A Study of the Epidemiology and Hospital Management of Patients With PROS in France

Completed

• Conditions: PIK3CA-Related Overgrowth Spectrum

• Registration Number: NCT07222423
• Lead Sponsor: Novartis Pharmaceuticals

Brief Summary

The purpose of this study was to estimate the incidence and prevalence of a group of genetic disorders known as PIK3CA-Related Overgrowth Spectrum (PROS) in France. Additionally, the study aimed to characterize patients, disease management, and costs associated with PROS. This study used data from the French National Hospitals Database, Programme de Médicalisation des Systèmes d'Information (PMSI). The study period was from January 2015 to December 2022.

Detailed Description

Not available

Study Timeline

• Study Start: 2024-01-15
• Primary Completion: 2024-10-08
• Study Completion: 2024-10-08
• Status Verified: 2025-10
• Study First Submitted: 2025-10-27
• Study First Submitted QC: 2025-10-27
• Last Update Submitted: 2025-10-27
• Study First Posted: 2025-10-29
• Last Update Posted: 2025-10-29

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 3605

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Yearly Prevalence Rate	Up to approximately 6 years	Yearly prevalence rate was calculated by dividing the number of identified patients with PROS by the total French population during the inclusion period. The inclusion period was from January 2017 to December 2022.
Yearly Incidence Rate	Up to approximately 6 years	Yearly incidence rate was calculated by dividing the number of PROS newly diagnosed cases during the inclusion period (incident cases) by the total French population during the inclusion period. The inclusion period was from January 2017 to December 2022.

Secondary Outcome Measures

Name	Time	Method
Number of Patients by Patient Characteristics	Baseline	Patient characteristics included age, sex, region of residence, and comorbidities.
Number of Comorbidities per Patient	Baseline
Number of Patients by PROS Diagnosis	Baseline	Diagnoses included: * Lymphangioma, any site; * Peripheral arteriovenous malformation; * Arteriovenous malformation of precerebral vessels; * Arteriovenous malformation of the cerebral vessels; * Megalencephaly; * Other congenital malformations of the upper limb(s), including the shoulder girdle \[Macrodactyly (fingers)\]
Average Length of Stay of Hospitalization	Baseline
Number of Patients by Type of PROS-related Technical Procedures	Baseline	Technical procedures were identified by codes according to the Medical Classification for Clinical Procedure Nomenclature (CCAM).
Number of Patients by Type of Hospitalization	Baseline	Hospitalization type included inpatient and outpatient visits.
Number of Patients by Hospitalization Severity	Baseline	The severity of a hospitalization was determined by the values 1/2/3/4 assigned to the last character of the Diagnosis Related Group (DRG) code for that hospitalization, with higher numbers indicating greater severity.
Average Duration of Follow-up	Up to approximately 6 years
Number of All-cause Hospitalizations During the Follow-up Period	Up to approximately 6 years	All-cause hospitalizations included medical, surgery, obstetrics and dentistry.
Number of PROS-related Hospitalizations by Year of Follow-up	Up to approximately 6 years
Number of PROS-related Hospitalizations During the Follow-up Period	Up to approximately 6 years	PROS-related hospitalizations included outpatient and inpatient hospitalizations.
Number of Patients With PROS-related Hospitalization During the Follow-up Period by Type of Hospitalization and Age Range	Up to approximately 6 years	Hospitalizations included inpatient and outpatient hospitalizations.
Average Length of Stay of PROS-related Inpatient Hospitalization During the Follow-up Period	Up to approximately 6 years
Number of PROS-related Hospitalizations During the Follow-up Period by Level of Severity	Up to approximately 6 years	The severity of a hospitalization was determined by the values 1/2/3/4 assigned to the last character of the DRG code for that hospitalization, with higher numbers indicating greater severity.
Number of All-cause External Technical Procedures and Visits During the Follow-up Period	Up to approximately 6 years
Number of Patients With at Least one All-cause External Technical Procedure and Visit During the Follow-up Period	Up to approximately 6 years
Number of External Technical Procedures and Visits of Interest During the Follow-up Period	Up to approximately 6 years	Procedures and visits of interest were under the following specialties: * Psychiatry; * Dental surgery; * Vascular medicine; * Medical genetics; * Hematology; * Nephrology; * Visceral and digestive surgery; * Gastroenterology and hepatology; * Reconstructive and aesthetic plastic surgery; * Orthopedic surgery and traumatology; * Pediatric surgery; * Dermatology and venereology; * Pediatrics; * Anesthesiology; * Nurse; * Radiodiagnostic and medical imaging
Number of Patients With an External Technical Procedure and Visit of Interest During the Follow-up Period	Up to approximately 6 years	Procedures and visits of interest were under the following specialties: * Psychiatry; * Dental surgery; * Vascular medicine; * Medical genetics; * Hematology; * Nephrology; * Visceral and digestive surgery; * Gastroenterology and hepatology; * Reconstructive and aesthetic plastic surgery; * Orthopedic surgery and traumatology; * Pediatric surgery; * Dermatology and venereology; * Pediatrics; * Anesthesiology; * Nurse; * Radiodiagnostic and medical imaging
Number of External Technical Procedures and Visits by Specialty of the Performing Healthcare Professional During the Follow-up Period	Up to approximately 6 years	Healthcare professional specialties included: * Psychiatry; * Dental surgery; * Vascular medicine; * Medical genetics; * Hematology; * Nephrology; * Visceral and digestive surgery; * Gastroenterology and hepatology; * Plastic, reconstructive, and aesthetic surgery; * Orthopedic surgery and traumatology; * Pediatric surgery; * Dermatology and venereology; * Pediatrics; * Anesthesiology; * Nurse; * Radiodiagnostic and medical imaging
Number of Emergency Room Visits not Followed by Hospitalization During the Follow-up Period	Up to approximately 6 years
Number of Patients With at Least one Emergency Room Visit not Followed by Hospitalization During the Follow-up Period	Up to approximately 6 years
Healthcare Resource Consumption Rate Per Patient-Year (PPY) During the Follow-up Period	Up to approximately 6 years	Healthcare resource consumption rates PPY were calculated by dividing the sum of the number of hospital care visits for the patients of interest by the sum of the years of follow-up for all these patients. Rates were calculated for: * All-cause hospitalization; * PROS-related hospitalization (inpatient and outpatient); * All-cause external technical procedures and visits; * External technical procedures and visits performed by healthcare professionals of interest; * Emergency room visits not followed by hospitalization
Healthcare Costs PPY During the Follow-up Period	Up to approximately 6 years	Healthcare costs PPY were calculated by dividing the sum of the hospital costs for the patients of interest by the sum of the years of follow-up for all these patients. Costs were calculated for: * All-cause hospitalization; * All-cause external technical procedures and visits; * PROS-related hospitalization; * External technical procedures and visits performed by healthcare professionals of interest

Trial Locations

Locations (1)

Novartis; 🇺🇸 East Hanover, New Jersey, United States