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

Epidemiology and Hospital Management of Patients With PROS in France: a PMSI Study

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.

Study Overview

• Status: Completed
• Conditions: PIK3CA-Related Overgrowth Spectrum

• Study Type: Observational
• Enrollment (Actual): 3605

Contacts and Locations

Study Locations

• United States
  • New Jersey
    • East Hanover, New Jersey, United States, 07936
      • Novartis

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

This was a retrospective, noninterventional cohort study.

Description

Inclusion criteria:

Population P1 was identified using a combined query, considering:

• International Classification of Diseases, 10th Revision, Clinical Modification (ICD-10-CM) codes for PROS-related malformations; OR
• PROS-related technical procedures performed during hospitalizations to relieve the symptoms of the disease.

Subpopulation SP1 was identified through the identification of at least two PROS-related hospitalizations (PROS-related ICD-10-CM or technical procedure code), including the index hospitalization.

Exclusion criteria:

Presence at any time during the entire study period of:

• ICD-10-CM codes for chromosomal malformation; OR
• ICD-10-CM code for hemangioma to avoid inclusion of patients with hemangioma and other vascular malformation; OR
• ICD-10-CM codes associated with the following comorbidities: cancer, cerebrovascular pathologies, hemiplegia (for pediatric patients only), metastatic pathologies, or myocardial infarction.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Target Population (P1); Children and adults hospitalized for disease management of PROS.
Subpopulation (SP1); Patients from P1 with at least two PROS-related hospitalizations (including the index hospitalization).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Yearly Prevalence Rate	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.	Up to approximately 6 years
Yearly Incidence Rate	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.	Up to approximately 6 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Patients by Patient Characteristics	Patient characteristics included age, sex, region of residence, and comorbidities.	Baseline
Number of Comorbidities per Patient		Baseline
Number of Patients by PROS Diagnosis	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)]	Baseline
Number of Patients by Type of PROS-related Technical Procedures	Technical procedures were identified by codes according to the Medical Classification for Clinical Procedure Nomenclature (CCAM).	Baseline
Number of Patients by Type of Hospitalization	Hospitalization type included inpatient and outpatient visits.	Baseline
Average Length of Stay of Hospitalization		Baseline
Number of Patients by Hospitalization Severity	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.	Baseline
Average Duration of Follow-up		Up to approximately 6 years
Number of All-cause Hospitalizations During the Follow-up Period	All-cause hospitalizations included medical, surgery, obstetrics and dentistry.	Up to approximately 6 years
Number of PROS-related Hospitalizations During the Follow-up Period	PROS-related hospitalizations included outpatient and inpatient hospitalizations.	Up to approximately 6 years
Average Length of Stay of PROS-related Inpatient Hospitalization During the Follow-up Period		Up to approximately 6 years
Number of Patients With PROS-related Hospitalization During the Follow-up Period by Type of Hospitalization and Age Range	Hospitalizations included inpatient and outpatient hospitalizations.	Up to approximately 6 years
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 by Level of Severity	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.	Up to approximately 6 years
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	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	Up to approximately 6 years
Number of Patients With an External Technical Procedure and Visit of Interest During the Follow-up Period	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	Up to approximately 6 years
Number of External Technical Procedures and Visits by Specialty of the Performing Healthcare Professional During the Follow-up Period	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	Up to approximately 6 years
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	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	Up to approximately 6 years
Healthcare Costs PPY During the Follow-up Period	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	Up to approximately 6 years

Collaborators and Investigators

• Sponsor: Novartis Pharmaceuticals
• Investigators: Study Director: Novartis Pharmaceuticals, Novartis Pharmaceuticals

Study record dates

Study Major Dates

• Study Start (Actual): January 15, 2024
• Primary Completion (Actual): October 8, 2024
• Study Completion (Actual): October 8, 2024

Study Registration Dates

• First Submitted: October 27, 2025
• First Submitted That Met QC Criteria: October 27, 2025
• First Posted (Actual): October 29, 2025

Study Record Updates

• Last Update Posted (Actual): October 29, 2025
• Last Update Submitted That Met QC Criteria: October 27, 2025
• Last Verified: October 1, 2025

More Information

Terms related to this study

• Keywords: Prevalence; PIK3CA; Cost; Healthcare Resource Consumption
• Additional Relevant MeSH Terms: Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neurodegenerative Diseases; Congenital Abnormalities; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Polyneuropathies; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hereditary Sensory and Autonomic Neuropathies
• Other Study ID Numbers: CBYL719F1FR02