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

Novartis Pharmaceuticals3,605 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

3,605

Conditions

PIK3CA-Related Overgrowth Spectrum

Eligibility

Sex: ALLMin age: 2 Years

Medical Language ↔ Plain English

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.

Locations (1)

Novartis

East Hanover, New Jersey, United States

Outcomes

Primary Outcomes

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.

Time frame: 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.

Time frame: Up to approximately 6 years

Secondary Outcomes

Number of Patients by Patient Characteristics

Patient characteristics included age, sex, region of residence, and comorbidities.

Time frame: Baseline

Number of Comorbidities per Patient

Time frame: 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 \[Macrodactyly (fingers)\]

Time frame: 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).

Time frame: Baseline

Number of Patients by Type of Hospitalization

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.

Hospitalization type included inpatient and outpatient visits.

Time frame: Baseline

Average Length of Stay of Hospitalization

Time frame: 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.

Time frame: Baseline

Average Duration of Follow-up

Time frame: Up to approximately 6 years

Number of All-cause Hospitalizations During the Follow-up Period

All-cause hospitalizations included medical, surgery, obstetrics and dentistry.

Time frame: Up to approximately 6 years

Number of PROS-related Hospitalizations During the Follow-up Period

PROS-related hospitalizations included outpatient and inpatient hospitalizations.

Time frame: Up to approximately 6 years

Average Length of Stay of PROS-related Inpatient Hospitalization During the Follow-up Period

Time frame: 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.

Time frame: Up to approximately 6 years

Number of PROS-related Hospitalizations by Year of Follow-up

Time frame: 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.

Time frame: Up to approximately 6 years

Number of All-cause External Technical Procedures and Visits During the Follow-up Period

Time frame: Up to approximately 6 years

Number of Patients With at Least one All-cause External Technical Procedure and Visit During the Follow-up Period

Time frame: 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

Time frame: Up to approximately 6 years

Number of Patients With an External Technical Procedure and Visit of Interest During the Follow-up Period

Time frame: 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

Time frame: Up to approximately 6 years

Number of Emergency Room Visits not Followed by Hospitalization During the Follow-up Period

Time frame: Up to approximately 6 years

Number of Patients With at Least one Emergency Room Visit not Followed by Hospitalization During the Follow-up Period

Time frame: 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

Time frame: 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

Time frame: Up to approximately 6 years