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

Novartis

Status: Completed

Conditions: PIK3CA-Related Overgrowth Spectrum

Study type: Observational

Funder types: Industry

Identifiers

NCT07222423

CBYL719F1FR02

Details and patient eligibility

About

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.

Enrollment: 3,605 patients

Sex: All

Ages: 2+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

3,605 participants in 2 patient groups

Target Population (P1)

Description:

Children and adults hospitalized for disease management of PROS.

Subpopulation (SP1)

Description:

Patients from P1 with at least two PROS-related hospitalizations (including the index hospitalization).