Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum Who Have Received Alpelisib

NCT04285723 | Completed Results

• 1 other identifier: CBYL719F12002
• Study Type: observational
• Target: 57
• Locations: 5 countries
• Sites: 7

Brief Summary

The study was a site-based retrospective non-interventional medical chart review of pediatric and adult male and female patients with PIK3CA-Related Overgrowth Spectrum (PROS) who initiated alpelisib at least 24 weeks before the cut-off date at a MAP site. The study cut-off date was 09-Mar-2020. Patient-level data were abstracted from medical charts of all eligible patients at all participating sites. Study completion date refers to the last date data was extracted. Information from patients treated with alpelisib was used to describe the efficacy and safety of alpelisib in PROS patients.

Conditions

PIK3CA-Related Overgrowth Spectrum (PROS)

Keywords

alpelisib; PIK3CA; BYL719; PROS; Retrospective chart review study; EPIK-P1

Outcome Measures

Primary Outcomes (1)

• Percentage of Patients Responders and Non-responders at Week 24

  Response is defined by achieving at least 20% reduction from index date in the sum of measurable target lesion volume (1 to 3 lesions, via central review of imaging scans), provided that none of the individual target lesions have ≥ 20% increase from index date and in absence of progression of non-target lesions and without new lesions.

  Index date and week 24 or 6 months (± 4 weeks)

Secondary Outcomes (20)

• Percent Change in the Sum of Measurable Target Lesion Volume

  Index date, week 4, 12 , 24, 52 and end of study (up to a maximum of week 187)

• Percent Change in the Sum of All Measurable Lesion Volume

  Index date, week 4, 12 , 24, 52 and end of study (up to a maximum of week 187)

• Percent Change in the Sum of All Measurable Non-target Lesion Volume

  Index date, week 4, 12 , 24, 52 and end of study (up to a maximum of week 187)

• Mean Duration of Response (DoR)

  Up to 187 weeks

• Reasons for Discontinuation of Concomitant PROS-related Non-drug Treatments

  Up to 187 weeks

Study Arms (1)

alpelisib

Patients treated with alpelisib

Other: alpelisib

Interventions

alpelisib OTHER

Retrospective observational case-only study. There is no treatment allocation. Patients with severe or life-threatening PROS who have received alpelisib as part of a compassionate use program were invited to participate.

alpelisib

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients who participated in the compassionate use program and received alpelisib for the treatment of PIK3CA-related overgrowth spectrum (PROS).

You may qualify if:

• Patient (adult or pediatric) is ≥ 2 years of age
• Patient has a physician confirmed/documented diagnosis of PROS
• Patient has a documented evidence of a mutation in the PIK3CA gene
• Patient's condition was assessed by the treating physician as severe or life threatening and treatment was deemed necessary
• Patient has been treated with at least one dose of alpelisib, initiated on or before 23-Sep-2019 (i.e. at least 24 weeks before the cut-off date of the 09-Mar-2020)
• Patient has medical chart history available during enrollment in the Novartis MAP

Sponsors & Collaborators

• Novartis Pharmaceuticals: lead

Study Sites (7)

Boston Childrens Hospital

Boston, Massachusetts, 02215, United States

Location

Novartis Investigative Site

Parkville, Victoria, 3052, Australia

Location

Novartis Investigative Site

Montpellier, Herault, 34059, France

Location

Novartis Investigative Site

Dijon, 21000, France

Location

Novartis Investigative Site

Paris, 75015, France

Location

Novartis Investigative Site

Dublin, 12, Ireland

Location

Novartis Investigative Site

Madrid, 28046, Spain

Location

Related Publications (3)

• Fujino A, Kuniyeda K, Nozaki T, Ozeki M, Ohyama T, Sato I, Kamibeppu K, Tanaka A, Uemura N, Kanmuri K, Nakamura K, Kobayashi F, Suenobu S, Nomura T, Hayashi A, Nagao M, Kato A, Aramaki-Hattori N, Imagawa K, Ishikawa K, Ochi J, Horiuchi S, Nagabukuro H. The Prospective Natural History Study of Patients with Intractable Venous Malformation and Klippel-Trenaunay Syndrome to Guide Designing a Proof-of-Concept Clinical Trial for Novel Therapeutic Intervention. Lymphat Res Biol. 2024 Feb;22(1):27-36. doi: 10.1089/lrb.2023.0023. Epub 2023 Dec 19.

  PMID: 38112724 DERIVED

• Canaud G, Lopez Gutierrez JC, Irvine AD, Vabres P, Hansford JR, Ankrah N, Branle F, Papadimitriou A, Ridolfi A, O'Connell P, Turner S, Adams DM. Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS). Genet Med. 2023 Dec;25(12):100969. doi: 10.1016/j.gim.2023.100969. Epub 2023 Aug 24.

  PMID: 37634128 DERIVED

• Singh S, Bradford D, Li X, Mishra-Kalyani PS, Shen YL, Wang L, Zhao H, Xiong Y, Liu J, Charlab R, Kraft J, Khasar S, Miller CP, Rivera DR, Kluetz PG, Pazdur R, Beaver JA, Singh H, Donoghue M. FDA Approval Summary: Alpelisib for PIK3CA-Related Overgrowth Spectrum. Clin Cancer Res. 2024 Jan 5;30(1):23-28. doi: 10.1158/1078-0432.CCR-23-1270.

  PMID: 37624421 DERIVED

MeSH Terms

Conditions

Hereditary Sensory and Autonomic Neuropathies

Interventions

Alpelisib

Condition Hierarchy (Ancestors)

Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Results Point of Contact

• Title: Study Director
• Organization: Novartis Pharmaceuticals

novartis.email@novartis.com

862-778-8300

Study Officials

• Novartis Pharmaceuticals

  Novartis Pharmaceuticals

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: OTHER
• Restrictive Agreement: Yes

Study Design

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

Study Record Dates

• First Submitted: November 26, 2019
• First Posted: February 26, 2020
• Study Start: June 9, 2020
• Primary Completion: April 16, 2021
• Study Completion: April 16, 2021
• Last Updated: February 9, 2023
• Results First Posted: February 9, 2023

Record last verified: 2022-05

Data Sharing

• IPD Sharing: Will not share

Locations

AU (1); FR (3); US (1); IE (1); ES (1)