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RecruitingInterventionalPhase 2/Phase 3

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.

NCT ID: NCT05948943Sponsor: Novartis PharmaceuticalsLast updated: 2026-06-11

Summary

The main purpose of this study in participants with PIK3CA-mutated LyM is to assess the change in radiological response and symptom severity upon treatment with alpelisib film-coated tablets (FCT) as compared to placebo.

Detailed description

This is a phase II/III multi-center study with two stages: * Stage 1 is designed to select the dose(s) for the confirmatory phase (DSCP) for alpelisib in Stage 2 and will comprise a 24-week open-label core phase in adult (≥18 years of age) and pediatric participants (6-17 years of age) with PIK3CA-mutated LyM, followed by an extension. After eligibility has been confirmed at screening, participants will be randomized in a 1:1 ratio to the different alpelisib doses according to their age. Depending on the results at the end of Stage 1 core phase, the Stage 2 will be opened to adult and/or pediatric participants or the study may be stopped. * Stage 2 is designed to confirm the efficacy and assess safety of alpelisib at the DSCP in participants with PIK3CA-mutated LyM and will comprise a 24-week randomized, double blind, placebo-controlled confirmatory phase in adult (≥18 years of age) and pediatric participants 6-17 years of age followed by an open-label extension. After eligibility has been confirmed at screening participants will be randomized in a 2:1 ratio to alpelisib or placebo. Additionally, in parallel, Stage 2 will include a 24-week open-label core phase in pediatric participants 0-5 years of age followed by an extension, if pediatric participants will be enrolling in Stage 2. Based on the results of the 24-week open-label core phase of Stage 1, the dose(s) for Stage 2 will be selected by Novartis in consultation with the Steering Committee (SC). During the 24-week randomized, double blind, placebo-controlled core phase of Stage 2, an Independent Data Monitoring Committee (DMC) will conduct periodic safety and efficacy reviews to assess the risk benefit profile of the treatment.

Arms & interventions

  • DrugAlpelisib

    In Stage 1: adult participants (≥18 years of age) will receive dose 1 or dose 2 of alpelisib; pediatric participants (6-17 years of age) will receive dose 2 or dose 3 of alpelisib. In Stage 2: Adult participants will receive alpelisib at the dose selected for confirmatory phase in adult participants; pediatric participants (6-17 years of age) will will receive alpelisib at the dose selected for confirmatory phase in pediatric participants; and pediatric participants of 0-5 years of age will receive dose 3 of alpelisib

  • DrugPlacebo

    In Stage 2, participants will receive matching placebo for 24 weeks of the study

Outcome measures

Primary

  • Stage 2:Radiological response rate at Week 24 of Stage 2 (adult and pediatric (6 - 17 years of age) participants)

    Radiological response defined by achieving at least 20% reduction in the sum of target lesion volumes (1 to 3 lesions), assessed by MRI by a BIRC at Week 24, provided that none of the individual target lesions has at least 20% increase from baseline and in absence of progression of non-target lesions and without new lesions. The percentage of participants with a radiological response at Week 24 of Stage 2 in adult and pediatric (6-17 years of age) groups will be assessed

    Time frame: Baseline, Week 24

Secondary

  • Stage 2: Percentage of participants with at least a 1-point improvement compared to baseline based on patient global impression of severity (PGI-S) scale at Week 24 of Stage 2 (adult and pediatric (6 - 17 years of age) participants)

    Time frame: Baseline, Week 24

  • Stage 2: Percentage of participants with a radiological response at Week 24 of Stage 2 (pediatric participants 0-5 years of age)

    Time frame: Baseline, Week 24

  • Stage 2: Change from baseline in patient global impression of change (PGI-C) scale (adult and pediatric (6-17 years of age) participants)

    Time frame: Up to approximately 8 years

  • Stage 2: Change from baseline in patient-reported outcomes measurement information system (PROMIS) profile domains(adult and pediatric (6-17 years of age) participants)

    Time frame: Up to approximately 8 years

  • Stage 2: Change from baseline in investigator global impression of change (IGIC) scale (adult and pediatric (6-17 years of age) participants)

    Time frame: Up to approximately 8 years

  • Stage 2: Change from baseline in health utilities of the EuroQol 5-dimension (EQ-5D) (adult and pediatric (6-17 years of age) participants)

