National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis (ALTITUDES) (ALTITUDES)

National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis

The purpose of this study is to constitute the French largest Aggressive fibromatosis cohort.

Study Overview

• Status: Active, not recruiting
• Conditions: Aggressive Fibromatosis
• Intervention / Treatment: Procedure: biopsy; Other: biobank constitution; Procedure: Coloscopy; Procedure: Blood sampling (facultative); Other: Pain evaluation; Procedure: Tumor biobank realization

Detailed Description

Aggressive fibromatosis (AF) is a rare non-metastasizing connective tissue tumor (< 300 cases/year in France), associated with high risk of local relapse, functional impairment and pain. AF can occur at any age, but most commonly between 25 and 40 with a significant female predominance. AF is most frequently (about 85%) sporadic and then associated with a somatic mutation of the CTNNB1 gene. AF is associated with heredity condition, as complication of familial adenomatous polyposis (with germinal mutation of Adenomatous polyposis coli (APC) gene). Most of AF arises on lims or abdominal wall. Nevertheless, some particular locations are life-threatening (mesenteric or cervical locations). The natural course of AF is unpredictable. One third of tumors are spontaneously stable. One third of tumor spontaneously decreases. One third of tumor is progressive, with a non-linear tumor growth dynamic. As the consequence the decision making for starting curative intent treatment is difficult, since some treatment could be mutilating (large en bloc surgery) or associated with late and severe complications (radiotherapy) and since these treatments could fail to control this benign tumor. Therapeutic options are: wait-and-see policy, surgery (sometimes mutilating), radiotherapy or systemic treatment (non-steroidal anti-inflammatory drugs, hormonotherapy, imatinib, chemotherapy). Level of evidence associated these options is very low, based on retrospective studies and rare non-randomized phase II clinical trials.

Regarding these uncertainties, physicians can hardly answer to patient questions.

Prospective data provided by a large multi-center cohort is needed. The objective of the present study is to create a large cohort of incident cases of AF associated with tumor bank and collection of blood samples.

• Study Type: Interventional
• Enrollment (Actual): 628
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Angers, France, 49933
    • CHU Angers
  • Angers, France, 49055
    • Institut de Cancerologie de l'Ouest - Paul Papin
  • Besancon, France, 25030
    • CHU de Besancon
  • Bordeaux, France, 33076
    • Institut Bergonié
  • Bordeaux, France, 33076
    • Hôpital Des Enfants
  • Caen, France, 14076
    • Centre Francois Baclesse
  • Caen, France, 14033
    • CHU de Caen-Côte de Nacre
  • Clermont Ferrand, France, 63011
    • Centre Jean Perrin
  • Dijon, France, 21079
    • Centre Georges Francois Leclerc
  • Grenoble, France, 38043
    • CHU de Grenoble- Hôpital Couple Enfant
  • Lille, France, 59020
    • Centre Oscar Lambret
  • Lyon, France, 69373
    • Centre Leon Berard
  • Marseille, France, 13273
    • Institut Paoli Calmettes
  • Marseille, France, 13005
    • Hôpital la Timone Enfants Service Oncologie Pédiatrique
  • Marseille, France, 13005
    • Hôpital la Timone Service Oncologie Médicale
  • Montpellier, France, 34298
    • ICM Val D'Aurelle
  • Nantes, France, 44093
    • Hôpital Mère Enfant - CHU Nantes
  • Nice, France, 06202
    • Hôpital Archet 2
  • Paris, France, 75010
    • Hopital Saint Louis
  • Paris, France, 75014
    • Hopital Cochin
  • Paris, France
    • Hopital Saint Antoine
  • Paris, France, 75005
    • Institut Curie Département Oncologie Médicale
  • Paris, France, 75005
    • Institut Curie Département Oncologie Pédiatrique
  • Paris, France, 75012
    • Hôpital d'Enfants Armand Trousseau
  • Reims, France, 51100
    • CHU de Reims
  • Rennes, France, 35023
    • CHU de Rennes- Hôpital Sud
  • Rouen, France, 76038
    • Centre Henri Becquerel
  • Saint Cloud, France, 92210
    • Institut Curie-Hôpital René Huguenin
  • Saint Herblain, France, 44805
    • Institut de Cancérologie de l'Ouest - Site René Gauducheau
  • Saint Priest En Jarez, France
    • institut de cancérologie Lucien Neuwirth
  • Saint-Étienne, France, 42055
    • CHU Saint-Etienne - Hopital Nord
  • Strasbourg, France, 67098
    • Hôpitaux Universitaires de Strasbourg
  • Toulouse, France, 31059
    • Institut Claudius Regaud
  • Toulouse, France, 31059
    • CHU Toulouse - Hôpital des Enfants
  • Tours, France, 37044
    • CHU Tours - Clocheville
  • Vandoeuvre Les Nancy, France, 54511
    • Hôpital d'Enfants- CHU Nancy
  • Vandoeuvre Les Nancy, France, 54519
    • Institut de Cancérologie de Lorraine
  • Villejuif, France, 94800
    • Institut Gustave Roussy

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Incident Case of aggressive fibromatosis in France, diagnosed after 01/01/2016
• Confirmed diagnosis by the French anatomopathological diagnosis network (including search for mutation of the β-Catenin Gene, CTNNB1)
• Affiliation to the National Health System
• Informed consent signed (both parents signature for non adult patients)

Exclusion Criteria:

• Administrative or legal measure of liberty privation
• Patient not able to give consent or unwilling to provide consent

Study Plan

How is the study designed?

