A Study of Clinical Practice and Real-world Care of Patients Treated With mTOR, PI3K, and MEK Inhibitors for Extracranial Vascular Anomalies

NCT07767877 | Not Yet Recruiting

• 1 other identifier: CBYL719F1US02
• Study Type: observational
• Target: 200
• Locations: 0 countries
• Sites: N/A

Brief Summary

This study aims to describe real-world patient characteristics, treatment patterns, and adverse events associated with targeted therapies used in patients with complex vascular anomalies. The study will create an active registry for participating centers to enter data on patients with complex vascular anomalies being treated with sirolimus/everolimus (mTOR inhibitors), with/without trametinib (MEK inhibitor), or alpelisib (PIK3CA inhibitor). Tertiary care centers in the United States (US) that receive referrals for complex vascular anomaly cases and use Electronic Health Records (EHRs) will contribute patient medical chart reviews to this registry.

Conditions

Vascular Anomalies

Keywords

Vascular anomaly; Targeted therapy; Pi3KCA inhibitor; mTOR inhibitor; MEK inhibitor; QoL

Outcome Measures

Primary Outcomes (3)

• Baseline Demographics

  Baseline

• Number of Patients by Clinical Characteristics

  Characteristics include vascular anomaly diagnosis, family history of vascular anomalies, cancer diagnosis, disease severity and anatomic locations involved, associated complications, other medical and surgical interventions, and other medications used.

  Baseline

• Number of Patients by Treatment Received in Each Line of Therapy

  Up to 10 years

Secondary Outcomes (12)

• Number of Adverse Events per Person per Year (PPPY)

  Up to 10 years

• Total Number of Adverse Events

  Up to 10 years

• Percentage of Patients With Adverse Events

  Up to 10 years

• Number of Clinical Response Events PPPY

  Up to 10 years

• Total Number of Clinical Response Events

  Up to 10 years

Study Arms (1)

Complex Vascular Anomaly Group

Patients with vascular anomalies that were treated with mTOR inhibitors (sirolimus/everolimus), a MEK inhibitor (trametinib), and a PIK3CA inhibitor (alpelisib) for a minimum of 3 months.

Eligibility Criteria

• Age: 0 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Pediatric and adult patients with complex vascular anomalies who have been treated for at least three months with mTOR inhibitors, PI3K inhibitors, and/or MEK inhibitors at academic and community vascular centers across the US.

You may qualify if:

• Diagnosed with a spectrum of vascular anomalies including but not limited to congenital vascular and lymphatic anomalies, vascular tumors and lymphatic malformations, and acquired vascular malformations.
• Treated with ≥1 of mammalian target of rapamycin (mTOR) inhibitors, mitogen-activated protein kinase/ERK kinase (MEK) inhibitors and phosphoinositide 3-kinase (PI3K) inhibitors continuously for 3 months.

You may not qualify if:

• Patients diagnosed with a vascular anomaly who have not been treated with mTOR inhibitors, MEK inhibitors and PI3K inhibitors for at least 3 months.
• Patients with other complex medical conditions; i.e. rare genetic syndromes.
• Patients receiving many other systemic therapies making data collection not feasible.
• Recurrent use of immunosuppressive agents, i.e. systemic steroids or targeted medical therapies for oncologic disorders, etc.
• Patients with significant gaps in data collection.
• Patients with concurrent enrollment in interventional trials.

Sponsors & Collaborators

• Novartis Pharmaceuticals: lead

MeSH Terms

Conditions

Vascular Malformations

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Novartis Pharmaceuticals

  Novartis Pharmaceuticals

  STUDY DIRECTOR

Central Study Contacts

Novartis Pharmaceuticals

CONTACT

+41613241111; novartis.email@novartis.com

Novartis Pharmaceuticals

CONTACT

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 11, 2026
• First Posted: August 17, 2026
• Study Start: September 30, 2026
• Primary Completion (Estimated): October 29, 2027
• Study Completion (Estimated): October 29, 2027
• Last Updated: September 1, 2026

Record last verified: 2026-08

Data Sharing

• IPD Sharing: Will not share