NCT05630105

Brief Summary

This is a multicentric, observational, retrospective and prospective study, aiming to estimate the risk of cancer occurrence in subjects carrying a PTEN mutation, based on the constitution of a national cohort.

Trial Health

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Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial recruitment is currently suspended
Enrollment
430

participants targeted

Target at P75+ for all trials

Timeline
261mo left

Started Jun 2023

Longer than P75 for all trials

Geographic Reach
1 country

45 active sites

Status
suspended

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress13%
Jun 2023Jan 2048

First Submitted

Initial submission to the registry

November 10, 2022

Completed
19 days until next milestone

First Posted

Study publicly available on registry

November 29, 2022

Completed
7 months until next milestone

Study Start

First participant enrolled

June 12, 2023

Completed
24.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2048

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2048

Last Updated

May 15, 2026

Status Verified

May 1, 2026

Enrollment Period

24.6 years

First QC Date

November 10, 2022

Last Update Submit

May 13, 2026

Conditions

Keywords

PTEN gene mutationrisk of cancer occurence

Outcome Measures

Primary Outcomes (1)

  • Number of subjects with a cancer event

    Number of subjects with a cancer event (any cancer) observed in the population of subjects presenting a constitutional alteration of the PTEN gene.

    From date of identification of a constitutional alteration of the PTEN gene until the date of first cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

Secondary Outcomes (6)

  • Number of subjects with a breast cancer event

    From date of identification of a constitutional alteration of the PTEN gene until the date of first breast cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

  • Number of subjects with a thyroid cancer event

    From date of identification of a constitutional alteration of the PTEN gene until the date of first thyroid cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

  • Number of subjects with an endometrial cancer event

    From date of identification of a constitutional alteration of the PTEN gene until the date of first endometrial cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

  • Number of subjects with a renal cancer event

    From date of identification of a constitutional alteration of the PTEN gene until the date of first renal cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

  • Number of subjects with a colorectal cancer event

    From date of identification of a constitutional alteration of the PTEN gene until the date of first colorectal cancer event or date of death from any cause, whichever came first, assessed up to 20 years.

  • +1 more secondary outcomes

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

National observational cohort of participants identified as carriers of a constitutional alteration of the PTEN gene identified and/or confirmed by the Bergonié Institute, the national reference laboratory for the molecular diagnosis of Cowden's disease between 1997 and 2027.

You may qualify if:

  • Male or female.
  • Adult or child without age limit.
  • Carrier of a constitutional or mosaic alteration of the PTEN gene established and/or confirmed by the Institut Bergonié's genetics laboratory, following a request for molecular diagnosis made between 1997 and 2027.
  • Participant informed of his genetic diagnosis.
  • Participant informed and not having expressed non-opposition to participate in the research.
  • Participant affiliated to a French social security system in accordance with French law on research involving the human person.

You may not qualify if:

  • Participant under guardianship or curatorship. Exception: a participant with autism may be included in the study.
  • Persons deprived of their liberty by a judicial or administrative decision.
  • Persons under psychiatric care, persons admitted to a health or social establishment for purposes other than research; Exception: a participant with autism may be included in the study.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (45)

1-CHU Amiens

Amiens, France

Location

2-CHU Angers

Angers, France

Location

3-ICO Angers et Nantes

Angers, France

Location

4-CHU Besançon

Besançon, France

Location

5-CHU Bordeaux

Bordeaux, France

Location

6-Institut Bergonié

Bordeaux, France

Location

7-CHU Brest

Brest, France

Location

8-Centre François Baclesse

Caen, France

Location

9-CH Métropole Savoie Chambéry

Chambéry, France

Location

10-CHU Colmar

Colmar, France

Location

11-CHU Dijon

Dijon, France

Location

12-CHU Grenoble

Grenoble, France

Location

36-CH Le Mans

Le Mans, France

Location

16-CHU Lille

Lille, France

Location

17-CHU Limoges

Limoges, France

Location

18a-Hospices Civils Lyon - Lyon Est

Lyon, France

Location

18b-Hospices Civils Lyon - Lyon Sud

Lyon, France

Location

19-AP-HM Hôpital de la Timone

Marseille, France

Location

33-Institut Paoli Calmettes

Marseille, France

Location

20-CHU Montpellier

Montpellier, France

Location

21-CHU Nantes

Nantes, France

Location

22-CHU Nice

Nice, France

Location

32-Centre Antoine Lacassagne

Nice, France

Location

37-CH Niort

Niort, France

Location

23-CHU Nîmes

Nîmes, France

Location

13a-AP-HP Hôpital Avicenne

Paris, France

Location

13b-AP-HP Hôpital Saint-Antoine

Paris, France

Location

13c-APH-HP Hôpital Salpétrière

Paris, France

Location

13d-AP-HP Hôpital Trousseau

Paris, France

Location

13e-AP-HP Hôpital Saint-Louis

Paris, France

Location

13f-AP-HP Hôpital Robert Debré

Paris, France

Location

14-Institut Curie

Paris, France

Location

38-CHU Guadeloupe

Pointe à Pitre, France

Location

24-CHU Poitiers

Poitiers, France

Location

25-Institut du Cancer Courlancy

Reims, France

Location

26-Centre Eugène Marquis

Rennes, France

Location

27-CHU Rennes

Rennes, France

Location

35-CHU Rouen

Rouen, France

Location

28-CHU Saint-Etienne

Saint-Etienne, France

Location

29-Institut Strauss

Strasbourg, France

Location

30-CHU Toulouse

Toulouse, France

Location

31-CHU Tours

Tours, France

Location

40-CHU Troyes

Troyes, France

Location

34-CH Valence

Valence, France

Location

15-Institut Gustave Roussy

Villejuif, France

Location

Study Officials

  • Virginie BUBIEN, Dr

    Institut Bergonié

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 10, 2022

First Posted

November 29, 2022

Study Start

June 12, 2023

Primary Completion (Estimated)

January 1, 2048

Study Completion (Estimated)

January 1, 2048

Last Updated

May 15, 2026

Record last verified: 2026-05

Data Sharing

IPD Sharing
Will not share

Locations