PIK3CA-Related Overgrowth SpectrumEpiPROSNCT07222423
A Study of the Epidemiology and Hospital Management of Patients With PROS in France
An observational study of PIK3CA-Related Overgrowth Spectrum, run by Novartis Pharmaceuticals at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- PIK3CA-Related Overgrowth Spectrum
- How many people
- 3,605 participants
- Where
- 1 siteUnited States
- Study dates
- 15 Jan 2024to 8 Oct 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: This was a retrospective, noninterventional cohort study.
Who may be able to join
- 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.
Who cannot join
- 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 locations and contacts
1 site in 1 country.
About this study
Official title: Epidemiology and Hospital Management of Patients With PROS in France: a PMSI Study
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
- Medical subject headings
- Hereditary Sensory and Autonomic Neuropathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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). |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: Up to approximately 6 years
Secondary outcomes (23)
Number of Patients by Patient Characteristics
Patient characteristics included age, sex, region of residence, and comorbidities.
Measured: Baseline
Number of Comorbidities per Patient
Measured: 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)]
Measured: 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).
Measured: Baseline
Number of Patients by Type of Hospitalization
Hospitalization type included inpatient and outpatient visits.
Measured: Baseline
Average Length of Stay of Hospitalization
Measured: 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.
Measured: Baseline
Average Duration of Follow-up
Measured: Up to approximately 6 years
Number of All-cause Hospitalizations During the Follow-up Period
All-cause hospitalizations included medical, surgery, obstetrics and dentistry.
Measured: Up to approximately 6 years
Number of PROS-related Hospitalizations During the Follow-up Period
PROS-related hospitalizations included outpatient and inpatient hospitalizations.
Measured: Up to approximately 6 years
Average Length of Stay of PROS-related Inpatient Hospitalization During the Follow-up Period
Measured: 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.
Measured: Up to approximately 6 years
Number of PROS-related Hospitalizations by Year of Follow-up
Measured: 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.
Measured: Up to approximately 6 years
Number of All-cause External Technical Procedures and Visits During the Follow-up Period
Measured: Up to approximately 6 years
Number of Patients With at Least one All-cause External Technical Procedure and Visit During the Follow-up Period
Measured: 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
Measured: Up to approximately 6 years
Number of Patients With an External Technical Procedure and Visit 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
Measured: 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
Measured: Up to approximately 6 years
Number of Emergency Room Visits not Followed by Hospitalization During the Follow-up Period
Measured: Up to approximately 6 years
Number of Patients With at Least one Emergency Room Visit not Followed by Hospitalization During the Follow-up Period
Measured: 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
Measured: 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
Measured: Up to approximately 6 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Oct 2025
- Study start15 Jan 2024
- Primary completion8 Oct 2024
- Study completion8 Oct 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PIK3CA-Related Overgrowth SpectrumStudies of the same condition, open and under way.
- More trials run by Novartis PharmaceuticalsThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 3,605 participants (actual)
Sponsor and investigators
- Lead sponsor
- Novartis Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Novartis Pharmaceuticals, Study director, Novartis Pharmaceuticals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07222423
- Sponsor's protocol ID
- CBYL719F1FR02
- Acronym
- EpiPROS
- Status last verified
- Oct 2025
- First submitted
- 27 Oct 2025
- Last updated
- 29 Oct 2025
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Epidemiology and Hospital Management of Patients With PROS in France: a PMSI Study
- ClinicalTrials.gov ID
- NCT07222423
- Acronym / sponsor ID
- EpiPROS / CBYL719F1FR02
- Conditions
- PIK3CA-Related Overgrowth Spectrum
- Keywords
- PIK3CA, Prevalence, Healthcare Resource Consumption, Cost
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3,605 participants (actual)
- Lead sponsor
- Novartis PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- 15 Jan 2024 (actual)
- Primary completion
- 8 Oct 2024 (actual)
- Study completion
- 8 Oct 2024 (actual)
- First posted
- 29 Oct 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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). |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This was a retrospective, noninterventional cohort study.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
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.
23 secondary outcomes
Number of Patients by Patient Characteristics
Time frame: Baseline
Number of Comorbidities per Patient
Time frame: Baseline
Number of Patients by PROS Diagnosis
Time frame: Baseline
Number of Patients by Type of PROS-related Technical Procedures
Time frame: Baseline
Number of Patients by Type of Hospitalization
Time frame: Baseline
Average Length of Stay of Hospitalization
Time frame: Baseline
Number of Patients by Hospitalization 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
Time frame: Up to approximately 6 years
Number of PROS-related Hospitalizations During the Follow-up Period
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
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
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
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
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
Time frame: Up to approximately 6 years
Healthcare Costs PPY During the Follow-up Period
Time frame: Up to approximately 6 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Novartis Pharmaceuticals study director
Novartis Pharmaceuticals
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of PIK3CA-Related Overgrowth Spectrum, run by Novartis Pharmaceuticals at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Yearly Prevalence Rate (time frame: Up to approximately 6 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2025.