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

NCT07222423 | Completed

• 1 other identifier: CBYL719F1FR02
• Study Type: observational
• Target: 3,605
• Locations: 1 country
• Sites: 1

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.

Conditions

PIK3CA-Related Overgrowth Spectrum

Keywords

PIK3CA; Prevalence; Healthcare Resource Consumption; Cost

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (23)

• Number of Patients by Patient Characteristics

  Baseline

• Number of Comorbidities per Patient

  Baseline

• Number of Patients by PROS Diagnosis

  Baseline

• Number of Patients by Type of PROS-related Technical Procedures

  Baseline

• Number of Patients by Type of Hospitalization

  Baseline

Study Arms (2)

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).

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This was a retrospective, noninterventional cohort study.

You may qualify if:

• 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.

You may not qualify if:

• Presence at any time during the entire study period of:
• ICD-10-CM codes for chromosomal malformation; OR
• ICD-10-CM codes associated with the following comorbidities: cancer, cerebrovascular pathologies, hemiplegia (for pediatric patients only), metastatic pathologies, or myocardial infarction.

Sponsors & Collaborators

• Novartis Pharmaceuticals: lead

Study Sites (1)

Novartis

East Hanover, New Jersey, 07936, United States

Location

MeSH Terms

Conditions

Hereditary Sensory and Autonomic Neuropathies

Condition Hierarchy (Ancestors)

Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Novartis Pharmaceuticals

  Novartis Pharmaceuticals

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 27, 2025
• First Posted: October 29, 2025
• Study Start: January 15, 2024
• Primary Completion: October 8, 2024
• Study Completion: October 8, 2024
• Last Updated: October 29, 2025

Record last verified: 2025-10

Locations

US (1)