Design Details

• Primary Purpose: OTHER
• Allocation: NA
• Interventional Model: SINGLE_GROUP
• Masking: NONE

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

OTHER: Study procedure; Tumor biobank realization (biopsy...) and biobank constitution. coloscopy associated with colonic chromoscopy. Blood sampling (facultative). Pain evaluation

Procedure: biopsy; pre-therapeutic or post-therapeutic biopsy or resected tissues; Other: biobank constitution; Constitution of a biobank with pre-therapeutic or post-therapeutic biopsy or resected tissues; Procedure: Coloscopy; For adult patients, a coloscopy with chromoscopy of ascending and sigmoid colon will be performed; Procedure: Blood sampling (facultative); Blood sample can be collected at diagnostic or after medically significant events (progressive disease, local or systemic treatment, pregnancy...); Other: Pain evaluation; Pain evaluation (EVA scale), anxiety (HADS questionnaire), quality of life questionnaire (EORTC-QLQ-C30); Procedure: Tumor biobank realization; Realization of a tumor biobank is part of classical procedure of participating centers

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incident cases of aggressive fibromatosis, diagnosed after 01/01/2016 in France	To constitute, at a national level, the largest cohort of incident cases of desmoid tumours	through study completion, an average of 5 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Aggressive Fibromatosis associated with familial adenomatous polyposis	To describe and analyse the link between Aggressive Fibromatosis and familial adenomatous polyposis	through study completion, an average of 5 years
Percentage of CTNNB1 mutation in non-selected cases of Aggressive Fibromatosis	To describe the proportion of AF cases characterized by CTNNB1 somatic mutation	through study completion, an average of 5 years
Management of AF	Description of the management of AF. Study of prognosis factor for progressive disease and death. Study of tumor response to treatments (Best response and progression-free survival) according to RECIST 1.1.	through study completion, an average of 5 years
Hospital Anxiety and Depression Scale (HADS)	To describe the psychological impact of the disease at diagnosis and a year after diagnosis. And to compare changes between the time of diagnosis and one year after the treatments used.	at baseline, one year
Quality of Life Questionnaire (QLQC30)	To describe the consequences of the disease on the quality of life at diagnosis and a year after diagnosis. And to compare changes between the time of diagnosis and one year after the treatments used.	at baseline, one year
Impact of pregnancy and hormonal exposure	To study the impact of pregnancy and hormonal exposure on the evolution of the disease according to recurrence/progression rates	Through study completion, an average of 5 years
Incidence of polyposis and colorectal cancer	Rate of polyposis and colorectal cancer in the AF population	Through study completion, an average of 5 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Mutation rate of APC	To determine the mutation rate of APC at constitutional and somatic levels	through study completion, an average of 5 years
Mutation rate of CTNNB1	To determine the mutation rate of CTNNB1 at constitutional and somatic levels	through study completion, an average of 5 years
Correlation between APC and CTNNB1 mutations rates	To demonstrate that APC and CTNNB1 mutations are two mutually exclusive molecular alterations	through study completion, an average of 5 years
APC mutation rate	To correlate mutational somatic and constitutional rate of APC gene	through study completion, an average of 5 years
Occurrence of other mutations	To search other molecular anomalies for patients without APC or CTNNB1 mutations (10 % of cases)	through study completion, an average of 5 years
Cell free (circulating) nucleic acid extraction technics	To determine sensibility and specificity of cell free (circulating) nucleic acid extraction techniques	through study completion, an average of 5 years
AF outcome	To describe patient outcomes and identify prognostic factors	through study completion, an average of 5 years
Treatment response	To search for factors involved in response treatment prediction	through study completion, an average of 5 years

Collaborators and Investigators

• Sponsor: Centre Oscar Lambret
• Collaborators: Institut Curie; Ligue contre le cancer, France; Hôpital de la Timone

Publications and helpful links

General Publications

• Penel N, Bonvalot S, Bimbai AM, Meurgey A, Le Loarer F, Salas S, Piperno-Neumann S, Chevreau C, Boudou-Rouquette P, Dubray-Longeras P, Kurtz JE, Guillemet C, Bompas E, Italiano A, Le Cesne A, Orbach D, Thery J, Le Deley MC, Blay JY, Mir O. Lack of Prognostic Value of CTNNB1 Mutation Profile in Desmoid-Type Fibromatosis. Clin Cancer Res. 2022 Sep 15;28(18):4105-4111. doi: 10.1158/1078-0432.CCR-21-4235.

Study record dates

Study Major Dates

• Study Start (ACTUAL): March 22, 2016
• Primary Completion (ANTICIPATED): March 1, 2025
• Study Completion (ANTICIPATED): March 1, 2026

Study Registration Dates

• First Submitted: July 15, 2016
• First Submitted That Met QC Criteria: August 10, 2016
• First Posted (ESTIMATE): August 15, 2016

Study Record Updates

• Last Update Posted (ACTUAL): February 8, 2023
• Last Update Submitted That Met QC Criteria: February 7, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Keywords: desmoid tumour
• Additional Relevant MeSH Terms: Behavioral Symptoms; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Connective Tissue; Neoplasms, Fibrous Tissue; Aggression; Fibromatosis, Aggressive; Fibroma
• Other Study ID Numbers: ALTITUDES-1508

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO