK3CA-related overgrowth spectrum (PROS)

Medical tests will be performed to verify adequate bone marrow and organ function

A measurable lesion of at least 2 cm will be identified and evaluated

2 Treatment initiation

You will begin taking alpelisib (BYL719) orally

The medication comes in two forms: film-coated tablets or granules

Regular evaluations of your response to treatment will be scheduled

3 Ongoing assessments

Your PROS lesions will be measured regularly using MRI scans

Pain levels will be evaluated using specific assessment tools

Blood samples will be taken to measure medication levels in your body

Any new symptoms or side effects will be monitored and recorded

4 Treatment monitoring

Regular checks of vital signs and laboratory values will be performed

Cardiac function will be assessed periodically

If you are of applicable age, growth, bone/dental development, and sexual maturation will be monitored

5 Long-term follow-up

Your progress will be tracked until 2030

Any PROS-related symptoms and complications will be monitored

Healthcare visits and any required surgical procedures will be documented

Who Can Join the Study?

Must be at least 2 years old at the time of giving consent
Must have a confirmed diagnosis of PROS (PIK3CA-Related Overgrowth Spectrum) with symptoms that are getting worse over time. The condition must affect multiple body areas or have specific features (single enlarged finger/toe, enlarged head, or skin marks alone are not eligible)
Must have a confirmed PIK3CA gene mutation through DNA testing, and tissue samples must be available or obtainable through biopsy if medically safe
Must have adequate physical functioning ability:
– For participants over 16 years: Karnofsky score of 50 or higher (able to care for self but unable to work or do normal activities)
– For participants 16 years or younger: Lansky score of 50 or higher (requires considerable assistance for daily activities)
Must have at least mild severity of symptoms as measured by the Patient Global Impression of Severity (PGI-S) scale during screening
Must have normal bone marrow and organ function
Must have at least one measurable growth related to PROS that is:
– At least 2 centimeters in size
– Confirmed by medical imaging experts
– Causing problems, symptoms, or limitations in daily life

Who Cannot Join the Study?

Age below 2 years old
Presence of active malignancy (cancer) or history of cancer in the past 3 years (except for adequately treated non-melanoma skin cancer or cervical cancer)
Known hypersensitivity (severe allergic reaction) to alpelisib or its components
Severe liver disease or abnormal liver function tests
Uncontrolled diabetes (blood sugar levels that are not well managed)
Pregnant or breastfeeding women
Use of other investigational drugs within 30 days before starting the study
Severe heart conditions, including:
- Recent heart attack
- Unstable heart rhythm problems
- Heart failure with symptoms
Severe kidney disease requiring dialysis
Any medical condition that, in the investigator’s opinion, would make participation unsafe
Unable to swallow oral medications
Mental conditions that prevent understanding of study requirements

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name	City	Country
Fondazione Policlinico Universitario Agostino Gemelli IRCCS	Rome	Italy
Hopital Necker Enfants Malades	Paris	France
Universitaetsklinikum Heidelberg AöR	Heidelberg	Germany
Oncopole Claudius Regaud	Toulouse	France

Other Sites

Site Name	City	Country
Universitair Ziekenhuis Gent	Gent	Belgium
Hospital Sant Joan De Deu Barcelona	Esplugues De Llobregat	Spain
St. Anna Kinderspital GmbH	Vienna	Austria
Katholisches Kinderkrankenhaus Wilhelmstift gGmbH	Hamburg	Germany
Istituto Di Ricovero E Cura A Carattere Scientifico Materno Infantile Burlo Garofolo	Trieste	Italy
Klinikum Der Landeshauptstadt Stuttgart gKAöR	Stuttgart	Germany
Charite Universitaetsmedizin Berlin KöR	Berlin	Germany
Centre Hospitalier Universitaire De Montpellier	Montpellier	France
Medical Center – University Of Freiburg	Freiburg Im Breisgau	Germany
Stichting Radboud University Medical Center	Nijmegen	The Netherlands
Centre Hospitalier Lyon Sud	Pierre Benite	France
Universitaetsklinikum Leipzig AöR	Leipzig	Germany
Uniklinikum Salzburg	Salzburg	Austria
Cyybwnrgi Uqrmbiauxiaulh Sjnejlcpy	Woluwe-Saint-Lambert	Belgium
Cxqkdl Hjrpqhnnadr Uywgclyntpiei Dq Dxeiv	Dijon	France
Cflyns Hagmjrkfkle Rzocsqmz Ukxhroskclavk Dr Twtyd	Tours	France
Ambzukw Ogtnpzrurhk Uorvznzzkkeoc Cwvkwukmewgu Drtsa Svbiko E Dplgr Spwnrqk Dw Tricya	Turin	Italy
Mhbliqdpxlbuqubjopblxbgcrk Hdlxzrrywwplnvgp	Halle (Saale)	Germany
Ccmnez Hbzauejhyyb Rdmkhprp Djrnjhmhmcmcre	Angers	France
Fptaupcxn Pbar Ln Ikmzsumkozlzr Boemilokb Dvc Huffeyms Ubwontyuzcice Lj Put	Madrid	Spain
Ugckxrgsalvrkdlxnjmus Dedihufteoi Avc	Duesseldorf	Germany
Hrwxytld Vjgd daxqbrdu	Barcelona	Spain
Hdellgay Unlhdtzvcybst do A Cfvzov	A Coruna Galicia	Spain

Trial status

Country	Status	Recruitment Start
Austria	Recruiting	01.12.2025
Belgium	Recruiting	01.12.2025
France	Recruiting	01.12.2025
Germany	Recruiting	01.12.2025
Italy	Recruiting	01.12.2025
Spain	Recruiting	01.12.2025
The Netherlands	Not yet recruiting	01.12.2025

Trial locations

Investigated drugs:

Alpelisib

Alpelisib (also known as BYL719) is a medication that targets specific genetic changes in the PIK3CA gene. It works by blocking certain proteins that contribute to abnormal cell growth. This medication is designed to treat patients who have a condition called PIK3CA-Related Overgrowth Spectrum (PROS), which causes various parts of the body to grow disproportionately. The medication is taken orally and aims to reduce the overgrowth of tissues affected by this genetic condition.

Investigated diseases:

PIK3CA related overgrowth spectrum

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, muscles, bones, and skin. The overgrowth typically begins during early development and continues throughout life, with symptoms varying widely among individuals. The condition may cause physical differences that become more noticeable over time as the affected areas continue to grow.

Trial ID:

2024-519960-42-00

Protocol code:

CBYL719F12202

Trial Phase:

Therapeutic exploratory (Phase II)

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