    Time frame: Up to approximately 8 years

  • Stage 1 and 2: Duration of response (DOR) in adult and pediatric participants who receive alpelisib

    Time frame: Up to approximately 8 years

  • Stage 1: Radiological response rate of alpelisib in adult and pediatric (6-17 years of age) participants

    Time frame: Baseline, Week 24

  • Stage 1 and 2: Radiological response rate of alpelisib in adult and pediatric participants

    Time frame: Up to approximately 8 years

  • Stage 1 and 2: Alpelisib plasma concentrations

    Time frame: On Day 1 of Week 8, 16, 24, 48 and 120

  • Stage 1 and 2: Percentage of participants with of LyM-related symptoms, complications, and comorbidities on treatment with alpelisib in adult and pediatric participants at Week 24

    Time frame: Week 24

  • Stage 1 and 2: Percentage of participants with of LyM-related symptoms, complications, and comorbidities on treatment with alpelisib in adult and pediatric participants

    Time frame: Up to approximately 8 years

  • Stage 1 and 2: Change from baseline in LyM lesions in adult and pediatric participants at Week 24

    Time frame: Baseline, Week 24

  • Stage 1 and 2: Change from baseline in LyM lesions in adult and pediatric participants

    Time frame: Up to approximately 8 years

  • Stage 1 and 2: Percentage of participants with changes in non-target lesions in adult and pediatric participants at Week 24

    Time frame: Baseline, Week 24

  • Stage 1 and 2: Percentage of participants with changes in non-target lesions in adult and pediatric participants

    Time frame: Up to approximately 8 years

  • Stage 1 and 2: Percentage of participants with new lesions in adult and pediatric participants at Week 24

    Time frame: Baseline, Week 24

  • Stage 1 and 2: Percentage of participants with new lesions in adult and pediatric participants

    Time frame: Up to approximately 8 years

Eligibility criteria

Sex: AllAge: 0 Years to 100 YearsHealthy volunteers: No
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

Study locations (16)

UCSF Benioff Children s Hospital

Oakland, California, 94609

Recruiting
Beth Apsel Winger · Principal Investigator

Lucile Packard Childrens Hosp

Palo Alto, California, 94304

Recruiting
Thomas Buschbacher · Contact
Joyce Teng · Principal Investigator

Childrens National Medical Center

Washington D.C., District of Columbia, 20010-2970

Recruiting
Regine Hyppolite · Contact
Yaser Diab · Principal Investigator

Nemours Childrens Clinic

Jacksonville, Florida, 32207

Recruiting
Anderson Collier · Principal Investigator

Childrens Hosp Boston Dept of Heme

Boston, Massachusetts, 02115

Recruiting
Tishi Shah · Principal Investigator

WA Uni School Of Med

St Louis, Missouri, 63110

Recruiting
Alison Barnwell · Contact
Bryan Sisk · Principal Investigator

Cinn Children Hosp Medical Center

Cincinnati, Ohio, 45229-3039

Recruiting
Sarah Price · Contact
Adrienne Hammill · Principal Investigator

Univ Hospital Of Cleveland

Cleveland, Ohio, 44106

Recruiting
Howard Wang · Principal Investigator

Cleveland Clinic Foundation

Cleveland, Ohio, 44195

Recruiting
Bea Ferreira Alves · Contact
Michael Kelly · Principal Investigator

Nationwide Children s Hospital

Columbus, Ohio, 43205

Recruiting
Bhuvana Setty · Principal Investigator

Oregon Health Science University

Portland, Oregon, 97239

Recruiting
Deepthi Makam · Contact
Melinda Wu · Principal Investigator

CHOP Abramson Pediatric Resch Ctr

Philadelphia, Pennsylvania, 19104

Recruiting
Melissa Casey · Contact
Denise Adams · Principal Investigator

Childrens Hosp Pittsburgh UPMC

Pittsburgh, Pennsylvania, 15224

Recruiting
Alex Berkebile · Contact
Julia Segal · Principal Investigator

Baylor College Of Medicine

Houston, Texas, 77030

Recruiting
Gaylon Stevenson · Contact
Ionela Iacobas · Principal Investigator

U of TX Health Science Ct

Houston, Texas, 77030

Recruiting
Autumn Atkinson · Principal Investigator

Childrens Hospital and Regional Medical Center

Seattle, Washington, 98105

Recruiting
Jonathan A Perkins · Principal Investigator