PIK3CA-Related Overgrowth Spectrum
Conditions
Keywords
PIK3CA, Prevalence, Healthcare Resource Consumption, Cost
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.
Interventions
None listed
Sponsors
Novartis Pharmaceuticals
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
2 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 \[Macrodactyly (fingers)\] |
| 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. |
| Average Length of Stay of Hospitalization | Baseline | — |
| 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 During the Follow-up Period | Up to approximately 6 years | PROS-related hospitalizations included outpatient and inpatient hospitalizations. |
| 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 | Up to approximately 6 years | Hospitalizations included inpatient and outpatient hospitalizations. |
| Number of Patients by Patient Characteristics | Baseline | Patient characteristics included age, sex, region of residence, and comorbidities. |
| 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 |
| Number of PROS-related Hospitalizations by Year of Follow-up | Up to approximately 6 years | — |
| Number of Comorbidities per Patient | Baseline | — |
Countries
United States
Outcome results
None listed