Clinical trial NCT02867033: National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis (ALTITUDES)
Official title: National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: NA
Conditions: Aggressive Fibromatosis
Keywords: desmoid tumour
Lead sponsor: Centre Oscar Lambret
Sponsor class: OTHER
Collaborators: name: Ligue contre le cancer, France
name: Institut Curie
name: Hôpital de la Timone
First posted: 2016-08-15
Enrollment: 628
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: OTHER

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

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.

Eligibility criteria: 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

Primary outcomes:
measure: Incident cases of aggressive fibromatosis, diagnosed after 01/01/2016 in France
timeFrame: through study completion, an average of 5 years
Secondary outcomes:
measure: Number of Aggressive Fibromatosis associated with familial adenomatous polyposis
timeFrame: through study completion, an average of 5 years
measure: Percentage of CTNNB1 mutation in non-selected cases of Aggressive Fibromatosis
timeFrame: through study completion, an average of 5 years
measure: Management of AF
timeFrame: through study completion, an average of 5 years
measure: Hospital Anxiety and Depression Scale (HADS)
timeFrame: at baseline, one year
measure: Quality of Life Questionnaire (QLQC30)
timeFrame: at baseline, one year
measure: Impact of pregnancy and hormonal exposure
timeFrame: Through study completion, an average of 5 years
measure: Incidence of polyposis and colorectal cancer
timeFrame: Through study completion, an average of 5 years
Other outcomes:
measure: Mutation rate of APC
timeFrame: through study completion, an average of 5 years
measure: Mutation rate of CTNNB1
timeFrame: through study completion, an average of 5 years
measure: Correlation between APC and CTNNB1 mutations rates
timeFrame: through study completion, an average of 5 years
measure: APC mutation rate
timeFrame: through study completion, an average of 5 years
measure: Occurrence of other mutations
timeFrame: through study completion, an average of 5 years
measure: Cell free (circulating) nucleic acid extraction technics
timeFrame: through study completion, an average of 5 years
measure: AF outcome
timeFrame: through study completion, an average of 5 years
measure: Treatment response
timeFrame: through study completion, an average of 5 years
Locations:
city: Angers
country: France
facility: Institut de Cancérologie de l'Ouest - Paul Papin
city: Angers
country: France
facility: CHU Angers
city: Besancon
country: France
facility: CHU de Besançon
city: Bordeaux
country: France
facility: Hôpital des Enfants
city: Bordeaux
country: France
facility: Institut Bergonié
city: Caen
country: France
facility: CHU de Caen-Côte de Nacre
city: Caen
country: France
facility: Centre François Baclesse
city: Clermont Ferrand
country: France
facility: Centre Jean Perrin
city: Dijon
country: France
facility: Centre Georges François Leclerc
city: Grenoble
country: France
facility: CHU de Grenoble- Hôpital Couple Enfant
city: Lille
country: France
facility: Centre Oscar Lambret
city: Lyon
country: France
facility: Centre Léon Bérard
city: Marseille
country: France
facility: Hôpital la Timone Enfants Service Oncologie Pédiatrique
city: Marseille
country: France
facility: Hôpital la Timone Service Oncologie Médicale
city: Marseille
country: France
facility: Institut Paoli Calmettes
city: Montpellier
country: France
facility: ICM Val d'Aurelle
city: Nantes
country: France
facility: Hôpital Mère Enfant - CHU Nantes
city: Nice
country: France
facility: Hôpital Archet 2
city: Paris
country: France
facility: Institut Curie Département Oncologie Médicale
city: Paris
country: France
facility: Institut Curie Département Oncologie Pédiatrique
city: Paris
country: France
facility: Hôpital Saint Louis
city: Paris
country: France
facility: Hôpîtal d'Enfants Armand Trousseau
city: Paris
country: France
facility: Hôpital Cochin
city: Paris
country: France
facility: Hôpital Saint Antoine
city: Reims
country: France
facility: CHU de Reims
city: Rennes
country: France
facility: CHU de Rennes- Hôpital Sud
city: Rouen
country: France
facility: Centre Henri Becquerel
city: Saint Cloud
country: France
facility: Institut Curie-Hôpital René Huguenin
city: Saint Herblain
country: France
facility: Institut de Cancérologie de l'Ouest - Site René Gauducheau
city: Saint Priest En Jarez
country: France
facility: Institut de Cancérologie Lucien Neuwirth
city: Saint-Étienne
country: France
facility: CHU Saint-Étienne - Hôpital Nord
city: Strasbourg
country: France
facility: Hôpitaux Universitaires de Strasbourg
city: Toulouse
country: France
facility: CHU Toulouse - Hôpital des Enfants
city: Toulouse
country: France
facility: Institut Claudius Régaud
city: Tours
country: France
facility: CHU Tours - Clocheville
city: Vandoeuvre Les Nancy
country: France
facility: Hôpital d'Enfants- CHU Nancy
city: Vandoeuvre Les Nancy
country: France
facility: Institut de Cancérologie de Lorraine
city: Villejuif
country: France
facility: Institut Gustave Roussy
Study officials:
affiliation: Centre Oscar Lambret
name: Nicolas PENEL, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Hopital Timone adultes
name: Sébastien SALAS, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.