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Completed

NCT Number: NCT07222423

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

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.

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Key information

Conditions

PIK3CA-related Overgrowth Spectrum Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hereditary Sensory and Autonomic Neuropathies Heredodegenerative Disorders, Nervous System Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies

Age range

2 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Novartis

East Hanover, New Jersey, 07936, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Yearly Prevalence Rate

    Time frame: 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.

  2. Yearly Incidence Rate

    Time frame: 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 outcomes

  1. Number of Patients by Patient Characteristics

    Time frame: Baseline

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

  2. Number of Comorbidities per Patient

    Time frame: Baseline

  3. Number of Patients by PROS Diagnosis

    Time frame: 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)]

  4. Number of Patients by Type of PROS-related Technical Procedures

    Time frame: Baseline

    Technical procedures were identified by codes according to the Medical Classification for Clinical Procedure Nomenclature (CCAM).

  5. Number of Patients by Type of Hospitalization

    Time frame: Baseline

    Hospitalization type included inpatient and outpatient visits.

  6. Average Length of Stay of Hospitalization

    Time frame: Baseline

  7. Number of Patients by Hospitalization Severity

    Time frame: 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.

  8. Average Duration of Follow-up

    Time frame: Up to approximately 6 years

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

    Time frame: Up to approximately 6 years

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

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

    Time frame: Up to approximately 6 years

    PROS-related hospitalizations included outpatient and inpatient hospitalizations.

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

    Time frame: Up to approximately 6 years

  12. Number of Patients With PROS-related Hospitalization During the Follow-up Period by Type of Hospitalization and Age Range

    Time frame: Up to approximately 6 years

    Hospitalizations included inpatient and outpatient hospitalizations.

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

    Time frame: Up to approximately 6 years

  14. Number of PROS-related Hospitalizations During the Follow-up Period by Level of Severity

    Time frame: 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.

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

    Time frame: Up to approximately 6 years

  16. 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

  17. Number of External Technical Procedures and Visits of Interest During the Follow-up Period

    Time frame: 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

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

    Time frame: 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

  19. Number of External Technical Procedures and Visits by Specialty of the Performing Healthcare Professional During the Follow-up Period

    Time frame: 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

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

    Time frame: Up to approximately 6 years

  21. 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

  22. Healthcare Resource Consumption Rate Per Patient-Year (PPY) During the Follow-up Period

    Time frame: 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

  23. Healthcare Costs PPY During the Follow-up Period

    Time frame: 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

Sponsors and collaborators

Lead sponsor

Novartis Pharmaceuticals

Industry

Registry information

Official study title

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

Acronym: EpiPROS

Important dates

Study start
2024
Primary completion
2024
Study completion
2024
First posted
Oct 29, 2025
Registry last updated
Oct 29, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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