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Treatment for lymphatic malformations with a specific genetic mutation

A Two-stage Double-blind, Randomized, Placebo-controlled Study to Assess the Efficacy, Safety and Pharmacokinetics of Alpelisib in Pediatric and Adult Patients With Lymphatic Malformations Associated With a PIK3CA Mutation.

Phase2; Phase3 Interventional Novartis · NCT05948943

This study is testing if a new targeted therapy called alpelisib can help both kids and adults with lymphatic malformations caused by a specific genetic mutation.

Quick facts

PhasePhase2; Phase3
Study typeInterventional
Enrollment232 (estimated)
Ages0 Years to 100 Years
SexAll
SponsorNovartis Industry-sponsored
Locations56 sites (Oakland, California and 55 other locations)
Trial IDNCT05948943 on ClinicalTrials.gov

What this trial studies

This clinical trial evaluates the effectiveness of alpelisib, a targeted therapy, in treating lymphatic malformations associated with a PIK3CA mutation in both pediatric and adult patients. The study is divided into two stages: the first stage focuses on determining the appropriate dosage of alpelisib through a 24-week open-label phase, while the second stage involves a randomized, double-blind, placebo-controlled phase to confirm efficacy and safety. Participants will be monitored for changes in radiological response and symptom severity throughout the trial. The study aims to provide a comprehensive assessment of the treatment's impact on this specific patient population.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 0-17 years with a confirmed diagnosis of symptomatic lymphatic malformations and a documented PIK3CA mutation.

Not a fit: Patients who are candidates for non-drug therapies such as sclerotherapy, embolization, or surgery may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could significantly improve the management and outcomes for patients with lymphatic malformations linked to PIK3CA mutations.

How similar studies have performed: Other studies targeting PIK3CA mutations have shown promise, indicating potential for success with this approach.

Eligibility criteria

Show full inclusion / exclusion criteria 
Key inclusion criteria:

1. Signed informed consent and assent (when applicable) from the participant, parent, legal authorized representative or guardian.
2. Participant must be willing to remain at the clinical site as required by the protocol and be willing to adhere to study restrictions and examination schedules.
3. Participant has a physician confirmed and documented diagnosis of a symptomatic LyM at the time of informed consent (Note: the physician must confirm that the LyM cannot be included under the PROS diagnostic criteria).
4. Participant is not considered as a candidate for or is not willing to receive non-drug therapies including but not limited to sclerotherapy, embolization, and surgery until the completion of Week 24 in Stage 1 and 2.
5. Participant has evidence of a somatic mutation(s) in the PIK3CA gene prior to randomization.
6. Participant has at least one measurable LyM lesion confirmed by BIRC assessment prior to randomization.
7. Participants must be able to ingest study drug (either in tablet form or as a drinkable suspension \[Groups 1 to 4\] or granules or as an oral suspension \[Group 5\]) as assessed within 7 days before study treatment start. Drug administration via feeding tubes is allowed.

Key exclusion criteria:

1. Participant has a physician-confirmed and documented diagnosis of PROS at the time of informed consent.
2. Participant has a physician-confirmed and documented diagnosis of a Central Conducting Lymphatic Anomaly, General Lymphatic Anomaly, Gorham-Stout disease, Kaposiform lymphangiomatosis at the time of informed consent.
3. Participant has a known history of Stevens-Johnson syndrome, erythema multiforme, or toxic epidermal necrolysis at the time of informed consent.
4. Participant has an established diagnosis of type I diabetes mellitus or uncontrolled type II diabetes mellitus at the time of informed consent.
5. Participant had previous treatment with alpelisib and/or any other PI3K inhibitors with treatment duration longer than 2 weeks at the time of informed consent.

Other inclusion/exclusion criteria may apply

Where this trial is running

Oakland, California and 55 other locations

+6 more sites — see ClinicalTrials.gov for the full list.

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Lymphatic MalformationsLymphatic malformationsCystic lymphangiomaCystic hygromaLymphangioma circumscriptumCavernous lymphangiomaLymphangiomaMacrocystic lymphatic malformation
Last reviewed 2026-06-09 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.